Related gene-specific medical variations for Gene (Select 90332) - ClinVar

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Items: 37

	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 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 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 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 2898955	NM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp)	BLOC1S3, EXOC3L2 (R789W)	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 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 2508880	NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His)	BLOC1S3, EXOC3L2 (Q801H)	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)	EXOC3L2, BLOC1S3 (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 2368946	NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala)	BLOC1S3, EXOC3L2 (P690A)	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 2310476	NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys)	BLOC1S3, EXOC3L2 (R701C)	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 2099016	NM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2056575	NM_001382422.1(EXOC3L2):c.2265C>A (p.Asp755Glu)	BLOC1S3, EXOC3L2 (D755E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1662737	NM_001382422.1(EXOC3L2):c.2372G>A (p.Arg791Gln)	BLOC1S3, EXOC3L2 (R791Q)	Single nucleotide variant (missense 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 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 1503657	NM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln)	BLOC1S3, EXOC3L2 (R797Q)	Single nucleotide variant (missense 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 916243	NM_001382422.1(EXOC3L2):c.2379G>A (p.Pro793=)	BLOC1S3, EXOC3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 37