Related gene-specific medical variations for Gene (Select 25861) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361910	NM_015404.4(WHRN):c.385G>A (p.Gly129Ser)	WHRN (G129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361593	NM_015404.4(WHRN):c.971A>T (p.Asp324Val)	WHRN (D324V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3360278	NM_015404.4(WHRN):c.2113_2114delinsTT (p.Pro705Phe)	WHRN (P322F +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3245353	NC_000009.11:g.(?_117166282)_(117171166_?)del	WHRN	Deletion	not provided	GLikely pathogenic
Select item 3061951	NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)	WHRN (Q331* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 2D	GLikely pathogenic
Select item 2503092	NM_015404.4(WHRN):c.1817del (p.Asp606fs)	WHRN (D223fs +2 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 445936	NM_015404.4(WHRN):c.740C>G (p.Pro247Arg)	WHRN (P247R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

ClinVar