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

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2989766	NM_001382422.1(EXOC3L2):c.1999-20G>A	EXOC3L2, BLOC1S3	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)	Inborn genetic diseases	GUncertain significance
Select item 2508880	NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His)	BLOC1S3, EXOC3L2 (Q801H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412207	NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met)	BLOC1S3, EXOC3L2 (V732M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406763	NM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val)	EXOC3L2, BLOC1S3 (A754V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405044	NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp)	BLOC1S3, EXOC3L2 (R791W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368946	NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala)	EXOC3L2, BLOC1S3 (P690A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357848	NM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln)	EXOC3L2, BLOC1S3 (R799Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310476	NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys)	EXOC3L2, BLOC1S3 (R701C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267176	NM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His)	EXOC3L2, BLOC1S3 (R701H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	EXOC3L2-related condition +1 more	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	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: 26