"Ambry Genetics"[submitter] AND "LOC130060224"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2274292	NM_183065.4(TMEM107):c.223G>A (p.Val75Ile)	LOC105371520, LOC130060224 +1 more (V75I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330072	NM_183065.4(TMEM107):c.203T>G (p.Leu68Arg)	LOC105371520, LOC130060224 +1 more (L74R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance