"Ambry Genetics"[submitter] AND "LOC129931448"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2350472	NM_001394591.1(C2CD4D):c.314C>T (p.Ser105Phe)	C2CD4D, C2CD4D-AS1 +1 more (S105F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240142	NM_001394591.1(C2CD4D):c.232G>A (p.Ala78Thr)	C2CD4D, C2CD4D-AS1 +1 more (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance