"Ambry Genetics"[submitter] AND "KRTAP10-2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209168	NM_198693.4(KRTAP10-2):c.730T>G (p.Ser244Ala)	TSPEAR, KRTAP10-2 (S244A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332470	NM_198693.4(KRTAP10-2):c.712G>A (p.Val238Met)	TSPEAR, KRTAP10-2 (V238M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204995	NM_198693.4(KRTAP10-2):c.664T>A (p.Ser222Thr)	KRTAP10-2, TSPEAR (S222T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2266521	NM_198693.4(KRTAP10-2):c.640A>G (p.Ser214Gly)	KRTAP10-2, TSPEAR (S214G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591399	NM_198693.4(KRTAP10-2):c.382C>G (p.Pro128Ala)	KRTAP10-2, TSPEAR (P128A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394978	NM_198693.4(KRTAP10-2):c.266G>A (p.Cys89Tyr)	TSPEAR, KRTAP10-2 (C89Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224018	NM_198693.4(KRTAP10-2):c.224G>A (p.Cys75Tyr)	TSPEAR, KRTAP10-2 (C75Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341154	NM_198693.4(KRTAP10-2):c.196G>A (p.Ala66Thr)	KRTAP10-2, TSPEAR (A66T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317675	NM_198693.4(KRTAP10-2):c.179C>A (p.Ala60Glu)	TSPEAR, KRTAP10-2 (A60E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357825	NM_198693.4(KRTAP10-2):c.154T>C (p.Cys52Arg)	TSPEAR, KRTAP10-2 (C52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356581	NM_198693.4(KRTAP10-2):c.35C>T (p.Ala12Val)	KRTAP10-2, TSPEAR (A12V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance