Related gene-specific medical variations for Gene (Select 1106) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2867190	NM_001271.4(CHD2):c.2974-4T>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2858402	NM_001271.4(CHD2):c.2877C>T (p.Asn959=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2828909	NM_001271.4(CHD2):c.2882del (p.Asn961fs)	CHD2, LOC126862230 (N961fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 2828722	NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)	CHD2, LOC126862230 (P962T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2818152	NM_001271.4(CHD2):c.2973+18_2973+23del	CHD2, LOC126862230	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2813878	NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)	CHD2, LOC126862230 (P990S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2786405	NM_001271.4(CHD2):c.2974-10G>A	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2765989	NM_001271.4(CHD2):c.2899dup (p.Glu967fs)	CHD2, LOC126862230 (E967fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 2763813	NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)	CHD2, LOC126862230 (E982G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2726750	NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter)	CHD2, LOC126862230 (K1022*)	Duplication (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 2684770	GRCh37/hg19 15q26.1(chr15:93383740-93500862)x3	CHD2	Copy number gain	not provided	GUncertain significance
Select item 2683919	NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)	CHD2 (E922A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 2645723	NM_001271.4(CHD2):c.2892T>C (p.Asn964=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578406	NM_001271.4(CHD2):c.2211C>A (p.Tyr737Ter)	CHD2 (Y737*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 2576063	NM_001271.4(CHD2):c.820_823del (p.Lys274fs)	CHD2 (K274fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2498259	NM_001271.4(CHD2):c.2953G>A (p.Gly985Arg)	CHD2, LOC126862230 (G985R)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 2439972	NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr)	CHD2 (H1719Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439971	NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly)	CHD2 (R1707G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439970	NM_001271.4(CHD2):c.2001-4del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439968	NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser)	CHD2 (I782S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439967	NM_001271.4(CHD2):c.955A>G (p.Ser319Gly)	CHD2 (S319G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439966	NM_001271.4(CHD2):c.522A>C (p.Lys174Asn)	CHD2 (K174N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439965	NM_001271.4(CHD2):c.4289G>A (p.Gly1430Asp)	CHD2 (G1430D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2429799	NM_001271.4(CHD2):c.995_999del (p.Val332fs)	CHD2 (V332fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2429798	NM_001271.4(CHD2):c.5474T>G (p.Val1825Gly)	CHD2 (V1825G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429797	NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)	CHD2 (Y1143D)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2194682	NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2037733	NM_001271.4(CHD2):c.3066+19G>A	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 2025041	NM_001271.4(CHD2):c.2955G>C (p.Gly985=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1999447	NM_001271.4(CHD2):c.2973+8A>T	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1879306	NM_001271.4(CHD2):c.62+3644G>C	CHD2, LOC126862227	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807522	NM_001271.4(CHD2):c.1590C>T (p.His530=)	CHD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1803018	NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)	CHD2 (A869F)	Indel (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1803017	NM_001271.4(CHD2):c.4137+3A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1797836	NM_001271.4(CHD2):c.2932G>T (p.Asp978Tyr)	CHD2, LOC126862230 (D978Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1797257	NM_001271.4(CHD2):c.2889T>C (p.Phe963=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1706989	NM_001271.4(CHD2):c.3041C>T (p.Thr1014Ile)	CHD2, LOC126862230 (T1014I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704298	NM_001271.4(CHD2):c.-486T>C	CHD2, LOC130057985	Single nucleotide variant (5 prime UTR variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1701782	NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs)	CHD2 (D838fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1700204	NM_001271.4(CHD2):c.2767dup (p.Glu923fs)	CHD2 (E923fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1700203	NM_001271.4(CHD2):c.1153+3_1153+19del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1700154	NM_001271.4(CHD2):c.66_69del (p.His22fs)	CHD2 (H22fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1690325	NM_001271.4(CHD2):c.4592+37_4592+38delinsG	CHD2	Indel (intron variant)	not provided	GUncertain significance
Select item 1629888	NM_001271.4(CHD2):c.3021T>C (p.Asn1007=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1597890	NM_001271.4(CHD2):c.3012G>A (p.Thr1004=)	LOC126862230, CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1592011	NM_001271.4(CHD2):c.2907A>G (p.Thr969=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1588969	NM_001271.4(CHD2):c.2877-17A>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1580095	NM_001271.4(CHD2):c.3066+20A>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1526469	GRCh37/hg19 15q26.1(chr15:93275227-93499081)	CHD2	Copy number gain	not specified	GUncertain significance
