ClinVar for Gene (Select 9156) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	DESI2, SPMIP3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3091002	NM_130398.4(EXO1):c.839A>G (p.Asn280Ser)	EXO1 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091001	NM_130398.4(EXO1):c.721G>C (p.Val241Leu)	EXO1 (V241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091000	NM_130398.4(EXO1):c.647G>A (p.Arg216His)	EXO1 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090999	NM_130398.4(EXO1):c.377C>T (p.Thr126Ile)	EXO1 (T126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090998	NM_130398.4(EXO1):c.2483A>C (p.Glu828Ala)	EXO1 (E827A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090997	NM_130398.4(EXO1):c.2255C>T (p.Thr752Ile)	EXO1 (T751I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090996	NM_130398.4(EXO1):c.1595A>G (p.Asp532Gly)	EXO1 (D531G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090995	NM_130398.4(EXO1):c.119T>C (p.Ile40Thr)	EXO1 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090994	NM_130398.4(EXO1):c.1033A>G (p.Thr345Ala)	EXO1 (T345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062677	GRCh37/hg19 1q43(chr1:239786185-242208644)x1	CHML, CHRM3 +9 more	Copy number loss	not specified	GPathogenic
Select item 3060962	NM_130398.4(EXO1):c.1061A>G (p.His354Arg)	EXO1 (H354R)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3060942	NM_130398.4(EXO1):c.2270C>T (p.Pro757Leu)	EXO1 (P756L +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3060120	NM_130398.4(EXO1):c.2167C>T (p.Arg723Cys)	EXO1 (R722C +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3059609	NM_130398.4(EXO1):c.1765G>A (p.Glu589Lys)	EXO1 (E588K +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3059408	NM_130398.4(EXO1):c.1316C>T (p.Thr439Met)	EXO1 (T438M +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3059237	NM_130398.4(EXO1):c.2009A>G (p.Glu670Gly)	EXO1 (E669G +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3058501	NM_130398.4(EXO1):c.942G>T (p.Gly314=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3058223	NM_130398.4(EXO1):c.2109+9A>C	EXO1	Single nucleotide variant (intron variant)	EXO1-related disorder	GLikely benign
Select item 3057863	NM_130398.4(EXO1):c.1364T>C (p.Phe455Ser)	EXO1 (F454S +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3057247	NM_130398.4(EXO1):c.1268C>A (p.Ala423Glu)	EXO1 (A423E)	Single nucleotide variant (missense variant +1 more)	EXO1-related disorder	GLikely benign
Select item 3057062	NM_130398.4(EXO1):c.1828A>G (p.Ser610Gly)	EXO1 (S609G +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3056363	NM_130398.4(EXO1):c.1378G>C (p.Val460Leu)	EXO1 (V459L +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3055741	NM_130398.4(EXO1):c.1776A>G (p.Lys592=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3055545	NM_130398.4(EXO1):c.1372G>A (p.Val458Met)	EXO1 (V457M +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3053059	NM_130398.4(EXO1):c.435C>G (p.Leu145=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3050624	NM_130398.4(EXO1):c.546A>G (p.Val182=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3049917	NM_130398.4(EXO1):c.1901G>A (p.Arg634Gln)	EXO1 (R633Q +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3049367	NM_130398.4(EXO1):c.1692G>A (p.Pro564=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3046284	NM_130398.4(EXO1):c.1367C>A (p.Ser456Tyr)	EXO1 (S455Y +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3046024	NM_130398.4(EXO1):c.1670G>A (p.Arg557His)	EXO1 (R556H +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3044574	NM_130398.4(EXO1):c.2405+10C>T	EXO1	Single nucleotide variant (intron variant)	EXO1-related disorder	GLikely benign
Select item 3042701	NM_130398.4(EXO1):c.570A>G (p.Gly190=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3040568	NM_130398.4(EXO1):c.1983C>T (p.Asp661=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3039051	NM_130398.4(EXO1):c.1918C>G (p.Pro640Ala)	EXO1 (P639A +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3038266	NM_130398.4(EXO1):c.836A>G (p.Asn279Ser)	EXO1 (N279S)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3037353	NM_130398.4(EXO1):c.1918C>T (p.Pro640Ser)	EXO1 (P639S +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3034193	NM_130398.4(EXO1):c.1911C>T (p.Ser637=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3033692	NM_130398.4(EXO1):c.745G>A (p.Asp249Asn)	EXO1 (D249N)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 2685932	GRCh37/hg19 1q43(chr1:242000389-242197555)x1	EXO1, MAP1LC3C	Copy number loss	not provided	GUncertain significance
Select item 2685921	GRCh37/hg19 1q43(chr1:241953098-242505759)x1	EXO1, MAP1LC3C +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2672390	NM_130398.4(EXO1):c.458C>T (p.Ala153Val)	EXO1 (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640262	GRCh37/hg19 1q43(chr1:241815787-242287967)x3	MAP1LC3C, PLD5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2640209	NM_130398.4(EXO1):c.1863G>A (p.Thr621=)	EXO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608014	NM_130398.4(EXO1):c.1115A>G (p.His372Arg)	EXO1 (H372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2542854	NM_130398.4(EXO1):c.2155A>G (p.Thr719Ala)	EXO1 (T718A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529086	NM_130398.4(EXO1):c.2188A>G (p.Lys730Glu)	EXO1 (K729E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526857	NM_130398.4(EXO1):c.1583C>G (p.Thr528Ser)	EXO1 (T528S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427727	NC_000001.10:g.(?_241661128)_(244218672_?)del	AKT3, CEP170 +10 more	Deletion	not provided	GUncertain significance
Select item 2407795	NM_130398.4(EXO1):c.701G>T (p.Gly234Val)	EXO1 (G234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400131	NM_130398.4(EXO1):c.1669C>T (p.Arg557Cys)	EXO1 (R557C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394133	NM_130398.4(EXO1):c.217C>T (p.Pro73Ser)	EXO1 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389514	NM_130398.4(EXO1):c.436G>A (p.Val146Met)	EXO1 (V146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383785	NM_130398.4(EXO1):c.1515G>T (p.Arg505Ser)	EXO1 (R505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383418	NM_130398.4(EXO1):c.632C>T (p.Thr211Met)	EXO1 (T211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373703	NM_130398.4(EXO1):c.73C>A (p.Gln25Lys)	EXO1 (Q25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369392	NM_130398.4(EXO1):c.413G>A (p.Arg138Gln)	EXO1 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343660	NM_130398.4(EXO1):c.1508G>C (p.Arg503Thr)	EXO1 (R502T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338973	NM_130398.4(EXO1):c.1361G>A (p.Ser454Asn)	EXO1 (S453N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326815	NM_130398.4(EXO1):c.1150G>C (p.Val384Leu)	EXO1 (V384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281975	NM_130398.4(EXO1):c.1925C>G (p.Ser642Cys)	EXO1 (S641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274439	NM_130398.4(EXO1):c.1660G>T (p.Asp554Tyr)	EXO1 (D553Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273318	NM_130398.4(EXO1):c.1001C>G (p.Thr334Ser)	EXO1 (T334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269601	NM_130398.4(EXO1):c.1597A>G (p.Lys533Glu)	EXO1 (K533E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266793	NM_130398.4(EXO1):c.494A>G (p.Gln165Arg)	EXO1 (Q165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249705	NM_130398.4(EXO1):c.1349A>G (p.Asn450Ser)	EXO1 (N450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245613	NM_130398.4(EXO1):c.555G>T (p.Lys185Asn)	EXO1 (K185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245612	NM_130398.4(EXO1):c.548T>C (p.Ile183Thr)	EXO1 (I183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245266	NM_130398.4(EXO1):c.742C>T (p.Pro248Ser)	EXO1 (P248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809288	GRCh37/hg19 1q43(chr1:241094653-242087176)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1705941	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CHML, WDR64 +8 more	Copy number gain	Autism	GUncertain significance
Select item 1527703	GRCh37/hg19 1q43(chr1:241180373-242090901)	CHML, EXO1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1341309	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	not provided	GUncertain significance
Select item 1340555	GRCh37/hg19 1q43(chr1:241867791-242196967)x3	EXO1, MAP1LC3C +1 more	Copy number gain	not provided	GLikely benign
Select item 1205862	NM_130398.4(EXO1):c.325G>A (p.Glu109Lys)	EXO1 (E109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 981839	NM_130398.4(EXO1):c.820G>A (p.Gly274Arg)	EXO1 (G274R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 832829	NC_000001.10:g.(?_241661128)_(242034263_?)dup	CHML, EXO1 +4 more	Duplication	Fumarase deficiency	GUncertain significance
Select item 831850	NC_000001.10:g.(?_241661128)_(242034263_?)del	CHML, EXO1 +4 more	Deletion	Fumarase deficiency	GPathogenic
Select item 831714	NC_000001.10:g.(?_241661108)_(242431558_?)del	CHML, EXO1 +6 more	Deletion	Fumarase deficiency	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814189	GRCh37/hg19 1q43(chr1:241873443-242196967)x4	EXO1, WDR64 +1 more	Copy number gain	not provided	GUncertain significance
Select item 784980	NM_130398.4(EXO1):c.226G>A (p.Val76Ile)	EXO1 (V76I)	Single nucleotide variant (missense variant)	EXO1-related disorder +1 more	GBenign
Select item 782400	NM_130398.4(EXO1):c.277A>G (p.Arg93Gly)	EXO1 (R93G)	Single nucleotide variant (missense variant)	EXO1-related disorder +1 more	GBenign
Select item 767770	NM_130398.4(EXO1):c.162-3T>C	EXO1	Single nucleotide variant (intron variant)	EXO1-related disorder +1 more	GBenign

<< First< Prev

Page of 2