Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001371909.1(C10orf67):c.1570+4090T>C | 256815 | C10orf67 | Pathogenic | -1 | RCV003126284; | N | MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805 | 10 | 23508437 | 23508437 | | | NC_000010.10:g.23508437A>G | - | | |
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) | 256297 | PTF1A | Uncertain significance | 146089816 | RCV001108844|RCV002556127|RCV003227911; | N | MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MedGen:CN517202|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805; MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23481467 | 23481467 | | | 10:g.23481467C>T | - | | |
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) | 256297 | PTF1A | Conflicting interpretations of pathogenicity | 140097468 | RCV000523031|RCV001108845|RCV003335450; | N | MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805; MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23481503 | 23481503 | | | 10:g.23481503C>T | ClinGen:CA5438555 | CN169374 not specified; | |
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) | 256297 | PTF1A | Conflicting interpretations of pathogenicity | 535090775 | RCV000118081|RCV000445414|RCV000764885|RCV001103692|RCV001172452|RCV002467566; | N | MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288; MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:652 | 10 | 23481728 | 23481728 | | | NC_000010.10:g.23481728G>C | ClinGen:CA231426 | C3888631 Monogenic diabetes; | |
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) | 256297 | PTF1A | Uncertain significance | 1443229654 | RCV001103694|RCV002480473; | N | MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805; MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23481821 | 23481821 | | | 10:g.23481821G>A | - | | |
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) | 256297 | PTF1A | Benign/Likely benign | 370163562 | RCV000325730|RCV002059542|RCV002502191; | N | MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288; MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805 | 10 | 23481845 | 23481845 | | | NC_000010.10:g.23481845C>T | ClinGen:CA5438599 | C1833104 606176 Permanent neonatal diabetes mellitus; | |
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) | 256297 | PTF1A | Pathogenic/Likely pathogenic | 1588563037 | RCV000984966|RCV003225135|RCV003227879; | N | MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805|MONDO:MONDO:0014415,MedGen:C1835808,OMIM:615953|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23482030 | 23482030 | | | 10:g.23482030C>A | - | | |
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) | 256297 | PTF1A | Uncertain significance | 886046909 | RCV000382731|RCV002487333; | N | MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805; MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23482076 | 23482076 | | | NC_000010.10:g.23482076G>T | ClinGen:CA10635168 | C1833104 606176 Permanent neonatal diabetes mellitus; | |
NM_178161.3(PTF1A):c.673T>G (p.Leu225Val) | 256297 | PTF1A | Uncertain significance | -1 | RCV003228671; | N | MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288; MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805 | 10 | 23482132 | 23482132 | | | | - | | |
NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del) | 256297 | PTF1A | Uncertain significance | -1 | RCV002591926|RCV003228123; | N | MedGen:CN517202|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805; MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23482157 | 23482174 | | | NC_000010.10:g.23482162_23482179del | - | | |
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) | 256297 | PTF1A | Conflicting interpretations of pathogenicity | 7918487 | RCV000118082|RCV000333285|RCV001093986|RCV001522641|RCV001795174|RCV003226203; | N | MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176, Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MedGen:C3661900|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805|MONDO:MONDO:0010813,MedGen:C183 | 10 | 23482635 | 23482635 | | | 10:g.23482635T>C | ClinGen:CA154815,UniProtKB:Q7RTS3#VAR_049548 | CN169374 not specified; | |
NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp) | 256297 | PTF1A | Uncertain significance | -1 | RCV002468471; | N | MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805; MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288 | 10 | 23482835 | 23482835 | | | NC_000010.10:g.23482835A>G | - | | |
NM_178161.3(PTF1A):c.*15G>A | 256297 | PTF1A | Benign | 10828415 | RCV000293385|RCV001795918|RCV001642924; | N | MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069, Orphanet:65288|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935, Orphanet:2805|MedGen:C3661900 | 10 | 23482850 | 23482850 | | | NC_000010.10:g.23482850G>A | ClinGen:CA5438664 | C1833104 606176 Permanent neonatal diabetes mellitus; | |