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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320269	NM_001889.4(CRYZ):c.730A>G (p.Ile244Val)	CRYZ (I107V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254815	NM_001889.4(CRYZ):c.689T>G (p.Leu230Arg)	CRYZ (L230R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236705	NM_001889.4(CRYZ):c.659T>C (p.Ile220Thr)	CRYZ (I220T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325628	NM_001889.4(CRYZ):c.617T>C (p.Ile206Thr)	CRYZ (I206T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608007	NM_001889.4(CRYZ):c.353C>G (p.Pro118Arg)	CRYZ (P118R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219784	NM_001889.4(CRYZ):c.284C>G (p.Thr95Ser)	CRYZ (T95S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496442	NM_001889.4(CRYZ):c.215A>T (p.Asp72Val)	CRYZ (D72V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317625	NM_001889.4(CRYZ):c.215A>G (p.Asp72Gly)	CRYZ (D72G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214695	NM_001889.4(CRYZ):c.164G>A (p.Arg55His)	CRYZ (R55H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity