"Ambry Genetics"[submitter] AND "LOC126807034"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324570	NM_001396959.1(TBC1D1):c.982C>T (p.His328Tyr)	LOC126807034, TBC1D1 (H328Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174352	NM_001396959.1(TBC1D1):c.1030G>A (p.Gly344Ser)	LOC126807034, TBC1D1 (G344S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance