"Ambry Genetics"[submitter] AND "STK16"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2326320	NM_001330213.2(STK16):c.77T>G (p.Leu26Arg)	STK16 (L26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307788	NM_001330213.2(STK16):c.115G>T (p.Gly39Trp)	STK16 (G39W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546134	NM_001330213.2(STK16):c.205C>T (p.His69Tyr)	STK16 (H69Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2563043	NM_001330213.2(STK16):c.235C>T (p.Arg79Cys)	STK16 (R79C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241723	NM_001330213.2(STK16):c.236G>A (p.Arg79His)	STK16 (R79H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509139	NM_001330213.2(STK16):c.266G>T (p.Gly89Val)	STK16 (G89V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354056	NM_001330213.2(STK16):c.338T>A (p.Leu113Gln)	STK16 (L113Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246658	NM_001330213.2(STK16):c.359T>C (p.Leu120Pro)	STK16 (L120P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597471	NM_001330213.2(STK16):c.596G>A (p.Arg199Gln)	STK16 (R81Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205646	NM_001330213.2(STK16):c.709A>G (p.Met237Val)	STK16 (M119V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594355	NM_001330213.2(STK16):c.712G>C (p.Val238Leu)	STK16 (V206L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513617	NM_001330213.2(STK16):c.772A>G (p.Ser258Gly)	STK16 (S258G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619552	NM_001330213.2(STK16):c.788C>T (p.Ser263Leu)	STK16 (S231L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411614	NM_001330213.2(STK16):c.823G>A (p.Val275Met)	STK16 (V243M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance