"Ambry Genetics"[submitter] AND "GYG1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1632432	NM_004130.4(GYG1):c.46G>A (p.Ala16Thr)	GYG1 (A16T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1471209	NM_004130.4(GYG1):c.55G>T (p.Ala19Ser)	GYG1 (A19S)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 2050904	NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)	GYG1 (A39T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1440739	NM_004130.4(GYG1):c.171A>T (p.Glu57Asp)	GYG1 (E57D)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 1428936	NM_004130.4(GYG1):c.175A>G (p.Ile59Val)	GYG1 (I59V)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 2288735	NM_004130.4(GYG1):c.209C>T (p.Ala70Val)	GYG1 (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2079553	NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)	GYG1 (L84P)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 2225869	NM_004130.4(GYG1):c.256A>G (p.Lys86Glu)	GYG1 (K86E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300257	NM_004130.4(GYG1):c.264C>A (p.His88Gln)	GYG1 (H88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195478	NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)	GYG1 (I111T)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 2295440	NM_004130.4(GYG1):c.437A>G (p.Tyr146Cys)	GYG1 (Y146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 646200	NM_004130.4(GYG1):c.439A>G (p.Asn147Asp)	GYG1 (N147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2491726	NM_004130.4(GYG1):c.539G>C (p.Arg180Thr)	GYG1 (R180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1465648	NM_004130.4(GYG1):c.551C>T (p.Pro184Leu)	GYG1 (P184L)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 1449684	NM_004130.4(GYG1):c.601T>G (p.Phe201Val)	GYG1 (F201V)	Single nucleotide variant (missense variant)	Polyglucosan body myopathy type 2 +2 more	GUncertain significance
Select item 1432737	NM_004130.4(GYG1):c.610T>C (p.Phe204Leu)	GYG1 (F204L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1373985	NM_004130.4(GYG1):c.614G>T (p.Gly205Val)	GYG1 (G205V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1489560	NM_004130.4(GYG1):c.647G>A (p.Arg216Gln)	GYG1 (R216Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2333841	NM_004130.4(GYG1):c.668C>A (p.Thr223Asn)	GYG1 (T223N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3103361	NM_004130.4(GYG1):c.698G>T (p.Ser233Ile)	GYG1 (S233I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1396767	NM_004130.4(GYG1):c.700G>A (p.Glu234Lys)	GYG1 (E234K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2560203	NM_004130.4(GYG1):c.754A>T (p.Ile252Phe)	GYG1 (I252F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623978	NM_004130.4(GYG1):c.756C>G (p.Ile252Met)	GYG1 (I252M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 577858	NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe)	GYG1 (Y273F)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 1039050	NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)	GYG1 (C291F)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +2 more	GUncertain significance
Select item 2183486	NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)	GYG1 (E294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2597936	NM_004130.4(GYG1):c.895G>A (p.Ala299Thr)	GYG1 (A282T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3103362	NM_004130.4(GYG1):c.898A>G (p.Ile300Val)	GYG1 (I283V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2454940	NM_004130.4(GYG1):c.931A>G (p.Met311Val)	GYG1 (M311V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285873	NM_004130.4(GYG1):c.958G>A (p.Glu320Lys)	GYG1 (E303K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1982897	NM_004130.4(GYG1):c.971G>A (p.Arg324Gln)	GYG1 (D234N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2197883	NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)	GYG1 (D346Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 32