"Ambry Genetics"[submitter] AND "RNASEK"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289015	NM_001004333.4(RNASEK):c.19G>A (p.Gly7Arg)	RNASEK, RNASEK-C17orf49 (G7R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520513	NM_001004333.4(RNASEK):c.53C>T (p.Ser18Phe)	RNASEK, RNASEK-C17orf49 (S18F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520954	NM_001004333.5(RNASEK):c.-41C>G	RNASEK, RNASEK-C17orf49	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411161	NM_001004333.5(RNASEK):c.-38G>T	RNASEK-C17orf49, RNASEK	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267603	NM_001004333.5(RNASEK):c.-17C>T	RNASEK-C17orf49, RNASEK	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259628	NM_001004333.5(RNASEK):c.108T>G (p.His36Gln)	RNASEK, RNASEK-C17orf49 (H36Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530530	NM_001004333.5(RNASEK):c.139A>T (p.Thr47Ser)	RNASEK, RNASEK-C17orf49 (T47S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296097	NM_001004333.5(RNASEK):c.241G>A (p.Gly81Ser)	RNASEK, RNASEK-C17orf49 (G81S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372922	NM_001004333.5(RNASEK):c.269A>G (p.Asn90Ser)	RNASEK-C17orf49, RNASEK (N90S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489020	NM_001004333.5(RNASEK):c.286A>C (p.Met96Leu)	RNASEK, RNASEK-C17orf49 (M96L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251834	NM_001004333.5(RNASEK):c.287T>C (p.Met96Thr)	RNASEK, RNASEK-C17orf49 (M96T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance