"Ambry Genetics"[submitter] AND "LOC130002171"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2353674	NM_020893.6(CCDC180):c.3911C>T (p.Pro1304Leu)	CCDC180, LOC130002171 +1 more (P1304L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393916	NM_020893.6(CCDC180):c.3947G>A (p.Arg1316Gln)	CCDC180, LOC130002171 +1 more (R1316Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign