"Ambry Genetics"[submitter] AND "LOC130062297"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2513189	NM_001135993.2(TTC39C):c.11C>T (p.Ser4Leu)	LOC130062297, TTC39C +1 more (S4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540216	NM_001135993.2(TTC39C):c.35G>A (p.Arg12Gln)	LOC130062297, TTC39C +1 more (R12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance