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#AlleleID Type Name GeneID GeneSymbol HGNC_ID ClinicalSignificance ClinSigSimple LastEvaluated RS# (dbSNP) nsv/esv (dbVar) RCVaccession PhenotypeIDS PhenotypeList Origin OriginSimple Assembly ChromosomeAccession Chromosome Start Stop ReferenceAllele AlternateAllele Cytogenetic ReviewStatus NumberSubmitters Guidelines T... |
15041 Indel NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) 9907 AP5Z1 HGNC:22197 Pathogenic/Likely pathogenic 1 Dec 17, 2024 397704705 - RCV000000012|RCV005255549|RCV004998069 MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511||MedGen:C3661900 Hereditary spastic parap... |
15041 Indel NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) 9907 AP5Z1 HGNC:22197 Pathogenic/Likely pathogenic 1 Dec 17, 2024 397704705 - RCV000000012|RCV005255549|RCV004998069 MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511||MedGen:C3661900 Hereditary spastic parap... |
15042 Deletion NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) 9907 AP5Z1 HGNC:22197 Pathogenic 1 Jun 29, 2010 397704709 - RCV000000013 MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511 Hereditary spastic paraplegia 48 germline germline GRCh37 NC_000007.13 7 4827361 4827374 na na 7p22.1 no assertion criter... |
15042 Deletion NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) 9907 AP5Z1 HGNC:22197 Pathogenic 1 Jun 29, 2010 397704709 - RCV000000013 MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511 Hereditary spastic paraplegia 48 germline germline GRCh38 NC_000007.14 7 4787730 4787743 na na 7p22.1 no assertion criter... |
15043 single nucleotide variant NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) 9640 ZNF592 HGNC:28986 Uncertain significance 0 Jun 29, 2015 150829393 - RCV000000014 MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472 Galloway-Mowat syndrome 1 germline germline GRCh37 NC_000015.9 15 85342440 85342... |
15043 single nucleotide variant NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) 9640 ZNF592 HGNC:28986 Uncertain significance 0 Jun 29, 2015 150829393 - RCV000000014 MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472 Galloway-Mowat syndrome 1 germline germline GRCh38 NC_000015.10 15 84799209 8479... |
15044 single nucleotide variant NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) 55572 FOXRED1 HGNC:26927 Pathogenic 1 Aug 17, 2025 267606829 - RCV000000015|RCV000578659|RCV001194045|RCV003390625 MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506| Mit... |
15044 single nucleotide variant NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) 55572 FOXRED1 HGNC:26927 Pathogenic 1 Aug 17, 2025 267606829 - RCV000000015|RCV000578659|RCV001194045|RCV003390625 MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506| Mit... |
15045 single nucleotide variant NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) 55572 FOXRED1 HGNC:26927 Likely pathogenic 1 Jun 06, 2024 267606830 - RCV000000016 MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19 germline germline GRCh37 NC_000011.9 11 126147412 126147412 ... |
15045 single nucleotide variant NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) 55572 FOXRED1 HGNC:26927 Likely pathogenic 1 Jun 06, 2024 267606830 - RCV000000016 MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19 germline germline GRCh38 NC_000011.10 11 126277517 126277517... |
15046 single nucleotide variant NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) 80224 NUBPL HGNC:20278 Conflicting classifications of pathogenicity 1 Apr 08, 2025 200401432 - RCV000196589|RCV000622708|RCV001526454|RCV005055710 MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MedGen:... |
15046 single nucleotide variant NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) 80224 NUBPL HGNC:20278 Conflicting classifications of pathogenicity 1 Apr 08, 2025 200401432 - RCV000196589|RCV000622708|RCV001526454|RCV005055710 MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MedGen:... |
15048 single nucleotide variant NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) 3077 HFE HGNC:4886 Pathogenic/Pathogenic, low penetrance; risk factor 1 Feb 13, 2026 1800562 - RCV000000019|RCV000178096|RCV000210820|RCV000308358|RCV000414811|RCV001248830|RCV001270034|RCV001731264|RCV002280089|RCV002512585|RCV003224084|RCV0034934... |
15048 single nucleotide variant NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) 3077 HFE HGNC:4886 Pathogenic/Pathogenic, low penetrance; risk factor 1 Feb 13, 2026 1800562 - RCV000000019|RCV000178096|RCV000210820|RCV000308358|RCV000414811|RCV001248830|RCV001270034|RCV001731264|RCV002280089|RCV002512585|RCV003224084|RCV0034934... |
15049 single nucleotide variant NM_000410.4(HFE):c.187C>G (p.His63Asp) 3077 HFE HGNC:4886 Conflicting classifications of pathogenicity; other 1 Apr 27, 2026 1799945 - RCV000000026|RCV000175607|RCV000394716|RCV000763144|RCV000844708|RCV000991133|RCV001248831|RCV001731265|RCV002272003|RCV004584302|RCV005621843 MONDO:MOND... |
15049 single nucleotide variant NM_000410.4(HFE):c.187C>G (p.His63Asp) 3077 HFE HGNC:4886 Conflicting classifications of pathogenicity; other 1 Apr 27, 2026 1799945 - RCV000000026|RCV000175607|RCV000394716|RCV000763144|RCV000844708|RCV000991133|RCV001248831|RCV001731265|RCV002272003|RCV004584302|RCV005621843 MONDO:MOND... |
15050 single nucleotide variant NM_000410.4(HFE):c.193A>T (p.Ser65Cys) 3077 HFE HGNC:4886 Conflicting classifications of pathogenicity 1 Feb 03, 2026 1800730 - RCV000000028|RCV000290779|RCV000764641|RCV000998547|RCV001328435|RCV003224085|RCV004532264 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO... |
15050 single nucleotide variant NM_000410.4(HFE):c.193A>T (p.Ser65Cys) 3077 HFE HGNC:4886 Conflicting classifications of pathogenicity 1 Feb 03, 2026 1800730 - RCV000000028|RCV000290779|RCV000764641|RCV000998547|RCV001328435|RCV003224085|RCV004532264 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO... |
15051 single nucleotide variant NM_000410.4(HFE):c.314T>C (p.Ile105Thr) 3077 HFE HGNC:4886 Uncertain significance 1 Aug 25, 2021 28934596 - RCV000000029|RCV001322296 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 Hemochromatosis type 1|Hereditary hemoch... |
15051 single nucleotide variant NM_000410.4(HFE):c.314T>C (p.Ile105Thr) 3077 HFE HGNC:4886 Uncertain significance 1 Aug 25, 2021 28934596 - RCV000000029|RCV001322296 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200 Hemochromatosis type 1|Hereditary hemoch... |
15052 single nucleotide variant NM_000410.4(HFE):c.277G>C (p.Gly93Arg) 3077 HFE HGNC:4886 Uncertain significance 1 Jul 24, 2024 28934597 - RCV000000030|RCV004700171 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 Hemochromatosis type 1|not specified germline germline GRCh37 NC_000006.11 ... |
15052 single nucleotide variant NM_000410.4(HFE):c.277G>C (p.Gly93Arg) 3077 HFE HGNC:4886 Uncertain significance 1 Jul 24, 2024 28934597 - RCV000000030|RCV004700171 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 Hemochromatosis type 1|not specified germline germline GRCh38 NC_000006.12 ... |
15053 single nucleotide variant NM_000410.4(HFE):c.892+48G>A 3077 HFE HGNC:4886 Benign 0 Sep 11, 2018 1800758 - RCV000000031|RCV001618204 |MedGen:C3661900 HFE INTRONIC POLYMORPHISM|not provided germline germline GRCh37 NC_000006.11 6 26093236 26093236 na na 6p22.2 criteria provided, single submitter 2 ACMG2021,ACMG2022... |
15053 single nucleotide variant NM_000410.4(HFE):c.892+48G>A 3077 HFE HGNC:4886 Benign 0 Sep 11, 2018 1800758 - RCV000000031|RCV001618204 |MedGen:C3661900 HFE INTRONIC POLYMORPHISM|not provided germline germline GRCh38 NC_000006.12 6 26093008 26093008 na na 6p22.2 criteria provided, single submitter 2 ACMG2021,ACMG2022... |
15054 single nucleotide variant NM_000410.4(HFE):c.157G>A (p.Val53Met) 3077 HFE HGNC:4886 Uncertain significance 0 Oct 08, 2024 28934889 - RCV000000032|RCV001336845|RCV005255550 |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900 HFE POLYMORPHISM|Hemochromatosis type 1|not provided germline... |
15054 single nucleotide variant NM_000410.4(HFE):c.157G>A (p.Val53Met) 3077 HFE HGNC:4886 Uncertain significance 0 Oct 08, 2024 28934889 - RCV000000032|RCV001336845|RCV005255550 |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:C3661900 HFE POLYMORPHISM|Hemochromatosis type 1|not provided germline... |
15055 single nucleotide variant NM_000410.4(HFE):c.175G>A (p.Val59Met) 3077 HFE HGNC:4886 Uncertain significance 0 May 04, 2023 111033557 - RCV000000033|RCV000987659|RCV003234881 |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 HFE POLYMORPHISM|Hemochromatosis type 1|not specified germli... |
15055 single nucleotide variant NM_000410.4(HFE):c.175G>A (p.Val59Met) 3077 HFE HGNC:4886 Uncertain significance 0 May 04, 2023 111033557 - RCV000000033|RCV000987659|RCV003234881 |MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 HFE POLYMORPHISM|Hemochromatosis type 1|not specified germli... |
15056 single nucleotide variant NM_000410.4(HFE):c.381A>C (p.Gln127His) 3077 HFE HGNC:4886 Uncertain significance 1 Aug 08, 2024 28934595 - RCV000000034|RCV004766972 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 Hemochromatosis type 1|not specified germline germline GRCh37 NC_000006.11... |
15056 single nucleotide variant NM_000410.4(HFE):c.381A>C (p.Gln127His) 3077 HFE HGNC:4886 Uncertain significance 1 Aug 08, 2024 28934595 - RCV000000034|RCV004766972 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MedGen:CN169374 Hemochromatosis type 1|not specified germline germline GRCh38 NC_000006.12... |
15057 single nucleotide variant NM_000410.4(HFE):c.989G>T (p.Arg330Met) 3077 HFE HGNC:4886 Pathogenic 1 Aug 01, 1999 111033558 - RCV000000035 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 Hemochromatosis type 1 germline germline GRCh37 NC_000006.11 6 26093443 26093443 na na 6p22.2 no assertion criteri... |
15057 single nucleotide variant NM_000410.4(HFE):c.989G>T (p.Arg330Met) 3077 HFE HGNC:4886 Pathogenic 1 Aug 01, 1999 111033558 - RCV000000035 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508 Hemochromatosis type 1 germline germline GRCh38 NC_000006.12 6 26093215 26093215 na na 6p22.2 no assertion criteri... |
15058 single nucleotide variant NM_000410.4(HFE):c.848A>C (p.Gln283Pro) 3077 HFE HGNC:4886 Pathogenic/Likely pathogenic 1 Jun 11, 2025 111033563 - RCV000000036|RCV001050090|RCV003884332|RCV005229758 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:... |
15058 single nucleotide variant NM_000410.4(HFE):c.848A>C (p.Gln283Pro) 3077 HFE HGNC:4886 Pathogenic/Likely pathogenic 1 Jun 11, 2025 111033563 - RCV000000036|RCV001050090|RCV003884332|RCV005229758 MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:... |
15059 single nucleotide variant NM_020779.4(WDR35):c.25-2A>G 57539 WDR35 HGNC:29250 Pathogenic 1 Sep 10, 2010 397515534 - RCV000000037 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 Cranioectodermal dysplasia 2 germline germline GRCh37 NC_000002.11 2 20189045 20189045 na na 2p24.1 no assertion criteria p... |
15059 single nucleotide variant NM_020779.4(WDR35):c.25-2A>G 57539 WDR35 HGNC:29250 Pathogenic 1 Sep 10, 2010 397515534 - RCV000000037 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 Cranioectodermal dysplasia 2 germline germline GRCh38 NC_000002.12 2 19989284 19989284 na na 2p24.1 no assertion criteria p... |
15060 single nucleotide variant NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) 57539 WDR35 HGNC:29250 Pathogenic 1 Sep 10, 2010 267607174 - RCV000000038 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 Cranioectodermal dysplasia 2 germline;unknown germline GRCh37 NC_000002.11 2 20145548 20145548 na na 2p24.1 n... |
15060 single nucleotide variant NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) 57539 WDR35 HGNC:29250 Pathogenic 1 Sep 10, 2010 267607174 - RCV000000038 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515 Cranioectodermal dysplasia 2 germline;unknown germline GRCh38 NC_000002.12 2 19945787 19945787 na na 2p24.1 n... |
15061 Deletion NM_020779.4(WDR35):c.2858del (p.Pro953fs) 57539 WDR35 HGNC:29250 Pathogenic 1 Jan 06, 2024 397515334 - RCV000000039|RCV005024976 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271;MONDO:MONDO:0013323,MedGen:C3150874... |
15061 Deletion NM_020779.4(WDR35):c.2858del (p.Pro953fs) 57539 WDR35 HGNC:29250 Pathogenic 1 Jan 06, 2024 397515334 - RCV000000039|RCV005024976 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271;MONDO:MONDO:0013323,MedGen:C3150874... |
15062 single nucleotide variant NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) 57539 WDR35 HGNC:29250 Likely pathogenic 1 May 25, 2017 267607175 - RCV000000040|RCV000508347 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MedGen:C3661900 Cranioectodermal dysplasia 2|not provided germline germline GRCh37 NC_000... |
15062 single nucleotide variant NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) 57539 WDR35 HGNC:29250 Likely pathogenic 1 May 25, 2017 267607175 - RCV000000040|RCV000508347 MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MedGen:C3661900 Cranioectodermal dysplasia 2|not provided germline germline GRCh38 NC_000... |
15063 Indel NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) 26090 ABHD12 HGNC:15868 Pathogenic 1 Jun 24, 2025 1555813914 - RCV000000041|RCV000522470 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 PHARC syndrome|not provided germline germline GRCh37 NC_000020.10 20 25304045 253040... |
15063 Indel NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) 26090 ABHD12 HGNC:15868 Pathogenic 1 Jun 24, 2025 1555813914 - RCV000000041|RCV000522470 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 PHARC syndrome|not provided germline germline GRCh38 NC_000020.11 20 25323409 253234... |
15064 Indel NM_015600.4(ABHD12):c.-6898_191+7002delinsCC 26090 ABHD12 HGNC:15868 Pathogenic 1 Sep 10, 2010 -1 nsv1067853 RCV000000042 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 PHARC syndrome germline germline GRCh37 NC_000020.10 20 25364147 25378237 na GG 20p11.21 no assertion criteria provided 1 ... |
15064 Indel NM_015600.4(ABHD12):c.-6898_191+7002delinsCC 26090 ABHD12 HGNC:15868 Pathogenic 1 Sep 10, 2010 -1 nsv1067853 RCV000000042 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 PHARC syndrome germline germline GRCh38 NC_000020.11 20 25383511 25397601 na GG 20p11.21 no assertion criteria provided 1 ... |
15065 Duplication NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) 26090 ABHD12 HGNC:15868 Pathogenic 1 Sep 10, 2010 397704714 - RCV000000043 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 PHARC syndrome germline germline GRCh37 NC_000020.10 20 25288616 25288617 na na 20p11.21 no assertion criteria pr... |
15065 Duplication NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) 26090 ABHD12 HGNC:15868 Pathogenic 1 Sep 10, 2010 397704714 - RCV000000043 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848 PHARC syndrome germline germline GRCh38 NC_000020.11 20 25307980 25307981 na na 20p11.21 no assertion criteria pr... |
15066 single nucleotide variant NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) 26090 ABHD12 HGNC:15868 Pathogenic 1 Sep 10, 2025 267606624 - RCV000000044|RCV001208516 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 PHARC syndrome|not provided germline germline GRCh37 NC_000020.10 20 2528... |
15066 single nucleotide variant NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) 26090 ABHD12 HGNC:15868 Pathogenic 1 Sep 10, 2025 267606624 - RCV000000044|RCV001208516 MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900 PHARC syndrome|not provided germline germline GRCh38 NC_000020.11 20 2530... |
15067 single nucleotide variant NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) 130557 ZNF513 HGNC:26498 Conflicting classifications of pathogenicity 1 Jun 10, 2025 267607182 - RCV000000045|RCV001239265 MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791|MedGen:C3661900 Retinitis pigmentosa 58|not provided germlin... |
15067 single nucleotide variant NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) 130557 ZNF513 HGNC:26498 Conflicting classifications of pathogenicity 1 Jun 10, 2025 267607182 - RCV000000045|RCV001239265 MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791|MedGen:C3661900 Retinitis pigmentosa 58|not provided germlin... |
15068 Microsatellite NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 Jan 20, 2026 397509360 - RCV000000046|RCV000815800|RCV003415590 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| Primary hyperoxaluria type 3|not provided|... |
15068 Microsatellite NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 Jan 20, 2026 397509360 - RCV000000046|RCV000815800|RCV003415590 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| Primary hyperoxaluria type 3|not provided|... |
15069 single nucleotide variant NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) 112817 HOGA1 HGNC:25155 Pathogenic 1 Nov 18, 2025 138207257 - RCV000000047|RCV000798240 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 Primary hyperoxaluria type 3|not provided germline;unknown germlin... |
15069 single nucleotide variant NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) 112817 HOGA1 HGNC:25155 Pathogenic 1 Nov 18, 2025 138207257 - RCV000000047|RCV000798240 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 Primary hyperoxaluria type 3|not provided germline;unknown germlin... |
15070 single nucleotide variant NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 Jun 05, 2025 267606762 - RCV000000048|RCV001059730|RCV003415591 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| Primary hyperoxaluria type 3|not pr... |
15070 single nucleotide variant NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 Jun 05, 2025 267606762 - RCV000000048|RCV001059730|RCV003415591 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900| Primary hyperoxaluria type 3|not pr... |
15071 single nucleotide variant NM_138413.4(HOGA1):c.700+4G>T 112817 HOGA1 HGNC:25155 Pathogenic 1 Sep 10, 2010 2041105506 - RCV000000049 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600 Primary hyperoxaluria type 3 germline germline GRCh37 NC_000010.10 10 99359924 99359924 na na 10q24.2 no a... |
15071 single nucleotide variant NM_138413.4(HOGA1):c.700+4G>T 112817 HOGA1 HGNC:25155 Pathogenic 1 Sep 10, 2010 2041105506 - RCV000000049 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600 Primary hyperoxaluria type 3 germline germline GRCh38 NC_000010.11 10 97600167 97600167 na na 10q24.2 no a... |
15072 single nucleotide variant NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 May 21, 2024 267606763 - RCV000000050|RCV001387338 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 Primary hyperoxaluria type 3|not provided germlin... |
15072 single nucleotide variant NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 May 21, 2024 267606763 - RCV000000050|RCV001387338 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 Primary hyperoxaluria type 3|not provided germlin... |
15073 single nucleotide variant NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 Oct 03, 2025 267606764 - RCV000000051|RCV000994489 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 Primary hyperoxaluria type 3|not provided germli... |
15073 single nucleotide variant NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) 112817 HOGA1 HGNC:25155 Pathogenic/Likely pathogenic 1 Oct 03, 2025 267606764 - RCV000000051|RCV000994489 MONDO:MONDO:0013327,MedGen:C3150878,OMIM:613616,Orphanet:416,Orphanet:93600|MedGen:C3661900 Primary hyperoxaluria type 3|not provided germli... |
15074 single nucleotide variant NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Jan 19, 2026 267606794 - RCV000000052|RCV001074032|RCV001257835|RCV001090971 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0... |
15074 single nucleotide variant NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Jan 19, 2026 267606794 - RCV000000052|RCV001074032|RCV001257835|RCV001090971 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0... |
15075 single nucleotide variant NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Jan 15, 2026 200691042 - RCV000000053|RCV000153226|RCV000678572|RCV000778621|RCV000787604 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|Human Phenotype Ontology:HP:0000548... |
15075 single nucleotide variant NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Jan 15, 2026 200691042 - RCV000000053|RCV000153226|RCV000678572|RCV000778621|RCV000787604 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|Human Phenotype Ontology:HP:0000548... |
15076 Deletion NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) 84140 FAM161A HGNC:25808 Pathogenic 1 Dec 14, 2025 397704718 - RCV000000054|RCV000414251|RCV001003032|RCV001073488 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,... |
