single nucleotide variant | NM_001038603.3(MARVELD2):c.1183-1G>A | MARVELD2 | Likely pathogenic | 5 | 68728353 | 68728353 | G | A | criteria provided, single submitter | OMIM:610572.0001 |
Deletion | NM_182548.4(LHFPL5):c.649+1del | LHFPL5 | Likely pathogenic | 6 | 35782559 | 35782559 | CG | C | criteria provided, single submitter | OMIM:609427.0003 |
single nucleotide variant | NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) | SLC17A8 | Likely pathogenic | 12 | 100790151 | 100790151 | C | T | criteria provided, single submitter | ClinGen:CA252550,UniProtKB:Q8NDX2#VAR_054130,OMIM:607557.0001 |
single nucleotide variant | NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) | NLRP3 | Likely pathogenic | 1 | 247588631 | 247588631 | A | G | criteria provided, single submitter | ClinGen:CA280966,OMIM:606416.0003 |
Deletion | NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) | WFS1 | Likely pathogenic | 4 | 6302902 | 6302910 | CCACCGAGGT | C | criteria provided, single submitter | OMIM:606201.0008 |
single nucleotide variant | NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) | SLC26A4 | Likely pathogenic | 7 | 107329499 | 107329499 | T | C | reviewed by expert panel | ClinGen:CA253316,UniProtKB:O43511#VAR_021656,OMIM:605646.0031 |
single nucleotide variant | NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) | CDH23 | Likely pathogenic | 10 | 73553289 | 73553289 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA253328,OMIM:605516.0006 |
single nucleotide variant | NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) | TMPRSS3 | Likely pathogenic | 21 | 43795961 | 43795961 | G | A | criteria provided, single submitter | ClinGen:CA253353,UniProtKB:P57727#VAR_011679,OMIM:605511.0004 |
single nucleotide variant | NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) | OTOF | Likely pathogenic | 2 | 26705309 | 26705309 | A | G | criteria provided, single submitter | ClinGen:CA117973,UniProtKB:Q9HC10#VAR_032229,OMIM:603681.0011 |
single nucleotide variant | NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) | MYO15A | Likely pathogenic | 17 | 18049249 | 18049249 | A | T | reviewed by expert panel | ClinGen:CA254013,UniProtKB:Q9UKN7#VAR_010304,OMIM:602666.0001 |