"Ambry Genetics"[submitter] AND "CRYL1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2264417	NM_015974.3(CRYL1):c.946G>C (p.Val316Leu)	CRYL1 (V262L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592581	NM_015974.3(CRYL1):c.791A>G (p.Gln264Arg)	CRYL1 (Q264R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269369	NM_015974.3(CRYL1):c.757G>A (p.Asp253Asn)	CRYL1 (D199N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2614552	NM_015974.3(CRYL1):c.667G>T (p.Val223Phe)	CRYL1 (V223F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234365	NM_015974.3(CRYL1):c.536T>C (p.Ile179Thr)	CRYL1 (I179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593031	NM_015974.3(CRYL1):c.485C>T (p.Pro162Leu)	CRYL1 (P108L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472620	NM_015974.3(CRYL1):c.470A>G (p.Glu157Gly)	CRYL1 (E103G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256957	NM_015974.3(CRYL1):c.436C>T (p.Pro146Ser)	CRYL1 (P146S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600181	NM_015974.3(CRYL1):c.338T>C (p.Ile113Thr)	CRYL1 (I113T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance