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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077910	NM_144727.3(CRYGN):c.450C>G (p.Asp150Glu)	CRYGN (D150E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2271841	NM_144727.3(CRYGN):c.436T>G (p.Phe146Val)	CRYGN (F146V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2299191	NM_144727.3(CRYGN):c.399G>T (p.Lys133Asn)	CRYGN (K133N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269711	NM_144727.3(CRYGN):c.370T>C (p.Trp124Arg)	CRYGN (W124R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258649	NM_144727.3(CRYGN):c.326G>A (p.Cys109Tyr)	CRYGN (C109Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493356	NM_144727.3(CRYGN):c.324G>C (p.Gln108His)	CRYGN (Q108H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472332	NM_144727.3(CRYGN):c.256C>T (p.Arg86Trp)	CRYGN (R86W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077909	NM_144727.3(CRYGN):c.221G>A (p.Arg74His)	CRYGN (R74H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269544	NM_144727.3(CRYGN):c.172C>T (p.Arg58Trp)	CRYGN (R58W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327011	NM_144727.3(CRYGN):c.166G>A (p.Asp56Asn)	CRYGN (D56N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473393	NM_144727.3(CRYGN):c.32A>G (p.Tyr11Cys)	CRYGN (Y11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264043	NM_144727.3(CRYGN):c.22A>T (p.Ile8Phe)	CRYGN (I8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326812	NM_144727.3(CRYGN):c.5C>T (p.Ala2Val)	CRYGN (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance