55144[Gene ID] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 3120996	NM_001134479.2(LRRC8D):c.77T>C (p.Val26Ala)	LRRC8D (V26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383007	NM_001134479.2(LRRC8D):c.212G>A (p.Gly71Glu)	LRRC8D (G71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120992	NM_001134479.2(LRRC8D):c.223G>A (p.Val75Ile)	LRRC8D (V75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302997	NM_001134479.2(LRRC8D):c.233A>G (p.Asn78Ser)	LRRC8D (N78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291772	NM_001134479.2(LRRC8D):c.289G>A (p.Asp97Asn)	LRRC8D (D97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120994	NM_001134479.2(LRRC8D):c.304A>G (p.Thr102Ala)	LRRC8D (T102A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522273	NM_001134479.2(LRRC8D):c.361G>A (p.Ala121Thr)	LRRC8D (A121T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277531	NM_001134479.2(LRRC8D):c.521T>G (p.Ile174Ser)	LRRC8D (I174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120995	NM_001134479.2(LRRC8D):c.660C>A (p.Asp220Glu)	LRRC8D (D220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527684	NM_001134479.2(LRRC8D):c.697A>G (p.Thr233Ala)	LRRC8D (T233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291771	NM_001134479.2(LRRC8D):c.732A>C (p.Glu244Asp)	LRRC8D (E244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377898	NM_001134479.2(LRRC8D):c.994G>A (p.Ala332Thr)	LRRC8D (A332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266068	NM_001134479.2(LRRC8D):c.1110A>G (p.Ile370Met)	LRRC8D (I370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492885	NM_001134479.2(LRRC8D):c.1396C>T (p.Arg466Cys)	LRRC8D (R466C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120987	NM_001134479.2(LRRC8D):c.1450G>A (p.Asp484Asn)	LRRC8D (D484N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120988	NM_001134479.2(LRRC8D):c.1541A>G (p.Asn514Ser)	LRRC8D (N514S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120989	NM_001134479.2(LRRC8D):c.1639A>G (p.Thr547Ala)	LRRC8D (T547A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514086	NM_001134479.2(LRRC8D):c.1709A>G (p.Asn570Ser)	LRRC8D (N570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120990	NM_001134479.2(LRRC8D):c.1727A>G (p.Asn576Ser)	LRRC8D (N576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474493	NM_001134479.2(LRRC8D):c.1856A>G (p.His619Arg)	LRRC8D (H619R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289858	NM_001134479.2(LRRC8D):c.2008A>T (p.Ile670Phe)	LRRC8D (I670F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120991	NM_001134479.2(LRRC8D):c.2083A>C (p.Ile695Leu)	LRRC8D (I695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268856	NM_001134479.2(LRRC8D):c.2341A>C (p.Asn781His)	LRRC8D (N781H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396426	NM_001134479.2(LRRC8D):c.2435G>A (p.Arg812His)	LRRC8D (R812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120993	NM_001134479.2(LRRC8D):c.2461C>G (p.Arg821Gly)	LRRC8D (R821G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979886	GRCh37/hg19 1p22.2(chr1:90122068-90334780)x3	LRRC8D, LRRC8C	Copy number gain	not provided	GUncertain significance
Select item 686296	GRCh37/hg19 1p22.2(chr1:89546802-90520362)x1	GBP2, GBP4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565121	GRCh37/hg19 1p22.2(chr1:90259613-90631849)x3	ZNF326, LRRC8D	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 36