ClinVar for Gene (Select 90332) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340134	EXOC3L2, EX3-5DEL (SCV001519072)	EXOC3L2	Deletion	BRAIN MALFORMATION RENAL SYNDROME	GPathogenic
Select item 3340132	EXOC3L2, ARG72TER	EXOC3L2	Single nucleotide variant	BRAIN MALFORMATION RENAL SYNDROME	GPathogenic
Select item 3340131	EXOC3L2, LEU41GLN	EXOC3L2	Single nucleotide variant	BRAIN MALFORMATION RENAL SYNDROME	GPathogenic
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 3276779	NM_001382422.1(EXOC3L2):c.2276C>T (p.Pro759Leu)	BLOC1S3, EXOC3L2 (P759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3276777	NM_001382422.1(EXOC3L2):c.1576C>T (p.Pro526Ser)	EXOC3L2 (P526S)	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 3276774	NM_001382422.1(EXOC3L2):c.1517G>A (p.Arg506Gln)	EXOC3L2 (R506Q)	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 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 3091088	NM_001382422.1(EXOC3L2):c.2005C>G (p.Gln669Glu)	BLOC1S3, EXOC3L2 (Q669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3091086	NM_001382422.1(EXOC3L2):c.1427G>A (p.Arg476Gln)	EXOC3L2 (R476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3091084	NM_001382422.1(EXOC3L2):c.1305G>T (p.Gln435His)	EXOC3L2 (Q435H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3091082	NM_001382422.1(EXOC3L2):c.2188C>G (p.Leu730Val)	BLOC1S3, EXOC3L2 (L730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2989766	NM_001382422.1(EXOC3L2):c.1999-20G>A	BLOC1S3, EXOC3L2	Single nucleotide variant (intron 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 2903602	NM_001382422.1(EXOC3L2):c.1353G>T (p.Leu451=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2712154	NM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2650095	NM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln)	BLOC1S3, EXOC3L2 (R789Q)	Single nucleotide variant (missense variant)	not provided	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 2595407	NM_001382422.1(EXOC3L2):c.1745G>A (p.Arg582Gln)	EXOC3L2 (R582Q)	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 2527612	NM_001382422.1(EXOC3L2):c.1990C>G (p.Arg664Gly)	EXOC3L2 (R664G)	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 2509474	NM_001382422.1(EXOC3L2):c.1742G>A (p.Arg581His)	EXOC3L2 (R581H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2491439	NM_001382422.1(EXOC3L2):c.1271C>T (p.Ala424Val)	EXOC3L2 (A424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2464157	NM_001382422.1(EXOC3L2):c.1426C>T (p.Arg476Trp)	EXOC3L2 (R476W)	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 2412207	NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met)	BLOC1S3, EXOC3L2 (V732M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2405044	NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp)	BLOC1S3, EXOC3L2 (R791W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2374305	NM_001382422.1(EXOC3L2):c.1831G>A (p.Glu611Lys)	EXOC3L2 (E611K)	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 2367280	NM_001382422.1(EXOC3L2):c.1607G>A (p.Arg536Gln)	EXOC3L2 (R536Q)	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 2356534	NM_001382422.1(EXOC3L2):c.1483C>T (p.Arg495Cys)	EXOC3L2 (R495C)	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 2267917	NM_001382422.1(EXOC3L2):c.1688T>C (p.Val563Ala)	EXOC3L2 (V563A)	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 2249301	NM_001382422.1(EXOC3L2):c.1367G>T (p.Cys456Phe)	EXOC3L2 (C456F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2191531	NM_001382422.1(EXOC3L2):c.1425G>A (p.Glu475=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176618	NM_001382422.1(EXOC3L2):c.1749G>A (p.Lys583=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155845	NM_001382422.1(EXOC3L2):c.1689C>T (p.Val563=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2104843	NM_001382422.1(EXOC3L2):c.1704G>C (p.Leu568=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2081533	NM_001382422.1(EXOC3L2):c.1372-7C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2056980	NM_001382422.1(EXOC3L2):c.1741C>T (p.Arg581Cys)	EXOC3L2 (R581C)	Single nucleotide variant (missense variant)	not provided	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 2049388	NM_001382422.1(EXOC3L2):c.1720-15C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2045739	NM_001382422.1(EXOC3L2):c.1399C>T (p.Pro467Ser)	EXOC3L2 (P467S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1982000	NM_001382422.1(EXOC3L2):c.1200G>A (p.Gly400=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962383	NM_001382422.1(EXOC3L2):c.1270-15C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947760	NM_001382422.1(EXOC3L2):c.1583+18G>A	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1898995	NM_001382422.1(EXOC3L2):c.1404C>T (p.Arg468=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669637	NM_001382422.1(EXOC3L2):c.1372-16G>A	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1655630	NM_001382422.1(EXOC3L2):c.1632G>A (p.Pro544=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1655076	NM_001382422.1(EXOC3L2):c.1270-7A>G	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1608804	NM_001382422.1(EXOC3L2):c.1932C>T (p.Thr644=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601820	NM_001382422.1(EXOC3L2):c.1279C>A (p.Arg427=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600368	NM_001382422.1(EXOC3L2):c.1720-19C>T	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600322	NM_001382422.1(EXOC3L2):c.2025C>T (p.Ala675=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1594584	NM_001382422.1(EXOC3L2):c.1696A>G (p.Asn566Asp)	EXOC3L2 (N566D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1582878	NM_001382422.1(EXOC3L2):c.1999-11C>G	BLOC1S3, EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1567010	NM_001382422.1(EXOC3L2):c.1372-7C>G	EXOC3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1528446	NM_001382422.1(EXOC3L2):c.1254C>T (p.Cys418=)	EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1503657	NM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln)	BLOC1S3, EXOC3L2 (R797Q)	Single nucleotide variant (missense variant)	not provided	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 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 1405667	NM_001382422.1(EXOC3L2):c.2176C>T (p.Arg726Cys)	BLOC1S3, EXOC3L2 (R726C)	Single nucleotide variant (missense variant)	not provided	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 1027393	NC_000019.9:g.(45728172_45730919)_(45731525_45735020)del	EXOC3L2	Deletion	Meckel-Gruber-like syndrome	GPathogenic
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 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

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