ClinVar for MedGen (Select 416407) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064789	NM_004366.6(CLCN2):c.73C>T (p.Arg25Trp)	CLCN2 (R25W)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11	GLikely pathogenic
Select item 3064788	NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)	CLCN2 (R585C +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11	GLikely pathogenic
Select item 2971756	NM_004366.6(CLCN2):c.937G>A (p.Asp313Asn)	CLCN2 (D269N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2714882	NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser)	CLCN2 (G525S +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 1718224	NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)	CLCN2 (I112T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 11 +1 more	GUncertain significance
Select item 1683303	NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)	CLCN2 (S675L +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more	GUncertain significance
Select item 1666290	NM_004366.6(CLCN2):c.1086-17G>A	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign/Likely benign
Select item 1622846	NM_004366.6(CLCN2):c.1856-11G>C	CLCN2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1601544	NM_004366.6(CLCN2):c.616-19C>T	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign/Likely benign
Select item 1545511	NM_004366.6(CLCN2):c.481+18G>A	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GLikely benign
Select item 1532487	NM_004366.6(CLCN2):c.726C>T (p.Ala242=)	CLCN2	Single nucleotide variant (synonymous variant)	Familial hyperaldosteronism type II +3 more	GBenign/Likely benign
Select item 1528902	NM_004366.6(CLCN2):c.1548C>A (p.Ser516=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1526081	NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser)	CLCN2 (P278S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11	GUncertain significance
Select item 1509136	NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr)	CLCN2 (A501T +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1505664	NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His)	CLCN2 (Y564H +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GUncertain significance
Select item 1495010	NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln)	CLCN2 (R581Q +2 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +4 more	GUncertain significance
Select item 1446700	NM_004366.6(CLCN2):c.1715G>A (p.Arg572His)	CLCN2 (R572H +2 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +3 more	GUncertain significance
Select item 1442624	NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met)	CLCN2 (T361M +1 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +3 more	GUncertain significance
Select item 1407525	NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)	CLCN2 (R852H +3 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +4 more	GUncertain significance
Select item 1403342	NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser)	CLCN2 (P52S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1342325	NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)	CLCN2 (L831V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +2 more	GUncertain significance
Select item 1335552	NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu)	CLCN2 (V490L +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +4 more	GUncertain significance
Select item 1335551	NM_004366.6(CLCN2):c.2499G>A (p.Lys833=)	CLCN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GLikely benign
Select item 1300131	NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met)	CLCN2 (T473M +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11	GLikely pathogenic
Select item 1279936	NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)	CLCN2 (L179fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1208813	NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val)	CLCN2 (A462V +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +4 more	GUncertain significance
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 1049612	NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr)	CLCN2 (R609T +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more	GLikely benign
Select item 809577	NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)	CLCN2 (L196P +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 786823	NM_004366.6(CLCN2):c.2143+8C>T	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GLikely benign
Select item 772764	NM_004366.6(CLCN2):c.1491G>A (p.Gly497=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 772363	NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)	CLCN2 (P337A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 772083	NM_004366.6(CLCN2):c.879A>G (p.Ala293=)	CLCN2	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GLikely benign
Select item 772042	NM_004366.6(CLCN2):c.1128G>A (p.Thr376=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 767451	NM_004366.6(CLCN2):c.936C>G (p.Leu312=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 759309	NM_004366.6(CLCN2):c.221-4C>A	CLCN2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 732587	NM_004366.6(CLCN2):c.221-8G>A	CLCN2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 707536	NM_004366.6(CLCN2):c.672C>T (p.Ser224=)	CLCN2	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GLikely benign
Select item 707110	NM_004366.6(CLCN2):c.2415+9A>G	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign
Select item 598765	NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro)	CLCN2 (T139P +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11	GUncertain significance
Select item 445441	NM_004366.6(CLCN2):c.2271+8T>G	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign/Likely benign
Select item 441164	NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)	CLCN2 (R172Q +1 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +2 more	GPathogenic
Select item 376979	NM_004366.6(CLCN2):c.2415+4_2415+5dup	CLCN2	Duplication (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign/Likely benign
Select item 217782	NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)	CLCN2 (A760V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 217777	NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)	CLCN2 (R688Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 217775	NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)	CLCN2 (R646Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 217774	NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)	CLCN2 (R644C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 100629	NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)	CLCN2 (W570* +2 more)	Single nucleotide variant (nonsense)	CLCN2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 9039	NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)	CLCN2 (R577Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 9038	NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)	CLCN2 (R235Q +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more	GConflicting classifications of pathogenicity
Select item 9036	NM_004366.6(CLCN2):c.221-14_221-4del	CLCN2	Deletion (intron variant)	not provided	GLikely benign

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Items: 52