EXO1[gene] and "single gene"[properties] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 767769	NM_130398.4(EXO1):c.99C>T (p.Cys33=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder +1 more	GBenign
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 546633	NM_130398.4(EXO1):c.136del (p.Lys45_Leu46insTer)	EXO1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 756923	NM_130398.4(EXO1):c.161+8T>C	EXO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 767770	NM_130398.4(EXO1):c.162-3T>C	EXO1	Single nucleotide variant (intron variant)	EXO1-related disorder +1 more	GBenign
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 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 1205862	NM_130398.4(EXO1):c.325G>A (p.Glu109Lys)	EXO1 (E109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745638	NM_130398.4(EXO1):c.339G>A (p.Ser113=)	EXO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2369392	NM_130398.4(EXO1):c.413G>A (p.Arg138Gln)	EXO1 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276746	NM_130398.4(EXO1):c.419A>G (p.Gln140Arg)	EXO1 (Q140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2389514	NM_130398.4(EXO1):c.436G>A (p.Val146Met)	EXO1 (V146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2266793	NM_130398.4(EXO1):c.494A>G (p.Gln165Arg)	EXO1 (Q165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2245612	NM_130398.4(EXO1):c.548T>C (p.Ile183Thr)	EXO1 (I183T)	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 3042701	NM_130398.4(EXO1):c.570A>G (p.Gly190=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
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 3091000	NM_130398.4(EXO1):c.647G>A (p.Arg216His)	EXO1 (R216H)	Single nucleotide variant (missense variant)	not specified	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 3091001	NM_130398.4(EXO1):c.721G>C (p.Val241Leu)	EXO1 (V241L)	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 3033692	NM_130398.4(EXO1):c.745G>A (p.Asp249Asn)	EXO1 (D249N)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 981839	NM_130398.4(EXO1):c.820G>A (p.Gly274Arg)	EXO1 (G274R)	Single nucleotide variant (missense variant)	EXO1-related disorder +2 more	GConflicting classifications of pathogenicity
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 3091002	NM_130398.4(EXO1):c.839A>G (p.Asn280Ser)	EXO1 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730662	NM_130398.4(EXO1):c.896A>G (p.Asn299Ser)	EXO1 (N299S)	Single nucleotide variant (missense variant)	not provided +1 more	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 2273318	NM_130398.4(EXO1):c.1001C>G (p.Thr334Ser)	EXO1 (T334S)	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 3060962	NM_130398.4(EXO1):c.1061A>G (p.His354Arg)	EXO1 (H354R)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
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 2326815	NM_130398.4(EXO1):c.1150G>C (p.Val384Leu)	EXO1 (V384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3049367	NM_130398.4(EXO1):c.1692G>A (p.Pro564=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
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 3055741	NM_130398.4(EXO1):c.1776A>G (p.Lys592=)	EXO1	Single nucleotide variant (synonymous variant)	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 2640209	NM_130398.4(EXO1):c.1863G>A (p.Thr621=)	EXO1	Single nucleotide variant (synonymous variant)	not provided	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 3034193	NM_130398.4(EXO1):c.1911C>T (p.Ser637=)	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 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 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 3040568	NM_130398.4(EXO1):c.1983C>T (p.Asp661=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
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 3058223	NM_130398.4(EXO1):c.2109+9A>C	EXO1	Single nucleotide variant (intron variant)	EXO1-related disorder	GLikely benign
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 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 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 708631	NM_130398.4(EXO1):c.2212-1G>C	EXO1	Single nucleotide variant (splice acceptor variant)	EXO1-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 435103	NM_130398.4(EXO1):c.2276G>A (p.Gly759Glu)	EXO1 (G759E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 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

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Items: 76