"Ambry Genetics"[submitter] AND "CCNI2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219742	NM_001039780.4(CCNI2):c.92A>G (p.Glu31Gly)	CCNI2 (E31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459837	NM_001039780.4(CCNI2):c.131G>A (p.Gly44Glu)	CCNI2, LOC129994603 (G44E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254057	NM_001039780.4(CCNI2):c.139C>T (p.Pro47Ser)	CCNI2, LOC129994603 (P47S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382830	NM_001039780.4(CCNI2):c.235C>G (p.Arg79Gly)	CCNI2, LOC129994603 (R79G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523314	NM_001039780.4(CCNI2):c.329C>T (p.Pro110Leu)	CCNI2 (P110L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496111	NM_001039780.4(CCNI2):c.353A>T (p.Asp118Val)	CCNI2 (D118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496112	NM_001039780.4(CCNI2):c.354C>A (p.Asp118Glu)	CCNI2 (D118E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484998	NM_001039780.4(CCNI2):c.529A>G (p.Ile177Val)	CCNI2 (I177V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365741	NM_001039780.4(CCNI2):c.668A>G (p.Tyr223Cys)	SEPTIN8, CCNI2 (Y224C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258280	NM_001039780.4(CCNI2):c.705G>A (p.Met235Ile)	SEPTIN8, CCNI2 (M236I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557783	NM_001039780.4(CCNI2):c.740T>C (p.Leu247Pro)	CCNI2, SEPTIN8 (L247P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208664	NM_001039780.4(CCNI2):c.755C>T (p.Pro252Leu)	SEPTIN8, CCNI2 (P253L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621260	NM_001039780.4(CCNI2):c.802C>A (p.Pro268Thr)	SEPTIN8, CCNI2 (P284T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253921	NM_001039780.4(CCNI2):c.909G>C (p.Lys303Asn)	CCNI2, SEPTIN8 (K303N +2 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484732	NM_001039780.4(CCNI2):c.916A>C (p.Thr306Pro)	CCNI2, SEPTIN8 (T322P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606291	NM_001039780.4(CCNI2):c.950A>G (p.Glu317Gly)	CCNI2, SEPTIN8 (E318G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218273	NM_001039780.4(CCNI2):c.1027T>C (p.Cys343Arg)	CCNI2, SEPTIN8 (C344R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484466	NM_001039780.4(CCNI2):c.1091T>C (p.Phe364Ser)	CCNI2, SEPTIN8 (F380S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance