SEPTIN8[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
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 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 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
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 63