123624[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 3033873	NM_001386094.1(AGBL1):c.100G>C (p.Asp34His)	AGBL1 (D34H)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GBenign
Select item 3041776	NM_001386094.1(AGBL1):c.116-10T>C	AGBL1	Single nucleotide variant (intron variant)	AGBL1-related disorder	GLikely benign
Select item 2381865	NM_001386094.1(AGBL1):c.191C>T (p.Ala64Val)	AGBL1 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275553	NM_001386094.1(AGBL1):c.199G>C (p.Ala67Pro)	AGBL1 (A67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338361	NM_001386094.1(AGBL1):c.233T>C (p.Phe78Ser)	AGBL1 (F78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645663	NM_001386094.1(AGBL1):c.235C>T (p.Arg79Trp)	AGBL1 (R79W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3275470	NM_001386094.1(AGBL1):c.275G>A (p.Gly92Glu)	AGBL1 (G92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094690	NM_001386094.1(AGBL1):c.400A>C (p.Met134Leu)	AGBL1 (M134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328405	NM_001386094.1(AGBL1):c.449T>C (p.Val150Ala)	AGBL1 (V150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038387	NM_001386094.1(AGBL1):c.489-10C>T	AGBL1	Single nucleotide variant (intron variant)	AGBL1-related disorder	GBenign
Select item 3094726	NM_001386094.1(AGBL1):c.496A>G (p.Thr166Ala)	AGBL1 (T166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094730	NM_001386094.1(AGBL1):c.534C>G (p.Asn178Lys)	AGBL1 (N178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525207	NM_001386094.1(AGBL1):c.538C>T (p.Arg180Cys)	AGBL1 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210894	NM_001386094.1(AGBL1):c.596A>G (p.His199Arg)	AGBL1 (H199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498623	NM_001386094.1(AGBL1):c.622G>A (p.Val208Met)	AGBL1 (V208M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3094736	NM_001386094.1(AGBL1):c.673C>T (p.Arg225Trp)	AGBL1 (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268670	NM_001386094.1(AGBL1):c.688G>C (p.Ala230Pro)	AGBL1 (A230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645664	NM_001386094.1(AGBL1):c.735+4G>A	AGBL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671673	NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)	AGBL1 (Q262P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 8	GUncertain significance
Select item 3059001	NM_001386094.1(AGBL1):c.806C>T (p.Pro269Leu)	AGBL1 (P269L)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GBenign
Select item 2616338	NM_001386094.1(AGBL1):c.826G>T (p.Val276Phe)	AGBL1 (V276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338240	NM_001386094.1(AGBL1):c.861C>T (p.Pro287=)	AGBL1	Single nucleotide variant (synonymous variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 2394799	NM_001386094.1(AGBL1):c.908T>C (p.Phe303Ser)	AGBL1 (F303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304531	NM_001386094.1(AGBL1):c.932T>G (p.Val311Gly)	AGBL1 (V311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094758	NM_001386094.1(AGBL1):c.934G>T (p.Asp312Tyr)	AGBL1 (D312Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057355	NM_001386094.1(AGBL1):c.968A>G (p.Glu323Gly)	AGBL1 (E323G)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GBenign
Select item 932010	NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)	AGBL1 (T329S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3094767	NM_001386094.1(AGBL1):c.1019T>G (p.Leu340Arg)	AGBL1 (L340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275510	NM_001386094.1(AGBL1):c.1025G>A (p.Arg342Gln)	AGBL1 (R342Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094773	NM_001386094.1(AGBL1):c.1027C>A (p.Pro343Thr)	AGBL1 (P343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094776	NM_001386094.1(AGBL1):c.1054G>T (p.Val352Leu)	AGBL1 (V352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041689	NM_001386094.1(AGBL1):c.1102C>G (p.Leu368Val)	AGBL1 (L368V)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GLikely benign
Select item 3094786	NM_001386094.1(AGBL1):c.1129A>G (p.Thr377Ala)	AGBL1 (T377A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275490	NM_001386094.1(AGBL1):c.1139C>A (p.Ala380Asp)	AGBL1 (A380D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047436	NM_001386094.1(AGBL1):c.1159G>C (p.Ala387Pro)	AGBL1 (A387P)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GUncertain significance
Select item 2371148	NM_001386094.1(AGBL1):c.1169C>A (p.Ser390Tyr)	AGBL1 (S390Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290967	NM_001386094.1(AGBL1):c.1211G>C (p.Gly404Ala)	AGBL1 (G404A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620627	NM_001386094.1(AGBL1):c.1234C>G (p.Gln412Glu)	AGBL1 (Q412E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319890	NM_001386094.1(AGBL1):c.1249T>C (p.Cys417Arg)	AGBL1 (C417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336143	NM_001386094.1(AGBL1):c.1270T>A (p.Ser424Thr)	AGBL1 (S424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334731	NM_001386094.1(AGBL1):c.1298dup (p.Asn433fs)	AGBL1 (N433fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2373850	NM_001386094.1(AGBL1):c.1334A>G (p.Asn445Ser)	AGBL1 (N445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541752	NM_001386094.1(AGBL1):c.1350T>G (p.Asp450Glu)	AGBL1 (D450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559750	NM_001386094.1(AGBL1):c.1357G>A (p.Glu453Lys)	AGBL1 (E453K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094578	NM_001386094.1(AGBL1):c.1376T>A (p.Ile459Asn)	AGBL1 (I459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605641	NM_001386094.1(AGBL1):c.1379A>T (p.Gln460Leu)	AGBL1 (Q460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220669	NM_001386094.1(AGBL1):c.1408G>A (p.Val470Ile)	AGBL1 (V470I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608868	NM_001386094.1(AGBL1):c.1439C>A (p.Ala480Asp)	AGBL1 (A480D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258434	NM_001386094.1(AGBL1):c.1451A>C (p.Asn484Thr)	AGBL1 (N484T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514923	NM_001386094.1(AGBL1):c.1454C>G (p.Ser485Cys)	AGBL1 (S485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327331	NM_001386094.1(AGBL1):c.1498C>A (p.Gln500Lys)	AGBL1 (Q500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094596	NM_001386094.1(AGBL1):c.1529A>G (p.Asp510Gly)	AGBL1 (D510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094599	NM_001386094.1(AGBL1):c.1538T>C (p.Leu513Pro)	AGBL1 (L513P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222289	NM_001386094.1(AGBL1):c.1568C>G (p.Ser523Cys)	AGBL1 (S523C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344551	NM_001386094.1(AGBL1):c.1591G>T (p.Ala531Ser)	AGBL1 (A531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275478	NM_001386094.1(AGBL1):c.1609G>A (p.Gly537Arg)	AGBL1 (G537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645665	NM_001386094.1(AGBL1):c.1620C>G (p.Pro540=)	AGBL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3094604	NM_001386094.1(AGBL1):c.1621C>A (p.Pro541Thr)	AGBL1 (P541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275562	NM_001386094.1(AGBL1):c.1624C>T (p.Pro542Ser)	AGBL1 (P542S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242368	NM_001386094.1(AGBL1):c.1641G>T (p.Met547Ile)	AGBL1 (M547I)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 2461604	NM_001386094.1(AGBL1):c.1654T>C (p.Cys552Arg)	AGBL1 (C552R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037979	NM_001386094.1(AGBL1):c.1686T>C (p.Asp562=)	AGBL1	Single nucleotide variant (synonymous variant)	AGBL1-related disorder	GLikely benign
Select item 2362261	NM_001386094.1(AGBL1):c.1690C>T (p.Arg564Trp)	AGBL1 (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094617	NM_001386094.1(AGBL1):c.1691G>C (p.Arg564Pro)	AGBL1 (R564P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094613	NM_001386094.1(AGBL1):c.1691G>A (p.Arg564Gln)	AGBL1 (R564Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629194	NM_001386094.1(AGBL1):c.1775A>G (p.Asn592Ser)	AGBL1 (N592S)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GUncertain significance
Select item 3094621	NM_001386094.1(AGBL1):c.1777T>A (p.Cys593Ser)	AGBL1 (C593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094625	NM_001386094.1(AGBL1):c.1783C>T (p.Arg595Trp)	AGBL1 (R595W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391854	NM_001386094.1(AGBL1):c.1784G>A (p.Arg595Gln)	AGBL1 (R595Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275417	NM_001386094.1(AGBL1):c.1817G>A (p.Arg606His)	AGBL1 (R606H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285270	NM_001386094.1(AGBL1):c.1831G>C (p.Val611Leu)	AGBL1 (V611L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385073	NM_001386094.1(AGBL1):c.1835G>A (p.Arg612His)	AGBL1 (R612H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546253	NM_001386094.1(AGBL1):c.1843G>A (p.Glu615Lys)	AGBL1 (E615K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275521	NM_001386094.1(AGBL1):c.1847A>G (p.Tyr616Cys)	AGBL1 (Y616C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094636	NM_001386094.1(AGBL1):c.1915G>A (p.Gly639Ser)	AGBL1 (G639S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352694	NM_001386094.1(AGBL1):c.1918A>G (p.Met640Val)	AGBL1 (M640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383665	NM_001386094.1(AGBL1):c.1925C>T (p.Ala642Val)	AGBL1 (A642V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056202	NM_001386094.1(AGBL1):c.1926G>A (p.Ala642=)	AGBL1	Single nucleotide variant (synonymous variant)	AGBL1-related disorder	GLikely benign
Select item 2287313	NM_001386094.1(AGBL1):c.1971C>A (p.Asn657Lys)	AGBL1 (N657K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349247	NM_001386094.1(AGBL1):c.1990A>T (p.Met664Leu)	AGBL1 (M664L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094651	NM_001386094.1(AGBL1):c.2044A>T (p.Ile682Leu)	AGBL1 (I682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275460	NM_001386094.1(AGBL1):c.2066G>A (p.Cys689Tyr)	AGBL1 (C689Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037207	NM_001386094.1(AGBL1):c.2086C>T (p.Arg696Cys)	AGBL1 (R696C)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GLikely benign
Select item 3275501	NM_001386094.1(AGBL1):c.2157C>A (p.Phe719Leu)	AGBL1 (F719L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538653	NM_001386094.1(AGBL1):c.2173G>A (p.Val725Ile)	AGBL1 (V725I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488373	NM_001386094.1(AGBL1):c.2224C>T (p.His742Tyr)	AGBL1 (H742Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553878	NM_001386094.1(AGBL1):c.2252A>G (p.Asn751Ser)	AGBL1 (N751S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401728	NM_001386094.1(AGBL1):c.2332G>T (p.Ala778Ser)	AGBL1 (A778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359831	NM_001386094.1(AGBL1):c.2369A>G (p.Gln790Arg)	AGBL1 (Q790R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094663	NM_001386094.1(AGBL1):c.2422A>G (p.Ser808Gly)	AGBL1 (S808G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338241	NM_001386094.1(AGBL1):c.2423G>C (p.Ser808Thr)	AGBL1 (S808T)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 8	GBenign
Select item 3275442	NM_001386094.1(AGBL1):c.2437G>C (p.Val813Leu)	AGBL1 (V813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042880	NM_001386094.1(AGBL1):c.2457G>T (p.Glu819Asp)	AGBL1 (E819D)	Single nucleotide variant (missense variant)	AGBL1-related disorder	GLikely benign

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