25075[HGNC] - 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 733617	NM_032270.5(LRRC8C):c.9C>T (p.Pro3=)	LRRC8C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3120985	NM_032270.5(LRRC8C):c.22C>T (p.Arg8Trp)	LRRC8C (R8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609528	NM_032270.5(LRRC8C):c.32C>G (p.Ser11Cys)	LRRC8C (S11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364445	NM_032270.5(LRRC8C):c.115G>A (p.Gly39Ser)	LRRC8C (G39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286538	NM_032270.5(LRRC8C):c.128G>A (p.Cys43Tyr)	LRRC8C (C43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234376	NM_032270.5(LRRC8C):c.174A>C (p.Arg58Ser)	LRRC8C (R58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353067	NM_032270.5(LRRC8C):c.206C>T (p.Ser69Leu)	LRRC8C (S69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238363	NM_032270.5(LRRC8C):c.256C>T (p.Pro86Ser)	LRRC8C (P86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291769	NM_032270.5(LRRC8C):c.304G>T (p.Asp102Tyr)	LRRC8C (D102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539392	NM_032270.5(LRRC8C):c.417G>T (p.Met139Ile)	LRRC8C (M139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265030	NM_032270.5(LRRC8C):c.1195A>C (p.Lys399Gln)	LRRC8C (K399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490390	NM_032270.5(LRRC8C):c.1222G>A (p.Glu408Lys)	LRRC8C (E408K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385563	NM_032270.5(LRRC8C):c.1228A>T (p.Thr410Ser)	LRRC8C (T410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791800	NM_032270.5(LRRC8C):c.1341A>G (p.Gln447=)	LRRC8C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233835	NM_032270.5(LRRC8C):c.1400A>T (p.Asp467Val)	LRRC8C (D467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120979	NM_032270.5(LRRC8C):c.1442T>C (p.Ile481Thr)	LRRC8C (I481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291770	NM_032270.5(LRRC8C):c.1451C>T (p.Ala484Val)	LRRC8C (A484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120980	NM_032270.5(LRRC8C):c.1454C>T (p.Ala485Val)	LRRC8C (A485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120981	NM_032270.5(LRRC8C):c.1492G>A (p.Val498Ile)	LRRC8C (V498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488673	NM_032270.5(LRRC8C):c.1507A>G (p.Met503Val)	LRRC8C (M503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120982	NM_032270.5(LRRC8C):c.1577G>A (p.Ser526Asn)	LRRC8C (S526N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260032	NM_032270.5(LRRC8C):c.1669C>G (p.Pro557Ala)	LRRC8C (P557A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782230	NM_032270.5(LRRC8C):c.1714A>G (p.Ile572Val)	LRRC8C (I572V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3120983	NM_032270.5(LRRC8C):c.1723G>C (p.Asp575His)	LRRC8C (D575H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273367	NM_032270.5(LRRC8C):c.1748A>G (p.Asn583Ser)	LRRC8C (N583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547429	NM_032270.5(LRRC8C):c.1810A>C (p.Ile604Leu)	LRRC8C (I604L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295666	NM_032270.5(LRRC8C):c.1925T>G (p.Leu642Arg)	LRRC8C (L642R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238270	NM_032270.5(LRRC8C):c.2009A>G (p.Asn670Ser)	LRRC8C (N670S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120984	NM_032270.5(LRRC8C):c.2057G>A (p.Arg686Gln)	LRRC8C (R686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472393	NM_032270.5(LRRC8C):c.2071T>C (p.Ser691Pro)	LRRC8C (S691P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312216	NM_032270.5(LRRC8C):c.2087G>A (p.Arg696Gln)	LRRC8C (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223727	NM_032270.5(LRRC8C):c.2129A>G (p.Tyr710Cys)	LRRC8C (Y710C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291768	NM_032270.5(LRRC8C):c.2351T>G (p.Val784Gly)	LRRC8C (V784G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222315	NM_032270.5(LRRC8C):c.2386G>A (p.Val796Ile)	LRRC8C (V796I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120986	NM_032270.5(LRRC8C):c.2390G>A (p.Arg797Gln)	LRRC8C (R797Q)	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 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

ClinVar

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Items: 45