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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2512001	NM_004293.5(GDA):c.185C>T (p.Pro62Leu)	GDA (P20L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281091	NM_004293.5(GDA):c.281G>A (p.Ser94Asn)	GDA (S94N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543402	NM_004293.5(GDA):c.424T>G (p.Phe142Val)	GDA (F142V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099184	NM_004293.5(GDA):c.457C>T (p.Leu153Phe)	GDA (L111F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370203	NM_004293.5(GDA):c.505G>C (p.Val169Leu)	GDA (V127L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409307	NM_004293.5(GDA):c.527C>T (p.Thr176Ile)	GDA (T102I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559436	NM_004293.5(GDA):c.683A>G (p.Asn228Ser)	GDA (N186S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3281090	NM_004293.5(GDA):c.685A>T (p.Ile229Phe)	GDA (I187F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364613	NM_004293.5(GDA):c.686T>C (p.Ile229Thr)	GDA (I229T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406165	NM_004293.5(GDA):c.697C>T (p.Arg233Cys)	GDA (R159C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099185	NM_004293.5(GDA):c.721A>G (p.Ile241Val)	GDA (I199V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321924	NM_004293.5(GDA):c.782A>G (p.Tyr261Cys)	GDA (Y261C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480528	NM_004293.5(GDA):c.867C>A (p.Asn289Lys)	GDA (N215K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596873	NM_004293.5(GDA):c.908A>G (p.Asn303Ser)	GDA (N229S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099186	NM_004293.5(GDA):c.972G>C (p.Lys324Asn)	GDA (K282N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338646	NM_004293.5(GDA):c.991G>C (p.Val331Leu)	GDA (V257L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544979	NM_004293.5(GDA):c.1003T>C (p.Tyr335His)	GDA (Y261H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394098	NM_004293.5(GDA):c.1004A>G (p.Tyr335Cys)	GDA (Y261C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620924	NM_004293.5(GDA):c.1142G>A (p.Gly381Glu)	GDA (G381E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240929	NM_004293.5(GDA):c.1151G>T (p.Gly384Val)	GDA (G342V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281093	NM_004293.5(GDA):c.1157T>C (p.Ile386Thr)	GDA (I386T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399030	NM_004293.5(GDA):c.1216G>A (p.Asp406Asn)	GDA (D406N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281092	NM_004293.5(GDA):c.1304G>A (p.Arg435Gln)	GDA (R435Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099183	NM_004293.5(GDA):c.1330G>A (p.Gly444Arg)	GDA (G402R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 24