"Ambry Genetics"[submitter] AND "LOC130001871"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219469	NM_001099666.2(PTAR1):c.35T>G (p.Val12Gly)	LOC130001871, PTAR1 (V12G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523875	NM_001099666.2(PTAR1):c.26C>T (p.Ala9Val)	LOC130001871, PTAR1 (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220563	NM_001099666.2(PTAR1):c.11C>T (p.Thr4Ile)	LOC130001871, PTAR1 (T4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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