LRRC8B[gene] - ClinVar

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Items: 45

	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 784444	NM_001369817.2(LRRC8B):c.117C>T (p.Ala39=)	LRRC8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389874	NM_001369817.2(LRRC8B):c.118G>A (p.Val40Met)	LRRC8B (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120975	NM_001369817.2(LRRC8B):c.191A>G (p.Asn64Ser)	LRRC8B (N64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514634	NM_001369817.2(LRRC8B):c.199G>A (p.Ala67Thr)	LRRC8B (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222017	NM_001369817.2(LRRC8B):c.218T>C (p.Leu73Pro)	LRRC8B (L73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588388	NM_001369817.2(LRRC8B):c.245A>C (p.Asn82Thr)	LRRC8B (N82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120976	NM_001369817.2(LRRC8B):c.275G>A (p.Arg92Gln)	LRRC8B (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369750	NM_001369817.2(LRRC8B):c.322G>A (p.Val108Ile)	LRRC8B (V108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120977	NM_001369817.2(LRRC8B):c.547C>T (p.Leu183Phe)	LRRC8B (L183F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542438	NM_001369817.2(LRRC8B):c.551C>A (p.Ser184Tyr)	LRRC8B (S184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720897	NM_001369817.2(LRRC8B):c.573G>A (p.Ser191=)	LRRC8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2368840	NM_001369817.2(LRRC8B):c.661C>T (p.Pro221Ser)	LRRC8B (P221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120978	NM_001369817.2(LRRC8B):c.728G>A (p.Arg243Lys)	LRRC8B (R243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782380	NM_001369817.2(LRRC8B):c.862G>A (p.Asp288Asn)	LRRC8B (D288N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2220016	NM_001369817.2(LRRC8B):c.865T>G (p.Cys289Gly)	LRRC8B (C289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780245	NM_001369817.2(LRRC8B):c.879G>A (p.Val293=)	LRRC8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3291764	NM_001369817.2(LRRC8B):c.1115T>A (p.Leu372Gln)	LRRC8B (L372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356357	NM_001369817.2(LRRC8B):c.1289A>G (p.Asn430Ser)	LRRC8B (N430S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120968	NM_001369817.2(LRRC8B):c.1291G>A (p.Gly431Ser)	LRRC8B (G431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291766	NM_001369817.2(LRRC8B):c.1292G>A (p.Gly431Asp)	LRRC8B (G431D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523538	NM_001369817.2(LRRC8B):c.1373C>T (p.Ala458Val)	LRRC8B (A458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337093	NM_001369817.2(LRRC8B):c.1396A>C (p.Lys466Gln)	LRRC8B (K466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770489	NM_001369817.2(LRRC8B):c.1406G>A (p.Arg469His)	LRRC8B (R469H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3120969	NM_001369817.2(LRRC8B):c.1469A>G (p.Lys490Arg)	LRRC8B (K490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120970	NM_001369817.2(LRRC8B):c.1573C>G (p.Gln525Glu)	LRRC8B (Q525E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409258	NM_001369817.2(LRRC8B):c.1575G>C (p.Gln525His)	LRRC8B (Q525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120972	NM_001369817.2(LRRC8B):c.1587G>A (p.Met529Ile)	LRRC8B (M529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120973	NM_001369817.2(LRRC8B):c.1633T>G (p.Leu545Val)	LRRC8B (L545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242757	NM_001369817.2(LRRC8B):c.1726G>A (p.Val576Ile)	LRRC8B (V576I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120974	NM_001369817.2(LRRC8B):c.1840G>A (p.Asp614Asn)	LRRC8B (D614N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291765	NM_001369817.2(LRRC8B):c.1892A>G (p.His631Arg)	LRRC8B (H631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730837	NM_001369817.2(LRRC8B):c.1918T>C (p.Leu640=)	LRRC8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3291767	NM_001369817.2(LRRC8B):c.2215A>G (p.Asn739Asp)	LRRC8B (N739D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338390	NM_001369817.2(LRRC8B):c.2335A>C (p.Ile779Leu)	LRRC8B (I779L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604620	NM_001369817.2(LRRC8B):c.2383C>T (p.Arg795Cys)	LRRC8B (R795C)	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 2685510	GRCh37/hg19 1p22.2(chr1:89987724-90061014)x1	LRRC8B	Copy number loss	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 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 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: 45