"Ambry Genetics"[submitter] AND "CRYGC"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2317039	NM_020989.4(CRYGC):c.491C>T (p.Ala164Val)	CRYGC, LOC100507443 (A164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077906	NM_020989.4(CRYGC):c.479T>C (p.Met160Thr)	CRYGC, LOC100507443 (M160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341421	NM_020989.4(CRYGC):c.458G>A (p.Arg153Gln)	CRYGC, LOC100507443 (R153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1937357	NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp)	CRYGC, LOC100507443 (E150D)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 2345146	NM_020989.4(CRYGC):c.344G>A (p.Arg115His)	CRYGC, LOC100507443 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077904	NM_020989.4(CRYGC):c.299G>T (p.Gly100Val)	CRYGC, LOC100507443 (G100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353348	NM_020989.4(CRYGC):c.272G>A (p.Arg91Gln)	CRYGC, LOC100507443 (R91Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077903	NM_020989.4(CRYGC):c.248C>T (p.Pro83Leu)	CRYGC, LOC100507443 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359889	NM_020989.4(CRYGC):c.230G>A (p.Arg77His)	CRYGC, LOC100507443 (R77H)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 2041172	NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys)	CRYGC, LOC100507443 (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2329584	NM_020989.4(CRYGC):c.220G>A (p.Asp74Asn)	CRYGC, LOC100507443 (D74N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077902	NM_020989.4(CRYGC):c.176G>A (p.Arg59Gln)	CRYGC, LOC100507443 (R59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077901	NM_020989.4(CRYGC):c.169T>G (p.Leu57Val)	CRYGC, LOC100507443 (L57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346842	NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg)	CRYGC, LOC100507443 (Q55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3077900	NM_020989.4(CRYGC):c.152A>G (p.Tyr51Cys)	CRYGC, LOC100507443 (Y51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366545	NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr)	CRYGC, LOC100507443 (P49T)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 2213824	NM_020989.4(CRYGC):c.137A>G (p.Tyr46Cys)	CRYGC, LOC100507443 (Y46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278553	NM_020989.4(CRYGC):c.125G>A (p.Cys42Tyr)	CRYGC, LOC100507443 (C42Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077899	NM_020989.4(CRYGC):c.124T>C (p.Cys42Arg)	CRYGC, LOC100507443 (C42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373950	NM_020989.4(CRYGC):c.97T>C (p.Cys33Arg)	CRYGC, LOC100507443 (C33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540719	NM_020989.4(CRYGC):c.44G>A (p.Arg15His)	CRYGC, LOC100507443 (R15H)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance

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Items: 21