EXOC3L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 2508880	NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His)	BLOC1S3, EXOC3L2 (Q801H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357848	NM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln)	BLOC1S3, EXOC3L2 (R799Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1503657	NM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln)	BLOC1S3, EXOC3L2 (R797Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712154	NM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 916243	NM_001382422.1(EXOC3L2):c.2379G>A (p.Pro793=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662737	NM_001382422.1(EXOC3L2):c.2372G>A (p.Arg791Gln)	BLOC1S3, EXOC3L2 (R791Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2405044	NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp)	BLOC1S3, EXOC3L2 (R791W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650095	NM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln)	BLOC1S3, EXOC3L2 (R789Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898955	NM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp)	BLOC1S3, EXOC3L2 (R789W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572510	NM_001382422.1(EXOC3L2):c.2347A>G (p.Ser783Gly)	BLOC1S3, EXOC3L2 (S783G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2099016	NM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091083	NM_001382422.1(EXOC3L2):c.2326C>G (p.Leu776Val)	BLOC1S3, EXOC3L2 (L776V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276779	NM_001382422.1(EXOC3L2):c.2276C>T (p.Pro759Leu)	BLOC1S3, EXOC3L2 (P759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1425167	NM_001382422.1(EXOC3L2):c.2269C>G (p.Pro757Ala)	BLOC1S3, EXOC3L2 (P757A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2056575	NM_001382422.1(EXOC3L2):c.2265C>A (p.Asp755Glu)	BLOC1S3, EXOC3L2 (D755E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2406763	NM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val)	BLOC1S3, EXOC3L2 (A754V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072937	NM_001382422.1(EXOC3L2):c.2215T>C (p.Ser739Pro)	BLOC1S3, EXOC3L2 (S739P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3276778	NM_001382422.1(EXOC3L2):c.2198C>T (p.Ala733Val)	BLOC1S3, EXOC3L2 (A733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412207	NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met)	BLOC1S3, EXOC3L2 (V732M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091082	NM_001382422.1(EXOC3L2):c.2188C>G (p.Leu730Val)	BLOC1S3, EXOC3L2 (L730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1405667	NM_001382422.1(EXOC3L2):c.2176C>T (p.Arg726Cys)	BLOC1S3, EXOC3L2 (R726C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3091090	NM_001382422.1(EXOC3L2):c.2162G>A (p.Arg721His)	BLOC1S3, EXOC3L2 (R721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091089	NM_001382422.1(EXOC3L2):c.2146G>A (p.Asp716Asn)	BLOC1S3, EXOC3L2 (D716N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618553	NM_001382422.1(EXOC3L2):c.2131G>A (p.Val711Met)	BLOC1S3, EXOC3L2 (V711M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267176	NM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His)	BLOC1S3, EXOC3L2 (R701H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310476	NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys)	BLOC1S3, EXOC3L2 (R701C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368946	NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala)	BLOC1S3, EXOC3L2 (P690A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600322	NM_001382422.1(EXOC3L2):c.2025C>T (p.Ala675=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3091088	NM_001382422.1(EXOC3L2):c.2005C>G (p.Gln669Glu)	BLOC1S3, EXOC3L2 (Q669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001743	NM_001382422.1(EXOC3L2):c.2001G>C (p.Glu667Asp)	BLOC1S3, EXOC3L2 (E667D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582878	NM_001382422.1(EXOC3L2):c.1999-11C>G	BLOC1S3, EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989766	NM_001382422.1(EXOC3L2):c.1999-20G>A	BLOC1S3, EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870927	NM_001382422.1(EXOC3L2):c.1998+17G>C	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796074	NM_001382422.1(EXOC3L2):c.1998+10G>A	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2527612	NM_001382422.1(EXOC3L2):c.1990C>G (p.Arg664Gly)	EXOC3L2 (R664G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235909	NM_001382422.1(EXOC3L2):c.1972dup (p.Gln658fs)	EXOC3L2 (Q658fs)	Duplication (frameshift variant)	EXOC3L2-related brain malformations and/or renal disease	GLikely pathogenic
Select item 1608804	NM_001382422.1(EXOC3L2):c.1932C>T (p.Thr644=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374305	NM_001382422.1(EXOC3L2):c.1831G>A (p.Glu611Lys)	EXOC3L2 (E611K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176618	NM_001382422.1(EXOC3L2):c.1749G>A (p.Lys583=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595407	NM_001382422.1(EXOC3L2):c.1745G>A (p.Arg582Gln)	EXOC3L2 (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197534	NM_001382422.1(EXOC3L2):c.1744C>T (p.Arg582Trp)	EXOC3L2 (R582W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2509474	NM_001382422.1(EXOC3L2):c.1742G>A (p.Arg581His)	EXOC3L2 (R581H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2056980	NM_001382422.1(EXOC3L2):c.1741C>T (p.Arg581Cys)	EXOC3L2 (R581C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049388	NM_001382422.1(EXOC3L2):c.1720-15C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600368	NM_001382422.1(EXOC3L2):c.1720-19C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2104843	NM_001382422.1(EXOC3L2):c.1704G>C (p.Leu568=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594584	NM_001382422.1(EXOC3L2):c.1696A>G (p.Asn566Asp)	EXOC3L2 (N566D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2143610	NM_001382422.1(EXOC3L2):c.1690G>A (p.Val564Met)	EXOC3L2 (V564M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155845	NM_001382422.1(EXOC3L2):c.1689C>T (p.Val563=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267917	NM_001382422.1(EXOC3L2):c.1688T>C (p.Val563Ala)	EXOC3L2 (V563A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2076808	NM_001382422.1(EXOC3L2):c.1685G>A (p.Arg562His)	EXOC3L2 (R562H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1944440	NM_001382422.1(EXOC3L2):c.1684C>G (p.Arg562Gly)	EXOC3L2 (R562G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048350	NM_001382422.1(EXOC3L2):c.1673G>A (p.Arg558Gln)	EXOC3L2 (R558Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2239521	NM_001382422.1(EXOC3L2):c.1645T>A (p.Ser549Thr)	EXOC3L2 (S549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1655630	NM_001382422.1(EXOC3L2):c.1632G>A (p.Pro544=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3091087	NM_001382422.1(EXOC3L2):c.1627G>A (p.Glu543Lys)	EXOC3L2 (E543K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367280	NM_001382422.1(EXOC3L2):c.1607G>A (p.Arg536Gln)	EXOC3L2 (R536Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276776	NM_001382422.1(EXOC3L2):c.1598G>A (p.Arg533His)	EXOC3L2 (R533H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454390	NM_001382422.1(EXOC3L2):c.1592C>T (p.Ala531Val)	EXOC3L2 (A531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1947760	NM_001382422.1(EXOC3L2):c.1583+18G>A	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 266076	NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs)	EXOC3L2	Duplication	Meckel-Gruber syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3276777	NM_001382422.1(EXOC3L2):c.1576C>T (p.Pro526Ser)	EXOC3L2 (P526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514688	NM_001382422.1(EXOC3L2):c.1538A>G (p.Tyr513Cys)	EXOC3L2 (Y513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276774	NM_001382422.1(EXOC3L2):c.1517G>A (p.Arg506Gln)	EXOC3L2 (R506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356534	NM_001382422.1(EXOC3L2):c.1483C>T (p.Arg495Cys)	EXOC3L2 (R495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1439459	NM_001382422.1(EXOC3L2):c.1449C>T (p.Gly483=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3091086	NM_001382422.1(EXOC3L2):c.1427G>A (p.Arg476Gln)	EXOC3L2 (R476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464157	NM_001382422.1(EXOC3L2):c.1426C>T (p.Arg476Trp)	EXOC3L2 (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191531	NM_001382422.1(EXOC3L2):c.1425G>A (p.Glu475=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898995	NM_001382422.1(EXOC3L2):c.1404C>T (p.Arg468=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091085	NM_001382422.1(EXOC3L2):c.1402C>T (p.Arg468Cys)	EXOC3L2 (R468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2045739	NM_001382422.1(EXOC3L2):c.1399C>T (p.Pro467Ser)	EXOC3L2 (P467S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2379174	NM_001382422.1(EXOC3L2):c.1394G>A (p.Arg465Gln)	EXOC3L2 (R465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081533	NM_001382422.1(EXOC3L2):c.1372-7C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567010	NM_001382422.1(EXOC3L2):c.1372-7C>G	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669637	NM_001382422.1(EXOC3L2):c.1372-16G>A	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2249301	NM_001382422.1(EXOC3L2):c.1367G>T (p.Cys456Phe)	EXOC3L2 (C456F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2903602	NM_001382422.1(EXOC3L2):c.1353G>T (p.Leu451=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919573	NM_001382422.1(EXOC3L2):c.1311C>T (p.Asp437=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3091084	NM_001382422.1(EXOC3L2):c.1305G>T (p.Gln435His)	EXOC3L2 (Q435H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252026	NM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln)	EXOC3L2 (L434Q)	Single nucleotide variant (missense variant)	Meckel-like syndrome	GPathogenic
Select item 2465536	NM_001382422.1(EXOC3L2):c.1291C>G (p.Leu431Val)	EXOC3L2 (L431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535941	NM_001382422.1(EXOC3L2):c.1285G>A (p.Ala429Thr)	EXOC3L2 (A429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601820	NM_001382422.1(EXOC3L2):c.1279C>A (p.Arg427=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491439	NM_001382422.1(EXOC3L2):c.1271C>T (p.Ala424Val)	EXOC3L2 (A424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1655076	NM_001382422.1(EXOC3L2):c.1270-7A>G	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962383	NM_001382422.1(EXOC3L2):c.1270-15C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3276780	NM_001382422.1(EXOC3L2):c.1255G>T (p.Val419Phe)	EXOC3L2 (V419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1528446	NM_001382422.1(EXOC3L2):c.1254C>T (p.Cys418=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982000	NM_001382422.1(EXOC3L2):c.1200G>A (p.Gly400=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650096	NM_001382422.1(EXOC3L2):c.326G>A (p.Arg109Gln)	EXOC3L2 (R109Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 1027393	NC_000019.9:g.(45728172_45730919)_(45731525_45735020)del	EXOC3L2	Deletion	Meckel-Gruber-like syndrome	GPathogenic
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance

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