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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139944	NM_001039780.4(CCNI2):c.30G>C (p.Gln10His)	CCNI2, LOC129994602 (Q10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139947	NM_001039780.4(CCNI2):c.88C>A (p.Leu30Met)	CCNI2 (L30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219742	NM_001039780.4(CCNI2):c.92A>G (p.Glu31Gly)	CCNI2 (E31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459837	NM_001039780.4(CCNI2):c.131G>A (p.Gly44Glu)	CCNI2, LOC129994603 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254057	NM_001039780.4(CCNI2):c.139C>T (p.Pro47Ser)	CCNI2, LOC129994603 (P47S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139940	NM_001039780.4(CCNI2):c.220G>T (p.Val74Phe)	CCNI2, LOC129994603 (V74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382830	NM_001039780.4(CCNI2):c.235C>G (p.Arg79Gly)	CCNI2, LOC129994603 (R79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139941	NM_001039780.4(CCNI2):c.270C>A (p.Asp90Glu)	CCNI2, LOC129994603 (D90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139942	NM_001039780.4(CCNI2):c.307C>T (p.Pro103Ser)	CCNI2 (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139943	NM_001039780.4(CCNI2):c.308C>G (p.Pro103Arg)	CCNI2 (P103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523314	NM_001039780.4(CCNI2):c.329C>T (p.Pro110Leu)	CCNI2 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496111	NM_001039780.4(CCNI2):c.353A>T (p.Asp118Val)	CCNI2 (D118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496112	NM_001039780.4(CCNI2):c.354C>A (p.Asp118Glu)	CCNI2 (D118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139945	NM_001039780.4(CCNI2):c.475C>T (p.Arg159Trp)	CCNI2 (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484998	NM_001039780.4(CCNI2):c.529A>G (p.Ile177Val)	CCNI2 (I177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365741	NM_001039780.4(CCNI2):c.668A>G (p.Tyr223Cys)	CCNI2, SEPTIN8 (Y224C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2258280	NM_001039780.4(CCNI2):c.705G>A (p.Met235Ile)	CCNI2, SEPTIN8 (M236I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3139946	NM_001039780.4(CCNI2):c.752C>T (p.Thr251Met)	CCNI2, SEPTIN8 (T251M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208664	NM_001039780.4(CCNI2):c.755C>T (p.Pro252Leu)	CCNI2, SEPTIN8 (P253L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621260	NM_001039780.4(CCNI2):c.802C>A (p.Pro268Thr)	CCNI2, SEPTIN8 (P284T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2484732	NM_001039780.4(CCNI2):c.916A>C (p.Thr306Pro)	CCNI2, SEPTIN8 (T322P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606291	NM_001039780.4(CCNI2):c.950A>G (p.Glu317Gly)	CCNI2, SEPTIN8 (E318G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139948	NM_001039780.4(CCNI2):c.967T>C (p.Trp323Arg)	CCNI2, SEPTIN8 (W323R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139939	NM_001039780.4(CCNI2):c.1025G>A (p.Ser342Asn)	CCNI2, SEPTIN8 (S358N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance

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Items: 28