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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2359637	NM_001308173.3(CCNJL):c.1148G>T (p.Gly383Val)	CCNJL (G383V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235489	NM_001308173.3(CCNJL):c.1148G>C (p.Gly383Ala)	CCNJL (G383A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558053	NM_001308173.3(CCNJL):c.1100C>A (p.Thr367Asn)	CCNJL (T367N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256482	NM_001308173.3(CCNJL):c.1051C>T (p.Leu351Phe)	CCNJL (L351F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491914	NM_001308173.3(CCNJL):c.967T>C (p.Ser323Pro)	CCNJL (S371P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400386	NM_001308173.3(CCNJL):c.928C>T (p.Arg310Trp)	CCNJL (R310W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515030	NM_001308173.3(CCNJL):c.890A>G (p.Gln297Arg)	CCNJL (Q297R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323801	NM_001308173.3(CCNJL):c.875C>T (p.Ala292Val)	CCNJL (A292V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266437	NM_001308173.3(CCNJL):c.872C>T (p.Pro291Leu)	CCNJL (P291L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620039	NM_001308173.3(CCNJL):c.857C>A (p.Pro286Gln)	CCNJL (P334Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358900	NM_001308173.3(CCNJL):c.820A>C (p.Thr274Pro)	CCNJL (T274P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339938	NM_001308173.3(CCNJL):c.793T>G (p.Leu265Val)	CCNJL (L313V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400889	NM_001308173.3(CCNJL):c.715C>G (p.Leu239Val)	CCNJL (L239V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386157	NM_001308173.3(CCNJL):c.611C>G (p.Ser204Cys)	CCNJL (S252C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212806	NM_001308173.3(CCNJL):c.523C>T (p.Arg175Cys)	CCNJL (R175C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258605	NM_001308173.3(CCNJL):c.226G>A (p.Val76Ile)	CCNJL (V76I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2391079	NM_001308173.3(CCNJL):c.178C>T (p.Arg60Trp)	CCNJL (R60W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212908	NM_001308173.3(CCNJL):c.133A>T (p.Ile45Phe)	CCNJL (I45F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540643	NM_001308173.3(CCNJL):c.11A>C (p.Glu4Ala)	CCNJL (E4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance