"Ambry Genetics"[submitter] AND "SEPTIN8"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3160183	NM_001098811.2(SEPTIN8):c.1285A>T (p.Asn429Tyr)	SEPTIN8 (K427* +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317502	NM_001098811.2(SEPTIN8):c.1250C>T (p.Ser417Leu)	SEPTIN8 (S357L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160182	NM_001098811.2(SEPTIN8):c.1211C>A (p.Ala404Glu)	SEPTIN8 (A402E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529860	NM_001098811.2(SEPTIN8):c.1166G>A (p.Arg389Gln)	SEPTIN8 (R329Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160180	NM_001098811.2(SEPTIN8):c.1117C>G (p.Leu373Val)	SEPTIN8 (L313V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160202	NM_001098811.2(SEPTIN8):c.940G>A (p.Asp314Asn)	SEPTIN8 (D314N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160201	NM_001098811.2(SEPTIN8):c.904C>T (p.Arg302Cys)	SEPTIN8 (R242C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160200	NM_001098811.2(SEPTIN8):c.872A>C (p.Gln291Pro)	SEPTIN8 (Q231P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160199	NM_001098811.2(SEPTIN8):c.865C>T (p.Arg289Cys)	SEPTIN8 (R287C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456245	NM_001098811.2(SEPTIN8):c.820G>A (p.Val274Met)	SEPTIN8 (V214M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317504	NM_001098811.2(SEPTIN8):c.770A>G (p.Gln257Arg)	SEPTIN8 (Q197R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317501	NM_001098811.2(SEPTIN8):c.766C>T (p.Arg256Trp)	SEPTIN8 (R196W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160198	NM_001098811.2(SEPTIN8):c.757G>C (p.Val253Leu)	SEPTIN8 (V193L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160197	NM_001098811.2(SEPTIN8):c.715G>A (p.Val239Met)	SEPTIN8 (V239M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160196	NM_001098811.2(SEPTIN8):c.685G>A (p.Ala229Thr)	SEPTIN8 (A227T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160195	NM_001098811.2(SEPTIN8):c.656C>T (p.Thr219Met)	SEPTIN8 (T217M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160194	NM_001098811.2(SEPTIN8):c.602T>C (p.Ile201Thr)	SEPTIN8 (I201T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589186	NM_001098811.2(SEPTIN8):c.473C>T (p.Thr158Met)	SEPTIN8 (T156M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160192	NM_001098811.2(SEPTIN8):c.467T>G (p.Phe156Cys)	SEPTIN8 (F154C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521151	NM_001098811.2(SEPTIN8):c.422C>T (p.Ser141Leu)	SEPTIN8 (S139L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160191	NM_001098811.2(SEPTIN8):c.313G>A (p.Val105Met)	SEPTIN8 (V45M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160188	NM_001098811.2(SEPTIN8):c.293A>T (p.Lys98Met)	SEPTIN8 (K38M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160187	NM_001098811.2(SEPTIN8):c.253C>T (p.Pro85Ser)	SEPTIN8 (P85S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549018	NM_001098811.2(SEPTIN8):c.250C>T (p.Arg84Trp)	SEPTIN8 (R24W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160186	NM_001098811.2(SEPTIN8):c.241G>A (p.Val81Met)	SEPTIN8 (V21M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317503	NM_001098811.2(SEPTIN8):c.209A>G (p.Glu70Gly)	SEPTIN8 (E70G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160185	NM_001098811.2(SEPTIN8):c.200C>T (p.Thr67Met)	SEPTIN8 (T67M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160184	NM_001098811.2(SEPTIN8):c.148G>A (p.Val50Met)	SEPTIN8 (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160181	NM_001098811.2(SEPTIN8):c.113C>T (p.Ser38Leu)	SEPTIN8 (S38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482221	NM_001098811.2(SEPTIN8):c.84C>G (p.Asp28Glu)	SEPTIN8 (D28E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603431	NM_001098811.2(SEPTIN8):c.50G>A (p.Arg17Gln)	SEPTIN8 (R17Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160193	NM_001098811.2(SEPTIN8):c.46C>A (p.Pro16Thr)	SEPTIN8 (P16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 45