15076 Deletion NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) 84140 FAM161A HGNC:25808 Pathogenic 1 Dec 14, 2025 397704718 - RCV000000054|RCV000414251|RCV001003032|RCV001073488 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,... |
15077 single nucleotide variant NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Dec 01, 2025 202193201 - RCV000000055|RCV000787606|RCV000790648|RCV001003031 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:... |
15077 single nucleotide variant NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Dec 01, 2025 202193201 - RCV000000055|RCV000787606|RCV000790648|RCV001003031 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:... |
15078 single nucleotide variant NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Sep 15, 2025 267606793 - RCV000000056|RCV001054497 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900 Retinitis pigmentosa 28|not provided germline germline GRCh37 NC_000002.11... |
15078 single nucleotide variant NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) 84140 FAM161A HGNC:25808 Pathogenic 1 Sep 15, 2025 267606793 - RCV000000056|RCV001054497 MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:C3661900 Retinitis pigmentosa 28|not provided germline germline GRCh38 NC_000002.12... |
15079 Deletion NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 397704721 - RCV000000057 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GRCh37 NC_0000... |
15079 Deletion NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 397704721 - RCV000000057 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GRCh38 NC_0000... |
15080 single nucleotide variant NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) 284403 WDR62 HGNC:24502 Uncertain significance 1 Dec 15, 2025 147875659 - RCV000000058|RCV000489330|RCV001174806|RCV002512586 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512|MedGen:C3661900|MONDO:MONDO:0016660,MedGen:C3711387,OM... |
15080 single nucleotide variant NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) 284403 WDR62 HGNC:24502 Uncertain significance 1 Dec 15, 2025 147875659 - RCV000000058|RCV000489330|RCV001174806|RCV002512586 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512|MedGen:C3661900|MONDO:MONDO:0016660,MedGen:C3711387,OM... |
15081 single nucleotide variant NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 267607176 - RCV000000059 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GRC... |
15081 single nucleotide variant NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 267607176 - RCV000000059 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GRC... |
15082 single nucleotide variant NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 267607177 - RCV000000060 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GR... |
15082 single nucleotide variant NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 267607177 - RCV000000060 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GR... |
15083 Deletion NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 397704725 - RCV000000061 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GRCh37 NC_0000... |
15083 Deletion NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) 284403 WDR62 HGNC:24502 Pathogenic 1 Sep 09, 2010 397704725 - RCV000000061 MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations germline germline GRCh38 NC_0000... |
15084 single nucleotide variant NM_015910.7(WDPCP):c.76-1G>T 51057 WDPCP HGNC:28027 Pathogenic 1 Sep 10, 2010 397704728 - RCV000000062 MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110 Bardet-Biedl syndrome 15 germline germline GRCh37 NC_000002.11 2 63720075 63720075 na na 2p15 no assertion criteria provided... |
15084 single nucleotide variant NM_015910.7(WDPCP):c.76-1G>T 51057 WDPCP HGNC:28027 Pathogenic 1 Sep 10, 2010 397704728 - RCV000000062 MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110 Bardet-Biedl syndrome 15 germline germline GRCh38 NC_000002.12 2 63492941 63492941 na na 2p15 no assertion criteria provided... |
