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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535065	NM_145012.6(CCNY):c.82C>G (p.Pro28Ala)	CCNY (P28A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328842	NM_145012.6(CCNY):c.105G>C (p.Glu35Asp)	CCNY (E35D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516328	NM_145012.6(CCNY):c.266A>G (p.His89Arg)	CCNY (H89R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556526	NM_145012.6(CCNY):c.290A>G (p.Lys97Arg)	CCNY (K43R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278597	NM_145012.6(CCNY):c.307A>G (p.Thr103Ala)	CCNY (T49A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222501	NM_145012.6(CCNY):c.370G>A (p.Ala124Thr)	CCNY (A124T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140023	NM_145012.6(CCNY):c.422T>C (p.Leu141Pro)	CCNY (L141P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207268	NM_145012.6(CCNY):c.466G>A (p.Glu156Lys)	CCNY (E156K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481687	NM_145012.6(CCNY):c.510G>C (p.Gln170His)	CCNY (Q145H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603049	NM_145012.6(CCNY):c.570C>T (p.Ile190=)	CCNY	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2548092	NM_145012.6(CCNY):c.805A>G (p.Ser269Gly)	CCNY (S215G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245439	NM_145012.6(CCNY):c.836G>A (p.Arg279His)	CCNY (R146H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264617	NM_145012.6(CCNY):c.877C>G (p.Pro293Ala)	CCNY (P293A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance