ClinVar for MedGen (Select 815608) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1679

<< First< Prev

Page of 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382775	NM_001271.4(CHD2):c.2165C>A (p.Ser722Ter)	CHD2 (S722*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 3382685	NM_001271.4(CHD2):c.3735-1G>A	CHD2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3382683	NM_001271.4(CHD2):c.1628C>A (p.Ser543Tyr)	CHD2 (S543Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3381754	NM_001271.4(CHD2):c.3069dup (p.Ala1024fs)	CHD2 (A1024fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3381247	NM_001271.4(CHD2):c.4136A>G (p.Lys1379Arg)	CHD2 (K1379R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3381167	NM_001271.4(CHD2):c.3610A>T (p.Lys1204Ter)	CHD2 (K1204*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 3377688	NM_001271.4(CHD2):c.1823G>A (p.Ser608Asn)	CHD2 (S608N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 3377582	NM_001271.4(CHD2):c.1053-2A>T	CHD2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
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 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 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 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 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 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 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 3075662	NM_001271.4(CHD2):c.625del (p.Asp209fs)	CHD2 (D209fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
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 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 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
Select item 2956583	NM_001271.4(CHD2):c.4907-7C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2955027	NM_001271.4(CHD2):c.5251A>G (p.Met1751Val)	CHD2 (M1751V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2920714	NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)	CHD2 (S1213P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 2918965	NM_001271.4(CHD2):c.3298G>C (p.Ala1100Pro)	CHD2 (A1100P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2918602	NM_001271.4(CHD2):c.3596-10T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2916002	NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2915495	NM_001271.4(CHD2):c.5359C>A (p.Pro1787Thr)	CHD2 (P1787T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2915098	NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)	CHD2 (I822V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2913936	NM_001271.4(CHD2):c.1208G>A (p.Arg403Gln)	CHD2 (R403Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2913756	NM_001271.4(CHD2):c.4008+9G>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2913517	NM_001271.4(CHD2):c.4319G>A (p.Arg1440Gln)	CHD2 (R1440Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2913304	NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)	CHD2 (R1440*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 2912688	NM_001271.4(CHD2):c.849A>T (p.Val283=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2912164	NM_001271.4(CHD2):c.4787A>G (p.His1596Arg)	CHD2 (H1596R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2911994	NM_001271.4(CHD2):c.4667A>G (p.His1556Arg)	CHD2 (H1556R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2910264	NM_001271.4(CHD2):c.4593-14A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2908205	NM_001271.4(CHD2):c.1153+9A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2907600	NM_001271.4(CHD2):c.4008+10C>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2907510	NM_001271.4(CHD2):c.1809+15T>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2906822	NM_001271.4(CHD2):c.1198+12A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2905047	NM_001271.4(CHD2):c.4212A>T (p.Gln1404His)	CHD2 (Q1404H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2902738	NM_001271.4(CHD2):c.2577+9T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2901413	NM_001271.4(CHD2):c.4138-11T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2899353	NM_001271.4(CHD2):c.4008+19G>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2898957	NM_001271.4(CHD2):c.4009-3C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2893861	NM_001271.4(CHD2):c.4319G>C (p.Arg1440Pro)	CHD2 (R1440P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2893036	NM_001271.4(CHD2):c.2827A>G (p.Met943Val)	CHD2 (M943V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2892305	NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)	CHD2 (S1197G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2891422	NM_001271.4(CHD2):c.3811C>T (p.Leu1271=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2890375	NM_001271.4(CHD2):c.2877-4A>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2890139	NM_001271.4(CHD2):c.3414-5_3414-3del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2888843	NM_001271.4(CHD2):c.2353-16T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2887372	NM_001271.4(CHD2):c.3886-18C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2883280	NM_001271.4(CHD2):c.2352+15A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2880253	NM_001271.4(CHD2):c.5154-9_5154-8del	CHD2	Microsatellite (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2877012	NM_001271.4(CHD2):c.1080A>G (p.Val360=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2871067	NM_001271.4(CHD2):c.5288G>A (p.Arg1763His)	CHD2 (R1763H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2870696	NM_001271.4(CHD2):c.3584A>G (p.Asn1195Ser)	CHD2 (N1195S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance

<< First< Prev

Page of 17