"Clinical Genetics, Academic Medical Center"[submitter] AND "WHRN"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194094	NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)	WHRN (R882S +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1328057	NM_015404.4(WHRN):c.2250C>T (p.Leu750=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598318	NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)	WHRN (S617L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 287879	NM_015404.4(WHRN):c.1455G>A (p.Pro485=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45654	NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)	WHRN (P485L +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GConflicting classifications of pathogenicity
Select item 45652	NM_015404.4(WHRN):c.1365T>C (p.Ser455=)	WHRN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GConflicting classifications of pathogenicity
Select item 289015	NM_015404.4(WHRN):c.933A>C (p.Pro311=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45683	NM_015404.4(WHRN):c.764G>A (p.Gly255Asp)	WHRN (G255D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 178844	NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)	WHRN (T110A)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance