LRRC8A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 58499	GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3	DOLK, ENDOG +16 more	Copy number gain	See cases	GUncertain significance
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 1257143	NM_019594.4(LRRC8A):c.-8-11C>T	LRRC8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920758	NM_019594.4(LRRC8A):c.-2C>T	LRRC8A	Single nucleotide variant (5 prime UTR variant)	Agammaglobulinemia 5, autosomal dominant +1 more	GBenign
Select item 2999954	NM_019594.4(LRRC8A):c.9G>A (p.Pro3=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817643	NM_019594.4(LRRC8A):c.23G>A (p.Arg8His)	LRRC8A (R8H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635972	NM_019594.4(LRRC8A):c.33G>A (p.Ala11=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3001427	NM_019594.4(LRRC8A):c.38C>T (p.Thr13Met)	LRRC8A (T13M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979570	NM_019594.4(LRRC8A):c.39G>A (p.Thr13=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705360	NM_019594.4(LRRC8A):c.44C>T (p.Pro15Leu)	LRRC8A (P15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612851	NM_019594.4(LRRC8A):c.48A>G (p.Ala16=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716394	NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=)	LRRC8A	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 5, autosomal dominant +2 more	GBenign
Select item 1584240	NM_019594.4(LRRC8A):c.66G>A (p.Pro22=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357250	NM_019594.4(LRRC8A):c.88_90del (p.Tyr30del)	LRRC8A (Y30del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1602970	NM_019594.4(LRRC8A):c.99C>T (p.Ile33=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443193	NM_019594.4(LRRC8A):c.100G>A (p.Val34Ile)	LRRC8A (V34I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1396706	NM_019594.4(LRRC8A):c.103A>G (p.Met35Val)	LRRC8A (M35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991663	NM_019594.4(LRRC8A):c.104T>A (p.Met35Lys)	LRRC8A (M35K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790627	NM_019594.4(LRRC8A):c.117C>T (p.Ala39=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2079673	NM_019594.4(LRRC8A):c.120C>T (p.Val40=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566925	NM_019594.4(LRRC8A):c.123C>T (p.Phe41=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2020229	NM_019594.4(LRRC8A):c.126G>A (p.Gly42=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963792	NM_019594.4(LRRC8A):c.132G>A (p.Thr44=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615361	NM_019594.4(LRRC8A):c.144C>T (p.Thr48=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029744	NM_019594.4(LRRC8A):c.174G>A (p.Lys58=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604440	NM_019594.4(LRRC8A):c.189C>T (p.Asp63=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485935	NM_019594.4(LRRC8A):c.199G>T (p.Asp67Tyr)	LRRC8A (D67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801365	NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu)	LRRC8A (S68L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2730800	NM_019594.4(LRRC8A):c.204G>A (p.Ser68=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518695	NM_019594.4(LRRC8A):c.207C>A (p.Phe69Leu)	LRRC8A (F69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469130	NM_019594.4(LRRC8A):c.208C>T (p.Arg70Trp)	LRRC8A (R70W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2149825	NM_019594.4(LRRC8A):c.209G>A (p.Arg70Gln)	LRRC8A (R70Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2163944	NM_019594.4(LRRC8A):c.211G>A (p.Gly71Ser)	LRRC8A (G71S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955034	NM_019594.4(LRRC8A):c.211G>C (p.Gly71Arg)	LRRC8A (G71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788242	NM_019594.4(LRRC8A):c.217G>T (p.Ala73Ser)	LRRC8A (A73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771790	NM_019594.4(LRRC8A):c.228C>T (p.Gly76=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917775	NM_019594.4(LRRC8A):c.230C>T (p.Pro77Leu)	LRRC8A (P77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931798	NM_019594.4(LRRC8A):c.231G>A (p.Pro77=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875198	NM_019594.4(LRRC8A):c.234G>A (p.Glu78=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979080	NM_019594.4(LRRC8A):c.237C>T (p.Pro79=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984881	NM_019594.4(LRRC8A):c.239C>T (p.Thr80Ile)	LRRC8A (T80I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2484765	NM_019594.4(LRRC8A):c.245C>T (p.Pro82Leu)	LRRC8A (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2810962	NM_019594.4(LRRC8A):c.253A>T (p.Thr85Ser)	LRRC8A (T85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400758	NM_019594.4(LRRC8A):c.263C>T (p.Pro88Leu)	LRRC8A (P88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142113	NM_019594.4(LRRC8A):c.264G>A (p.Pro88=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556953	NM_019594.4(LRRC8A):c.267C>T (p.Thr89=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2071719	NM_019594.4(LRRC8A):c.274A>G (p.Thr92Ala)	LRRC8A (T92A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442334	NM_019594.4(LRRC8A):c.275C>T (p.Thr92Met)	LRRC8A (T92M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414718	NM_019594.4(LRRC8A):c.276G>A (p.Thr92=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3120966	NM_019594.4(LRRC8A):c.284C>T (p.Thr95Ile)	LRRC8A (T95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2783847	NM_019594.4(LRRC8A):c.286G>A (p.Gly96Ser)	LRRC8A (G96S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997134	NM_019594.4(LRRC8A):c.292A>C (p.Lys98Gln)	LRRC8A (K98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853768	NM_019594.4(LRRC8A):c.315G>A (p.Gln105=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536968	NM_019594.4(LRRC8A):c.320A>G (p.Asn107Ser)	LRRC8A (N107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728155	NM_019594.4(LRRC8A):c.324C>T (p.Tyr108=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2993489	NM_019594.4(LRRC8A):c.325G>A (p.Val109Met)	LRRC8A (V109M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418540	NM_019594.4(LRRC8A):c.325G>T (p.Val109Leu)	LRRC8A (V109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894074	NM_019594.4(LRRC8A):c.330C>T (p.Asp110=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164444	NM_019594.4(LRRC8A):c.333T>C (p.Ala111=)	LRRC8A	Single nucleotide variant (synonymous variant)	LRRC8A-related disorder +1 more	GBenign
Select item 2851876	NM_019594.4(LRRC8A):c.336G>A (p.Val112=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767644	NM_019594.4(LRRC8A):c.341A>G (p.Tyr114Cys)	LRRC8A (Y114C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189180	NM_019594.4(LRRC8A):c.351A>C (p.Arg117=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847967	NM_019594.4(LRRC8A):c.355C>T (p.His119Tyr)	LRRC8A (H119Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523860	NM_019594.4(LRRC8A):c.356A>G (p.His119Arg)	LRRC8A (H119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1901315	NM_019594.4(LRRC8A):c.369G>A (p.Lys123=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706495	NM_019594.4(LRRC8A):c.382C>G (p.Leu128Val)	LRRC8A (L128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811826	NM_019594.4(LRRC8A):c.389T>C (p.Leu130Pro)	LRRC8A (L130P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865867	NM_019594.4(LRRC8A):c.396C>T (p.His132=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968708	NM_019594.4(LRRC8A):c.399G>A (p.Thr133=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891038	NM_019594.4(LRRC8A):c.402C>T (p.Leu134=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374298	NM_019594.4(LRRC8A):c.407T>A (p.Phe136Tyr)	LRRC8A (F136Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982323	NM_019594.4(LRRC8A):c.441G>A (p.Pro147=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952737	NM_019594.4(LRRC8A):c.442C>T (p.Arg148Cys)	LRRC8A (R148C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926302	NM_019594.4(LRRC8A):c.443G>A (p.Arg148His)	LRRC8A (R148H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1588287	NM_019594.4(LRRC8A):c.453G>A (p.Ser151=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014816	NM_019594.4(LRRC8A):c.456G>A (p.Lys152=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053562	NM_019594.4(LRRC8A):c.465C>T (p.His155=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899065	NM_019594.4(LRRC8A):c.469G>A (p.Val157Met)	LRRC8A (V157M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1100965	NM_019594.4(LRRC8A):c.492C>T (p.Phe164=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066853	NM_019594.4(LRRC8A):c.493G>A (p.Asp165Asn)	LRRC8A (D165N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081965	NM_019594.4(LRRC8A):c.510G>A (p.Thr170=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720133	NM_019594.4(LRRC8A):c.515C>T (p.Ala172Val)	LRRC8A (A172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975986	NM_019594.4(LRRC8A):c.516C>T (p.Ala172=)	LRRC8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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