Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp) | 3859 | KRT12 | Pathogenic | 58162394 | RCV000008387|RCV000056412; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39019406 | 39019406 | | | 17:g.39019406A>C | ClinGen:CA119161,UniProtKB:Q99456#VAR_008528,OMIM:601687.0005 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro) | 3859 | KRT12 | Likely pathogenic | -1 | RCV003389571; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39019510 | 39019510 | | | | - | | |
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu) | 3859 | KRT12 | Uncertain significance | 2143257204 | RCV001731222; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39019532 | 39019543 | | | 39019531 | - | | |
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro) | 3859 | KRT12 | Uncertain significance | 2143257255 | RCV001731223; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39019540 | 39019540 | | | 39019540 | - | | |
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter) | 3859 | KRT12 | Uncertain significance | -1 | RCV003133959; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39019844 | 39019844 | | | NC_000017.10:g.39019844C>A | - | | |
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn) | 3859 | KRT12 | Benign | -1 | RCV003455898; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39022916 | 39022916 | | | | - | | |
NM_000223.4(KRT12):c.427G>C (p.Val143Leu) | 3859 | KRT12 | Pathogenic | 58343600 | RCV000008384|RCV000056426; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39023012 | 39023012 | | | 17:g.39023012C>G | ClinGen:CA119158,UniProtKB:Q99456#VAR_003835,OMIM:601687.0002 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg) | 3859 | KRT12 | Pathogenic | 58918655 | RCV000008388|RCV000056425; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39023020 | 39023020 | | | 17:g.39023020A>C | ClinGen:CA119162,UniProtKB:Q99456#VAR_008527,OMIM:601687.0006 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr) | 3859 | KRT12 | Pathogenic | 57218384 | RCV000008383|RCV000056421; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39023035 | 39023035 | | | 17:g.39023035C>G | ClinGen:CA119157,UniProtKB:Q99456#VAR_003834,OMIM:601687.0001 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile) | 3859 | KRT12 | Pathogenic | 57218384 | RCV000008386|RCV000056422; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39023035 | 39023035 | | | 17:g.39023035C>A | ClinGen:CA119160,UniProtKB:Q99456#VAR_008525,OMIM:601687.0004 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly) | 3859 | KRT12 | Pathogenic | 58410481 | RCV000008385|RCV000056420; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39023036 | 39023036 | | | 17:g.39023036T>C | ClinGen:CA119159,UniProtKB:Q99456#VAR_008526,OMIM:601687.0003 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro) | 3859 | KRT12 | Pathogenic | 886038212 | RCV000252858; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39023044 | 39023044 | | | 17:g.39023044A>G | ClinGen:CA10586701,UniProtKB:Q99456#VAR_072070,OMIM:601687.0008 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.386T>C (p.Met129Thr) | 3859 | KRT12 | Pathogenic | 28936695 | RCV000008389|RCV000056417; | N | MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954|MedGen:CN517202 | 17 | 39023053 | 39023053 | | | 17:g.39023053A>G | ClinGen:CA119163,UniProtKB:Q99456#VAR_013126,OMIM:601687.0007 | C0339277 122100 Meesman's corneal dystrophy; | |
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser) | 3859 | KRT12 | Benign | 11650915 | RCV000056428|RCV001730494; | N | MedGen:C3661900|MONDO:MONDO:0020791,MedGen:C5231499,OMIM:122100, Orphanet:98954 | 17 | 39023396 | 39023396 | | | 17:g.39023396G>A | ClinGen:CA216518,UniProtKB:Q99456#VAR_049783 | CN517202 not provided; | |