single nucleotide variant | NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) | ZNF408 | Pathogenic/Likely pathogenic | 11 | 46726871 | 46726871 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA204009,UniProtKB:Q9H9D4#VAR_074615,OMIM:616454.0004 |
single nucleotide variant | NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) | ZNF408 | Likely pathogenic | 11 | 46726613 | 46726613 | C | T | criteria provided, single submitter | OMIM:616454.0001,ClinGen:CA204005,UniProtKB:Q9H9D4#VAR_074613 |
Deletion | NM_206933.4(USH2A):c.486-1_625del | USH2A | Likely pathogenic | 1 | 216591882 | 216592022 | TTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.6325+1G>A | USH2A | Pathogenic | 1 | 216219772 | 216219772 | C | T | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_216292165)_(216327664_?)del | USH2A | Pathogenic | 1 | 216465507 | 216501006 | na | na | criteria provided, single submitter | - |
Duplication | NC_000001.10:g.(?_215914707)_(215933195_?)dup | USH2A | Pathogenic | 1 | 215914707 | 215933195 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_216078079)_(216078372_?)del | USH2A | Pathogenic | 1 | 216251421 | 216251714 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter) | USH2A | Pathogenic | 1 | 216497610 | 216497610 | C | A | criteria provided, single submitter | - |
Deletion | NM_206933.4(USH2A):c.3004del (p.Cys1002fs) | USH2A | Pathogenic | 1 | 216390882 | 216390882 | CA | C | criteria provided, single submitter | - |
Duplication | NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs) | USH2A | Pathogenic | 1 | 216380705 | 216380706 | G | GAC | criteria provided, single submitter | - |