"Ambry Genetics"[submitter] AND "LOC130067629"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2411023	NM_173467.5(MCAT):c.176C>T (p.Pro59Leu)	LOC130067629, MCAT (P59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360270	NM_173467.5(MCAT):c.122A>T (p.Asp41Val)	LOC130067629, MCAT (D41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598133	NM_173467.5(MCAT):c.20G>C (p.Arg7Pro)	LOC130067629, MCAT (R7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610313	NM_173467.5(MCAT):c.7G>A (p.Val3Ile)	LOC130067629, MCAT (V3I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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