"Ambry Genetics"[submitter] AND "LOC130057544"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2508347	NM_001130028.1(CLK3):c.59G>C (p.Arg20Pro)	CLK3, LOC130057544 (R20P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458150	NM_001130028.1(CLK3):c.172G>A (p.Ala58Thr)	CLK3, LOC130057544 (A58T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351044	NM_001130028.1(CLK3):c.181G>T (p.Gly61Trp)	CLK3, LOC130057544 (G61W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365283	NM_001130028.1(CLK3):c.188G>T (p.Gly63Val)	CLK3, LOC130057544 (G63V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544690	NM_001130028.1(CLK3):c.196C>T (p.Arg66Cys)	CLK3, LOC130057544 (R66C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286740	NM_001130028.1(CLK3):c.205G>A (p.Gly69Ser)	CLK3, LOC130057544 (G69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304522	NM_001130028.1(CLK3):c.223C>T (p.Leu75Phe)	CLK3, LOC130057544 (L75F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471992	NM_001130028.1(CLK3):c.233G>T (p.Arg78Leu)	CLK3, LOC130057544 (R78L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303776	NM_001130028.1(CLK3):c.266C>G (p.Pro89Arg)	CLK3, LOC130057544 (P89R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618083	NM_001130028.2(CLK3):c.-48G>A	CLK3, LOC130057544	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance