"Ambry Genetics"[submitter] AND "LOC130062996"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529969	NM_031918.4(KLF16):c.422C>T (p.Ser141Phe)	KLF16, LOC130062996 (S141F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115303	NM_031918.4(KLF16):c.416A>G (p.Tyr139Cys)	KLF16, LOC130062996 (Y139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252973	NM_031918.4(KLF16):c.365C>T (p.Ala122Val)	KLF16, LOC130062996 (A122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398339	NM_031918.4(KLF16):c.359C>T (p.Pro120Leu)	KLF16, LOC130062996 (P120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610962	NM_031918.4(KLF16):c.358C>G (p.Pro120Ala)	KLF16, LOC130062996 (P120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526666	NM_031918.4(KLF16):c.340C>A (p.Arg114Ser)	KLF16, LOC130062996 (R114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378515	NM_031918.4(KLF16):c.323C>G (p.Ser108Trp)	KLF16, LOC130062996 (S108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292446	NM_031918.4(KLF16):c.319G>T (p.Ala107Ser)	KLF16, LOC130062996 (A107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115302	NM_031918.4(KLF16):c.310T>C (p.Ser104Pro)	KLF16, LOC130062996 (S104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance