ClinVar for Gene (Select 1106) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369197	NM_001271.4(CHD2):c.2566G>T (p.Asp856Tyr)	CHD2 (D856Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368930	NM_001271.4(CHD2):c.819G>T (p.Lys273Asn)	CHD2 (K273N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368713	NM_001271.4(CHD2):c.3189G>C (p.Glu1063Asp)	CHD2 (E1063D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367951	NM_001271.4(CHD2):c.2519C>A (p.Ser840Tyr)	CHD2 (S840Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365140	NM_001271.4(CHD2):c.991A>G (p.Lys331Glu)	CHD2 (K331E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363785	NM_001271.4(CHD2):c.4994A>G (p.Tyr1665Cys)	CHD2 (Y1665C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362167	NM_001271.4(CHD2):c.1722A>G (p.Ile574Met)	CHD2 (I574M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361675	NM_001271.4(CHD2):c.1349C>T (p.Ser450Leu)	CHD2 (S450L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361011	NM_001271.4(CHD2):c.4246G>A (p.Glu1416Lys)	CHD2 (E1416K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360921	NM_001271.4(CHD2):c.625G>C (p.Asp209His)	CHD2 (D209H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360402	NM_001271.4(CHD2):c.4054G>C (p.Val1352Leu)	CHD2 (V1352L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360028	NM_001271.4(CHD2):c.982C>A (p.Gln328Lys)	CHD2 (Q328K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359551	NM_001271.4(CHD2):c.3122A>G (p.Lys1041Arg)	CHD2 (K1041R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359341	NM_001271.4(CHD2):c.901G>C (p.Asp301His)	CHD2 (D301H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359317	NM_001271.4(CHD2):c.425A>G (p.Gln142Arg)	CHD2 (Q142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359094	NM_001271.4(CHD2):c.3696_3886-11del	CHD2	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3344118	NM_001271.4(CHD2):c.1422T>C (p.Pro474=)	CHD2	Single nucleotide variant (synonymous variant)	CHD2-related disorder	GLikely benign
Select item 3343833	NM_001271.4(CHD2):c.4366A>T (p.Ile1456Phe)	CHD2 (I1456F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343336	NM_001271.4(CHD2):c.5132dup (p.His1712fs)	CHD2 (H1712fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3343010	NM_001271.4(CHD2):c.5128C>G (p.Arg1710Gly)	CHD2 (R1710G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342741	NM_001271.4(CHD2):c.824G>A (p.Gly275Glu)	CHD2 (G275E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342273	NM_001271.4(CHD2):c.2636C>G (p.Ala879Gly)	CHD2 (A879G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3342239	GRCh37/hg19 15q26.1(chr15:93486073-93486298)x1	CHD2	Copy number loss	not provided	GPathogenic
Select item 3341646	NM_001271.4(CHD2):c.2472T>C (p.Ala824=)	CHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341450	NM_001271.4(CHD2):c.3780G>C (p.Glu1260Asp)	CHD2 (E1260D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3338776	NM_001271.4(CHD2):c.4952G>A (p.Gly1651Asp)	CHD2 (G1651D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337905	NM_001271.4(CHD2):c.3161A>G (p.Lys1054Arg)	CHD2 (K1054R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337250	NM_001271.4(CHD2):c.4932_4935del (p.Arg1644fs)	CHD2 (R1644fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3266839	NM_001271.4(CHD2):c.545C>T (p.Pro182Leu)	CHD2 (P182L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256792	NM_001271.4(CHD2):c.4780C>T (p.Gln1594Ter)	CHD2 (Q1594*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3255300	NM_001271.4(CHD2):c.2190-59G>T	CHD2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255297	NM_001271.4(CHD2):c.2974-56T>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3254991	NM_001271.4(CHD2):c.598G>A (p.Gly200Arg)	CHD2 (G200R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3254728	NM_001271.4(CHD2):c.516A>C (p.Gln172His)	CHD2 (Q172H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3254727	NM_001271.4(CHD2):c.32A>G (p.Glu11Gly)	CHD2 (E11G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3253583	NM_001271.4(CHD2):c.5053del (p.Arg1685fs)	CHD2 (R1685fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3253389	NM_001271.4(CHD2):c.1535G>A (p.Gly512Asp)	CHD2 (G512D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253345	NM_001271.4(CHD2):c.5295C>G (p.Phe1765Leu)	CHD2 (F1765L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252511	NM_001271.4(CHD2):c.1691A>G (p.Tyr564Cys)	CHD2 (Y564C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251316	NM_001271.4(CHD2):c.5153+77G>A	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3243823	NC_000015.9:g.(?_93540167)_(93540653_?)dup	CHD2	Duplication	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3243822	NC_000015.9:g.(?_93552355)_(93567935_?)del	CHD2	Deletion	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 3242411	NM_001271.4(CHD2):c.3428A>G (p.Tyr1143Cys)	CHD2 (Y1143C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3239564	NM_001271.4(CHD2):c.1831T>C (p.Trp611Arg)	CHD2 (W611R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236685	NM_001271.4(CHD2):c.4582del (p.Leu1528fs)	CHD2 (L1528fs)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 3236139	NM_001271.4(CHD2):c.2596T>C (p.Ser866Pro)	CHD2 (S866P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3235889	NM_001271.4(CHD2):c.1934C>G (p.Thr645Arg)	CHD2 (T645R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3235772	NM_001271.4(CHD2):c.2033A>T (p.His678Leu)	CHD2 (H678L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235761	NM_001271.4(CHD2):c.5272C>G (p.Pro1758Ala)	CHD2 (P1758A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076079	NM_001271.4(CHD2):c.1719+1G>A	CHD2	Single nucleotide variant (splice donor variant)	Epilepsy	GPathogenic
Select item 3075662	NM_001271.4(CHD2):c.625del (p.Asp209fs)	CHD2 (D209fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 3067671	NM_001271.4(CHD2):c.2076G>C (p.Val692=)	CHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063600	NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del)	CHD2 (V883del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3063395	GRCh37/hg19 15q26.1(chr15:93531889-93588745)x1	CHD2, RGMA	Copy number loss	not specified	GPathogenic
Select item 3062238	NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)	CHD2 (L628fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3061869	NM_001271.4(CHD2):c.2426G>T (p.Arg809Leu)	CHD2 (R809L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3052062	NM_001271.4(CHD2):c.1617C>T (p.Val539=)	CHD2	Single nucleotide variant (synonymous variant)	CHD2-related disorder	GLikely benign
Select item 3044651	NM_001271.4(CHD2):c.159G>C (p.Ser53=)	CHD2	Single nucleotide variant (synonymous variant)	CHD2-related disorder	GLikely benign
Select item 3036679	NM_001271.4(CHD2):c.4278+4A>G	CHD2	Single nucleotide variant (intron variant)	CHD2-related disorder	GLikely benign
Select item 3035258	NM_001271.4(CHD2):c.2559C>T (p.Phe853=)	CHD2	Single nucleotide variant (synonymous variant)	CHD2-related disorder	GLikely benign
Select item 3031124	NM_001271.4(CHD2):c.5402C>G (p.Ser1801Ter)	CHD2 (S1801*)	Single nucleotide variant (nonsense)	CHD2-related disorder	GUncertain significance
Select item 3026787	NM_001271.4(CHD2):c.2739C>T (p.Tyr913=)	CHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020130	NM_001271.4(CHD2):c.5016C>T (p.Asp1672=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3019411	NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3017782	NM_001271.4(CHD2):c.631G>A (p.Asp211Asn)	CHD2 (D211N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3015930	NM_001271.4(CHD2):c.5243G>A (p.Arg1748His)	CHD2 (R1748H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3009986	NM_001271.4(CHD2):c.2353-18T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3008251	NM_001271.4(CHD2):c.4907-16C>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3006162	NM_001271.4(CHD2):c.1328G>C (p.Ser443Thr)	CHD2 (S443T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3005920	NM_001271.4(CHD2):c.446A>G (p.Glu149Gly)	CHD2 (E149G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3004359	NM_001271.4(CHD2):c.1052+12A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3001748	NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3001676	NM_001271.4(CHD2):c.1723C>A (p.Arg575=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 3000546	NM_001271.4(CHD2):c.62+22_62+25del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2999776	NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)	CHD2 (L79P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GConflicting classifications of pathogenicity
Select item 2998499	NM_001271.4(CHD2):c.2001-20C>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2998448	NM_001271.4(CHD2):c.2727+16C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2998040	NM_001271.4(CHD2):c.2949G>A (p.Leu983=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GBenign
Select item 2997286	NM_001271.4(CHD2):c.3595+9A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2995283	NM_001271.4(CHD2):c.2001-5C>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2994379	NM_001271.4(CHD2):c.3752G>A (p.Arg1251His)	CHD2 (R1251H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2992085	NM_001271.4(CHD2):c.2000+15G>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2990695	NM_001271.4(CHD2):c.2019T>C (p.Asp673=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2986354	NM_001271.4(CHD2):c.5471A>G (p.Asn1824Ser)	CHD2 (N1824S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2985929	NM_001271.4(CHD2):c.4009-2A>G	CHD2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 2984568	NM_001271.4(CHD2):c.5332C>T (p.Pro1778Ser)	CHD2 (P1778S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2983661	NM_001271.4(CHD2):c.3413+16G>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2981589	NM_001271.4(CHD2):c.2577+15G>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2976353	NM_001271.4(CHD2):c.1378-15G>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2972419	NM_001271.4(CHD2):c.1164A>G (p.Thr388=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2970317	NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)	CHD2 (L568V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2968667	NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)	CHD2 (K1395del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2968659	NM_001271.4(CHD2):c.3306G>A (p.Glu1102=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2965517	NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)	CHD2 (G1430V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2965248	NM_001271.4(CHD2):c.3734+20A>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2963594	NM_001271.4(CHD2):c.462A>G (p.Glu154=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2963412	NM_001271.4(CHD2):c.551+17A>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2962822	NM_001271.4(CHD2):c.3997G>A (p.Gly1333Ser)	CHD2 (G1333S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2962034	NM_001271.4(CHD2):c.2043G>T (p.Gly681=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2958974	NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)	CHD2 (G294S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance

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