149371[geneid] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	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 1257331	NM_175876.5(EXOC8):c.*45del	EXOC8	Deletion (3 prime UTR variant)	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 2299485	NM_175876.5(EXOC8):c.2036C>T (p.Ser679Phe)	EXOC8 (S679F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767762	NM_175876.5(EXOC8):c.2015C>G (p.Ala672Gly)	EXOC8 (A672G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2640077	NM_175876.5(EXOC8):c.1866A>G (p.Lys622=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1361829	NM_175876.5(EXOC8):c.1819G>C (p.Asp607His)	EXOC8 (D607H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983549	NM_175876.5(EXOC8):c.1815_1816del (p.Gly606_Asp607insTer)	EXOC8	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1810031	NM_175876.5(EXOC8):c.1795del (p.Ser599fs)	EXOC8 (S599fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2529597	NM_175876.5(EXOC8):c.1604T>C (p.Ile535Thr)	EXOC8 (I535T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2464778	NM_175876.5(EXOC8):c.1529A>G (p.Asp510Gly)	EXOC8 (D510G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2906059	NM_175876.5(EXOC8):c.1413A>C (p.Ala471=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219010	NM_175876.5(EXOC8):c.1364A>G (p.Tyr455Cys)	EXOC8 (Y455C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351914	NM_175876.5(EXOC8):c.1352C>T (p.Ala451Val)	EXOC8 (A451V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2339808	NM_175876.5(EXOC8):c.1258C>T (p.Arg420Trp)	EXOC8 (R420W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235058	NM_175876.5(EXOC8):c.1199C>T (p.Pro400Leu)	EXOC8 (P400L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401390	NM_175876.5(EXOC8):c.1103A>G (p.Glu368Gly)	EXOC8 (E368G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631663	NM_175876.5(EXOC8):c.1099C>T (p.Leu367=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488510	NM_175876.5(EXOC8):c.1039T>C (p.Cys347Arg)	EXOC8 (C347R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640078	NM_175876.5(EXOC8):c.978G>A (p.Glu326=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780325	NM_175876.5(EXOC8):c.973G>A (p.Val325Ile)	EXOC8 (V325I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1416766	NM_175876.5(EXOC8):c.972G>T (p.Glu324Asp)	EXOC8 (E324D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711666	NM_175876.5(EXOC8):c.955G>C (p.Glu319Gln)	EXOC8 (E319Q)	Single nucleotide variant (missense variant)	EXOC8-related condition +2 more	GLikely benign
Select item 2492843	NM_175876.5(EXOC8):c.919A>G (p.Lys307Glu)	EXOC8 (K307E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1426743	NM_175876.5(EXOC8):c.881A>C (p.Glu294Ala)	EXOC8 (E294A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 55863	NM_175876.5(EXOC8):c.794A>G (p.Glu265Gly)	EXOC8 (E265G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 786402	NM_175876.5(EXOC8):c.657T>G (p.Pro219=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1512779	NM_175876.5(EXOC8):c.655C>T (p.Pro219Ser)	EXOC8 (P219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2459025	NM_175876.5(EXOC8):c.627C>G (p.Asn209Lys)	EXOC8 (N209K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 780326	NM_175876.5(EXOC8):c.576C>T (p.Tyr192=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2379636	NM_175876.5(EXOC8):c.510A>T (p.Glu170Asp)	EXOC8 (E170D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297846	NM_175876.5(EXOC8):c.454G>T (p.Gly152Cys)	EXOC8 (G152C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2193970	NM_175876.5(EXOC8):c.443G>A (p.Arg148His)	EXOC8 (R148H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554973	NM_175876.5(EXOC8):c.409G>A (p.Ala137Thr)	EXOC8 (A137T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352512	NM_175876.5(EXOC8):c.386G>C (p.Gly129Ala)	EXOC8 (G129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767763	NM_175876.5(EXOC8):c.381G>C (p.Ala127=)	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 2210438	NM_175876.5(EXOC8):c.320C>T (p.Pro107Leu)	EXOC8 (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640079	NM_175876.5(EXOC8):c.238C>T (p.Leu80=)	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 2168082	NM_175876.5(EXOC8):c.231C>A (p.Ile77=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749749	NM_175876.5(EXOC8):c.175C>T (p.Leu59=)	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)	Inborn genetic diseases	GUncertain significance
Select item 2640080	NM_175876.5(EXOC8):c.141C>T (p.Arg47=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794699	NM_175876.5(EXOC8):c.81C>T (p.Tyr27=)	EXOC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250585	NM_175876.5(EXOC8):c.77T>C (p.Leu26Pro)	EXOC8 (L26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1668379	NM_175876.5(EXOC8):c.4GCGATG[3] (p.2AM[3])	EXOC8	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
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 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +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	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
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 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	ACTN2, ARID4B +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	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 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395463	GRCh37/hg19 1q42.2(chr1:231413309-231487406)x3	EXOC8, GNPAT +1 more	Copy number gain	See cases	GLikely benign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic

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Items: 93