"Ambry Genetics"[submitter] AND "LOC130062327"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2488045	NM_001142730.3(KCTD1):c.349C>T (p.Pro117Ser)	KCTD1, LOC130062327 (P117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113591	NM_001142730.3(KCTD1):c.340G>A (p.Glu114Lys)	KCTD1, LOC130062327 (E114K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113590	NM_001142730.3(KCTD1):c.334G>T (p.Gly112Trp)	KCTD1, LOC130062327 (G112W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113589	NM_001142730.3(KCTD1):c.334G>A (p.Gly112Arg)	KCTD1, LOC130062327 (G112R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567998	NM_001142730.3(KCTD1):c.279A>C (p.Glu93Asp)	KCTD1, LOC130062327 (E93D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569363	NM_001142730.3(KCTD1):c.264C>G (p.Asp88Glu)	KCTD1, LOC130062327 (D88E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar