"Ambry Genetics"[submitter] AND "WIPI1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617959	NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln)	ARSG, PRKAR1A +1 more (R407Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2519721	NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val)	ARSG, PRKAR1A +1 more (A323V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2513367	NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met)	ARSG, PRKAR1A +1 more (T313M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2326954	NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr)	ARSG, PRKAR1A +1 more (H275Y +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2299575	NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu)	ARSG, PRKAR1A +1 more (G267E +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2544480	NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn)	ARSG, PRKAR1A +1 more (I317N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2225566	NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys)	WIPI1, ARSG +1 more (R226C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255928	NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile)	ARSG, PRKAR1A +1 more (T224I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588786	NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu)	ARSG, PRKAR1A +1 more (F201L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325263	NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn)	ARSG, PRKAR1A +1 more (Y278N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2300421	NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala)	ARSG, PRKAR1A +1 more (T183A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2393222	NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys)	ARSG, PRKAR1A +1 more (E254K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2249374	NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala)	WIPI1, ARSG +1 more (P217A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280776	NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys)	ARSG, PRKAR1A +1 more (E206K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515115	NM_017983.7(WIPI1):c.473C>T (p.Ala158Val)	ARSG, PRKAR1A +1 more (A76V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance