Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs) | 5396 | PRRX1 | Pathogenic | 398122375 | RCV000043530; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170688887 | 170688888 | | | NC_000001.10:g.170688891_170688894dupAAAA | ClinGen:CA263215,OMIM:167420.0004 | C1876185 202650 Dysgnathia complex; | |
NM_022716.4(PRRX1):c.269del (p.Lys90fs) | 5396 | PRRX1 | Pathogenic | 398122375 | RCV000043529; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170688888 | 170688888 | | | NC_000001.10:g.170688894del | ClinGen:CA263214,OMIM:167420.0003 | | |
NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro) | 5396 | PRRX1 | Likely pathogenic | 1655023196 | RCV001261984; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170688942 | 170688942 | | | 1:g.170688942T>C | - | | |
NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser) | 5396 | PRRX1 | Pathogenic | 387906667 | RCV000022701; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170688963 | 170688963 | | | 1:g.170688963T>C | ClinGen:CA259669,UniProtKB:P54821#VAR_066414,OMIM:167420.0001 | C1876185 202650 Dysgnathia complex; | |
NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp) | 5396 | PRRX1 | Uncertain significance | 756620309 | RCV000714679; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170688968 | 170688968 | | | NC_000001.10:g.170688968C>T | - | | |
NM_022716.4(PRRX1):c.551C>T (p.Ala184Val) | 5396 | PRRX1 | Uncertain significance | -1 | RCV003130344; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170695494 | 170695494 | | | NC_000001.10:g.170695494C>T | - | | |
NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro) | 5396 | PRRX1 | Pathogenic | 1571354325 | RCV000022702; | N | MONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:990 | 1 | 170705280 | 170705280 | | | 1:g.170705280G>C | OMIM:167420.0002 | C1876185 202650 Dysgnathia complex; | |