Select item 1334432	NM_001271.4(CHD2):c.1053-1G>C	CHD2	Single nucleotide variant (splice acceptor variant)	Myoclonic-astatic epilepsy	GPathogenic
Select item 1326292	NM_001271.4(CHD2):c.3058C>T (p.Gln1020Ter)	CHD2, LOC126862230 (Q1020*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	Gnot provided
Select item 1322075	NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs)	CHD2 (T1089fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1319260	NM_001271.4(CHD2):c.1459del (p.Tyr487fs)	CHD2 (Y487fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1314803	NM_001271.4(CHD2):c.3052C>G (p.Leu1018Val)	CHD2, LOC126862230 (L1018V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310331	NM_001271.4(CHD2):c.2933A>T (p.Asp978Val)	CHD2, LOC126862230 (D978V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305445	NM_001271.4(CHD2):c.3036T>G (p.Ser1012Arg)	CHD2, LOC126862230 (S1012R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298068	NM_001271.4(CHD2):c.2974-167T>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293028	NM_001271.4(CHD2):c.3066+163G>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265792	NM_001271.4(CHD2):c.3066+21G>A	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249160	NM_001271.4(CHD2):c.2974-50A>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231234	NM_001271.4(CHD2):c.2877-47T>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201149	NM_001271.4(CHD2):c.2877-64A>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196819	NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)	CHD2, LOC126862230 (K965I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1196129	NM_001271.4(CHD2):c.2982T>G (p.Asp994Glu)	CHD2, LOC126862230 (D994E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191706	NM_001271.4(CHD2):c.3006T>C (p.Ala1002=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 1152955	NM_001271.4(CHD2):c.3036T>C (p.Ser1012=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1132468	NM_001271.4(CHD2):c.2877-5C>T	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1120810	NM_001271.4(CHD2):c.3066+8G>A	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1096584	NM_001271.4(CHD2):c.2982T>C (p.Asp994=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 1068680	NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs)	CHD2, LOC126862230 (F963fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1052356	NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile)	CHD2, LOC126862230 (T969I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1048635	NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)	CHD2 (Q463*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1019161	NM_001271.4(CHD2):c.2974-3T>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 992760	NM_001271.4(CHD2):c.4560del (p.Ser1521fs)	CHD2 (S1521fs)	Deletion (frameshift variant)	Seizure +1 more	GLikely pathogenic
Select item 987400	NM_001271.4(CHD2):c.3571C>T (p.Gln1191Ter)	CHD2 (Q1191*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987173	NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs)	CHD2 (H1663fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 987022	NM_001271.4(CHD2):c.2666G>A (p.Trp889Ter)	CHD2 (W889*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 986994	NM_001271.4(CHD2):c.231_234dup (p.Leu79fs)	CHD2 (L79fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 986910	NM_001271.4(CHD2):c.1652_1653dup (p.Phe552fs)	CHD2 (F552fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 984879	NM_001271.4(CHD2):c.2963C>G (p.Ser988Ter)	LOC126862230, CHD2 (S988*)	Single nucleotide variant (nonsense)	Complex neurodevelopmental disorder	GPathogenic
Select item 981297	NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)	CHD2, LOC126862230	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy 94 +1 more	GPathogenic/Likely pathogenic
Select item 980641	GRCh37/hg19 15q26.1(chr15:93392804-93540230)x3	CHD2	Copy number gain	not provided	GUncertain significance
Select item 976370	NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)	CHD2, LOC126862230 (T1011A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 975666	NM_001271.4(CHD2):c.2332A>C (p.Asn778His)	CHD2 (N778H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 930965	NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr)	CHD2 (P1655T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 930678	NM_001271.4(CHD2):c.3734+20A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 852825	NM_001271.4(CHD2):c.2977A>G (p.Met993Val)	CHD2, LOC126862230 (M993V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 813804	NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)	CHD2, LOC126862230 (N964K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 807315	NM_001271.4(CHD2):c.1243T>C (p.Cys415Arg)	CHD2 (C415R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744119	NM_001271.4(CHD2):c.2973+9C>T	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 694745	NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter)	CHD2 (E1335*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 681302	NM_001271.4(CHD2):c.2973+57A>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680220	NM_001271.4(CHD2):c.3066+180G>A	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 637993	NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg)	CHD2 (G1214R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 623876	NM_001271.4(CHD2):c.444-4del	CHD2	Deletion (intron variant)	not provided	GUncertain significance
Select item 522068	NM_001271.4(CHD2):c.2973G>A (p.Gln991=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance

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