Related gene-specific medical variations for Gene (Select 23176) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2655696	NM_001039780.4(CCNI2):c.753G>A (p.Thr251=)	CCNI2, SEPTIN8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 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
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 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 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 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