ClinVar for Gene (Select 149371) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4682508	GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3	ABCB10, ABL2 +959 more	Copy number gain	not provided	GPathogenic
Select item 4665892	NM_175876.5(EXOC8):c.712G>C (p.Val238Leu)	EXOC8 (V238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665890	NM_175876.5(EXOC8):c.1089G>T (p.Leu363Phe)	EXOC8 (L363F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665889	NM_175876.5(EXOC8):c.1105G>T (p.Asp369Tyr)	EXOC8 (D369Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665888	NM_175876.5(EXOC8):c.754A>G (p.Lys252Glu)	EXOC8 (K252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665887	NM_175876.5(EXOC8):c.202C>T (p.Arg68Trp)	EXOC8 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665886	NM_175876.5(EXOC8):c.1559A>T (p.Glu520Val)	EXOC8 (E520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665885	NM_175876.5(EXOC8):c.2138T>A (p.Leu713His)	EXOC8 (L713H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665884	NM_175876.5(EXOC8):c.147G>C (p.Gln49His)	EXOC8 (Q49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665883	NM_175876.5(EXOC8):c.589A>G (p.Met197Val)	EXOC8 (M197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665882	NM_175876.5(EXOC8):c.1740G>C (p.Leu580Phe)	EXOC8 (L580F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4665881	NM_175876.5(EXOC8):c.1973T>C (p.Val658Ala)	EXOC8 (V658A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4251987	NM_175876.5(EXOC8):c.263G>C (p.Ser88Thr)	EXOC8 (S88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4251986	NM_175876.5(EXOC8):c.479G>T (p.Arg160Leu)	EXOC8 (R160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4251985	NM_175876.5(EXOC8):c.1441A>G (p.Thr481Ala)	EXOC8 (T481A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4251984	NM_175876.5(EXOC8):c.922G>T (p.Ala308Ser)	EXOC8 (A308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4251982	NM_175876.5(EXOC8):c.958C>T (p.Pro320Ser)	EXOC8 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020472	NM_175876.5(EXOC8):c.835G>A (p.Asp279Asn)	EXOC8 (D279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020471	NM_175876.5(EXOC8):c.1283G>C (p.Cys428Ser)	EXOC8 (C428S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020469	NM_175876.5(EXOC8):c.1709A>G (p.Asn570Ser)	EXOC8 (N570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020468	NM_175876.5(EXOC8):c.796A>C (p.Asn266His)	EXOC8 (N266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020467	NM_175876.5(EXOC8):c.1451G>A (p.Gly484Asp)	EXOC8 (G484D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020466	NM_175876.5(EXOC8):c.622A>G (p.Met208Val)	EXOC8 (M208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020465	NM_175876.5(EXOC8):c.1201G>C (p.Asp401His)	EXOC8 (D401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020464	NM_175876.5(EXOC8):c.1060G>A (p.Glu354Lys)	EXOC8 (E354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4020463	NM_175876.5(EXOC8):c.442C>T (p.Arg148Cys)	EXOC8 (R148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3846815	NM_175876.5(EXOC8):c.955G>A (p.Glu319Lys)	EXOC8 (E319K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3846814	NM_175876.5(EXOC8):c.1196C>G (p.Ser399Cys)	EXOC8 (S399C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3846813	NM_175876.5(EXOC8):c.488C>T (p.Thr163Ile)	EXOC8 (T163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3846812	NM_175876.5(EXOC8):c.751T>C (p.Phe251Leu)	EXOC8 (F251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3846811	NM_175876.5(EXOC8):c.341C>T (p.Ala114Val)	EXOC8 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3769535	NM_175876.5(EXOC8):c.473dup (p.Gln159fs)	EXOC8 (Q159fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	GLikely pathogenic
Select item 3510985	NM_175876.5(EXOC8):c.1491G>A (p.Met497Ile)	EXOC8 (M497I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510984	NM_175876.5(EXOC8):c.1153G>A (p.Glu385Lys)	EXOC8 (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510983	NM_175876.5(EXOC8):c.48G>C (p.Gln16His)	EXOC8 (Q16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510982	NM_175876.5(EXOC8):c.1076T>G (p.Leu359Arg)	EXOC8 (L359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3510980	NM_175876.5(EXOC8):c.43C>G (p.Arg15Gly)	EXOC8 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391841	GRCh37/hg19 1q42.13-43(chr1:228803269-243112182)x3	URB2, WDR64 +67 more	Copy number gain	not provided	GPathogenic
Select item 3384452	NM_175876.5(EXOC8):c.1208C>A (p.Ser403Tyr)	EXOC8 (S403Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384451	NM_175876.5(EXOC8):c.1003G>A (p.Glu335Lys)	EXOC8 (E335K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3276821	NM_175876.5(EXOC8):c.340G>A (p.Ala114Thr)	EXOC8 (A114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276820	NM_175876.5(EXOC8):c.173A>G (p.Asn58Ser)	EXOC8 (N58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276819	NM_175876.5(EXOC8):c.155C>A (p.Ala52Glu)	EXOC8 (A52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276818	NM_175876.5(EXOC8):c.154G>C (p.Ala52Pro)	EXOC8 (A52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276817	NM_175876.5(EXOC8):c.1247C>T (p.Ser416Leu)	EXOC8 (S416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091172	NM_175876.5(EXOC8):c.680A>G (p.Tyr227Cys)	EXOC8 (Y227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091171	NM_175876.5(EXOC8):c.641T>G (p.Val214Gly)	EXOC8 (V214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091170	NM_175876.5(EXOC8):c.557A>G (p.Asn186Ser)	EXOC8 (N186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091169	NM_175876.5(EXOC8):c.364G>C (p.Glu122Gln)	EXOC8 (E122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091168	NM_175876.5(EXOC8):c.2086G>A (p.Gly696Ser)	EXOC8 (G696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091167	NM_175876.5(EXOC8):c.1993G>C (p.Glu665Gln)	EXOC8 (E665Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091166	NM_175876.5(EXOC8):c.1532G>A (p.Ser511Asn)	EXOC8 (S511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091165	NM_175876.5(EXOC8):c.1141G>A (p.Ala381Thr)	EXOC8 (A381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2977796	NM_175876.5(EXOC8):c.452C>G (p.Ser151Cys)	EXOC8 (S151C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955212	NM_175876.5(EXOC8):c.1263G>A (p.Leu421=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906059	NM_175876.5(EXOC8):c.1413A>C (p.Ala471=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640080	NM_175876.5(EXOC8):c.141C>T (p.Arg47=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640079	NM_175876.5(EXOC8):c.238C>T (p.Leu80=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640078	NM_175876.5(EXOC8):c.978G>A (p.Glu326=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640077	NM_175876.5(EXOC8):c.1866A>G (p.Lys622=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609489	NM_175876.5(EXOC8):c.159G>T (p.Glu53Asp)	EXOC8 (E53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	LOC126806056, LOC129932828 +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2554973	NM_175876.5(EXOC8):c.409G>A (p.Ala137Thr)	EXOC8 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529597	NM_175876.5(EXOC8):c.1604T>C (p.Ile535Thr)	EXOC8 (I535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492843	NM_175876.5(EXOC8):c.919A>G (p.Lys307Glu)	EXOC8 (K307E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488510	NM_175876.5(EXOC8):c.1039T>C (p.Cys347Arg)	EXOC8 (C347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464778	NM_175876.5(EXOC8):c.1529A>G (p.Asp510Gly)	EXOC8 (D510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459025	NM_175876.5(EXOC8):c.627C>G (p.Asn209Lys)	EXOC8 (N209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441308	NM_175876.5(EXOC8):c.1822G>A (p.Asp608Asn)	EXOC8 (D608N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	GUncertain significance
Select item 2379636	NM_175876.5(EXOC8):c.510A>T (p.Glu170Asp)	EXOC8 (E170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352512	NM_175876.5(EXOC8):c.386G>C (p.Gly129Ala)	EXOC8 (G129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351914	NM_175876.5(EXOC8):c.1352C>T (p.Ala451Val)	EXOC8 (A451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339808	NM_175876.5(EXOC8):c.1258C>T (p.Arg420Trp)	EXOC8 (R420W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299485	NM_175876.5(EXOC8):c.2036C>T (p.Ser679Phe)	EXOC8 (S679F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297846	NM_175876.5(EXOC8):c.454G>T (p.Gly152Cys)	EXOC8 (G152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250585	NM_175876.5(EXOC8):c.77T>C (p.Leu26Pro)	EXOC8 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235058	NM_175876.5(EXOC8):c.1199C>T (p.Pro400Leu)	EXOC8 (P400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219010	NM_175876.5(EXOC8):c.1364A>G (p.Tyr455Cys)	EXOC8 (Y455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210438	NM_175876.5(EXOC8):c.320C>T (p.Pro107Leu)	EXOC8 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193970	NM_175876.5(EXOC8):c.443G>A (p.Arg148His)	EXOC8 (R148H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2168082	NM_175876.5(EXOC8):c.231C>A (p.Ile77=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130336	NM_175876.5(EXOC8):c.238C>G (p.Leu80Val)	EXOC8 (L80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065676	NM_175876.5(EXOC8):c.1584T>C (p.His528=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2029098	NM_175876.5(EXOC8):c.1634C>T (p.Ala545Val)	EXOC8 (A545V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007997	NM_175876.5(EXOC8):c.618T>C (p.Phe206=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899899	NM_175876.5(EXOC8):c.873G>T (p.Glu291Asp)	EXOC8 (E291D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1810031	NM_175876.5(EXOC8):c.1795del (p.Ser599fs)	EXOC8 (S599fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	SPRTN, SRP9 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	PRSS38, ZC3H11A +381 more	Copy number gain	See cases	GPathogenic
Select item 1668379	NM_175876.5(EXOC8):c.4GCGATG[3] (p.2AM[3])	EXOC8	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1654974	NM_175876.5(EXOC8):c.2046T>C (p.Tyr682=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631663	NM_175876.5(EXOC8):c.1099C>T (p.Leu367=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1534294	NM_175876.5(EXOC8):c.321T>A (p.Pro107=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1512779	NM_175876.5(EXOC8):c.655C>T (p.Pro219Ser)	EXOC8 (P219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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