15085 single nucleotide variant NM_015910.7(WDPCP):c.624G>C (p.Leu208Phe) 51057 WDPCP HGNC:28027 risk factor 0 Sep 10, 2010 267606692 - RCV000000063 - Bardet-Biedl syndrome 12, modifier of germline germline GRCh37 NC_000002.11 2 63664564 63664564 na na 2p15 no assertion criteria provided 1 - N ClinGen:CA113819,OMIM:613... |
15085 single nucleotide variant NM_015910.7(WDPCP):c.624G>C (p.Leu208Phe) 51057 WDPCP HGNC:28027 risk factor 0 Sep 10, 2010 267606692 - RCV000000063 - Bardet-Biedl syndrome 12, modifier of germline germline GRCh38 NC_000002.12 2 63437430 63437430 na na 2p15 no assertion criteria provided 1 - N ClinGen:CA113819,OMIM:613... |
15086 single nucleotide variant NM_015910.7(WDPCP):c.164G>A (p.Arg55Lys) 51057 WDPCP HGNC:28027 risk factor 0 Sep 10, 2010 267606693 - RCV000000064 - Meckel syndrome, type 6, modifier of germline germline GRCh37 NC_000002.11 2 63714625 63714625 na na 2p15 no assertion criteria provided 1 - N OMIM:613580.0003,ClinGen:CA... |
15086 single nucleotide variant NM_015910.7(WDPCP):c.164G>A (p.Arg55Lys) 51057 WDPCP HGNC:28027 risk factor 0 Sep 10, 2010 267606693 - RCV000000064 - Meckel syndrome, type 6, modifier of germline germline GRCh38 NC_000002.12 2 63487491 63487491 na na 2p15 no assertion criteria provided 1 - N OMIM:613580.0003,ClinGen:CA... |
15087 single nucleotide variant NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) 57465 TBC1D24 HGNC:29203 Pathogenic 1 Oct 01, 2025 267607103 - RCV000000065|RCV006263608|RCV006610312 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90... |
15087 single nucleotide variant NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) 57465 TBC1D24 HGNC:29203 Pathogenic 1 Oct 01, 2025 267607103 - RCV000000065|RCV006263608|RCV006610312 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90... |
15088 single nucleotide variant NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) 57465 TBC1D24 HGNC:29203 Conflicting classifications of pathogenicity 1 Jul 21, 2025 267607105 - RCV000000066|RCV000730513|RCV002247226|RCV002399304|RCV006606219 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C366190... |
15088 single nucleotide variant NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) 57465 TBC1D24 HGNC:29203 Conflicting classifications of pathogenicity 1 Jul 21, 2025 267607105 - RCV000000066|RCV000730513|RCV002247226|RCV002399304|RCV006606219 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MedGen:C366190... |
15089 single nucleotide variant NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) 57465 TBC1D24 HGNC:29203 Pathogenic 1 Dec 22, 2014 267607104 - RCV000000067 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582 Familial infantile myoclonic epilepsy germline germline GRCh37 NC_000016.9 16 2546900 2546900 na na 1... |
15089 single nucleotide variant NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) 57465 TBC1D24 HGNC:29203 Pathogenic 1 Dec 22, 2014 267607104 - RCV000000067 MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582 Familial infantile myoclonic epilepsy germline germline GRCh38 NC_000016.10 16 2496899 2496899 na na ... |
15090 single nucleotide variant NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) 63929 XPNPEP3 HGNC:28052 Pathogenic 1 May 24, 2024 267607179 - RCV000000068 MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 Nephronophthisis-like nephropathy 1 germline germline GRCh37 NC_000022.10 22 41320486 41320486 na na 22q13... |
15090 single nucleotide variant NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) 63929 XPNPEP3 HGNC:28052 Pathogenic 1 May 24, 2024 267607179 - RCV000000068 MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 Nephronophthisis-like nephropathy 1 germline germline GRCh38 NC_000022.11 22 40924482 40924482 na na 22q13... |
15091 Deletion NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) 63929 XPNPEP3 HGNC:28052 Pathogenic 1 Mar 01, 2010 2146270895 - RCV000000069 MONDO:MONDO:0013163,MedGen:C3150419,OMIM:613159,Orphanet:655 Nephronophthisis-like nephropathy 1 germline germline GRCh37 NC_000022.10 22 41305199 41305202 na na 22q13.2 no assertio... |
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