"GeneDx"[submitter] AND "CLCN2"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 1319023	NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)	CLCN2 (D851N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1699753	NM_004366.6(CLCN2):c.2579G>A (p.Ser860Asn)	CLCN2 (S816N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317105	NM_004366.6(CLCN2):c.2528T>G (p.Val843Gly)	CLCN2 (V799G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662140	NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln)	CLCN2 (R792Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258732	NM_004366.6(CLCN2):c.2416-107G>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241119	NM_004366.6(CLCN2):c.2415+147C>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707110	NM_004366.6(CLCN2):c.2415+9A>G	CLCN2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 217796	NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter)	CLCN2 (Q796* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1279047	NM_004366.6(CLCN2):c.2144-77T>C	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293071	NM_004366.6(CLCN2):c.2028+21C>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315588	NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro)	CLCN2 (T613P +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 217774	NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)	CLCN2 (R644C +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +4 more	GBenign/Likely benign
Select item 217794	NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn)	CLCN2 (D599N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1316088	NM_004366.6(CLCN2):c.1792C>T (p.Arg598Trp)	CLCN2 (R554W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703392	NM_004366.6(CLCN2):c.1766C>T (p.Pro589Leu)	CLCN2 (P545L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801192	NM_004366.6(CLCN2):c.1721+5G>A	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +1 more	GUncertain significance
Select item 100629	NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)	CLCN2 (W570* +2 more)	Single nucleotide variant (nonsense)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more	GPathogenic/Likely pathogenic
Select item 1318421	NM_004366.6(CLCN2):c.1639A>C (p.Ser547Arg)	CLCN2 (S503R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317227	NM_004366.6(CLCN2):c.1529C>T (p.Ala510Val)	CLCN2 (A466V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208813	NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val)	CLCN2 (A462V +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1182479	NM_004366.6(CLCN2):c.1507+41dup	CLCN2	Duplication (intron variant)	not provided	GBenign
Select item 503993	NM_004366.6(CLCN2):c.1420_1423del (p.Gly474fs)	CLCN2 (G474fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 217791	NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)	CLCN2 (R471H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperaldosteronism type II +2 more	GPathogenic/Likely pathogenic
Select item 1168067	NM_004366.6(CLCN2):c.1397-13C>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230679	NM_004366.6(CLCN2):c.1396+60C>G	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383187	NM_004366.6(CLCN2):c.1327-5T>C	CLCN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 217788	NM_004366.6(CLCN2):c.1143del (p.Gly382fs)	CLCN2 (G382fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1224803	NM_004366.6(CLCN2):c.1101G>A (p.Pro367=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1194517	NM_004366.6(CLCN2):c.898+1G>A	CLCN2	Single nucleotide variant (splice donor variant)	Familial hyperaldosteronism type II +3 more	GLikely pathogenic
Select item 1800808	NM_004366.6(CLCN2):c.693+4A>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1164960	NM_004366.6(CLCN2):c.481+12G>A	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684072	NM_004366.6(CLCN2):c.481G>A (p.Gly161Ser)	CLCN2 (G117S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315589	NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)	CLCN2 (R124W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 217771	NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)	CLCN2 (F82L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1318957	NM_004366.6(CLCN2):c.220G>A (p.Val74Ile)	CLCN2 (A74T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427066	NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)	CLCN2 (G24D)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +1 more	GPathogenic/Likely pathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 41