"Ambry Genetics"[submitter] AND "LOC129992219"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345510	NM_018986.5(SH3TC1):c.2929G>A (p.Val977Met)	LOC129992219, SH3TC1 (V977M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301776	NM_018986.5(SH3TC1):c.2939G>A (p.Gly980Asp)	LOC129992219, SH3TC1 (G953D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign