ClinVar for MedGen (Select 767287) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 157

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366954	NM_001170629.2(CHD8):c.3005A>T (p.Glu1002Val)	CHD8 (E1002V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3358944	NM_001170629.2(CHD8):c.7066-4_7066-3delinsAA	CHD8	Indel (intron variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3341428	NM_001170629.2(CHD8):c.6310G>A (p.Glu2104Lys)	CHD8 (E1825K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3338638	NM_001170629.2(CHD8):c.5621T>C (p.Phe1874Ser)	CHD8 (F1595S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3338304	NM_001170629.2(CHD8):c.7267C>T (p.Arg2423Ter)	CHD8 (R2144* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3256790	NM_001170629.2(CHD8):c.7054C>T (p.Arg2352Ter)	CHD8, LOC126861888 (R2073* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 3254731	NM_001170629.2(CHD8):c.5422C>T (p.Arg1808Ter)	CHD8 (R1529* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 3248560	NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)	CHD8 (S274* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 3236416	NM_001170629.2(CHD8):c.68A>C (p.Asp23Ala)	CHD8 (D23A)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3236120	NM_001170629.2(CHD8):c.991C>T (p.Gln331Ter)	CHD8 (Q331* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 3235227	NM_001170629.2(CHD8):c.5629C>T (p.Pro1877Ser)	CHD8 (P1598S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3068393	NM_001170629.2(CHD8):c.2827C>T (p.Arg943Cys)	CHD8 (R664C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 3065999	NM_001170629.2(CHD8):c.3996_3997del (p.Gln1332fs)	CHD8 (Q1053fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 3064946	NM_001170629.2(CHD8):c.5924C>T (p.Pro1975Leu)	CHD8 (P1696L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3061887	NM_001170629.2(CHD8):c.2062del (p.Gln687_Leu688insTer)	CHD8	Deletion (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 3024317	NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)	CHD8 (R1130H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2920694	NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)	CHD8 (Q131* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2692590	NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)	CHD8 (Q38* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2692370	NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)	CHD8	Duplication	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2683918	NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)	CHD8 (I608V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2663913	NM_001170629.2(CHD8):c.5488C>T (p.Arg1830Cys)	CHD8, SNORD8 +1 more (R1551C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GConflicting classifications of pathogenicity
Select item 2627603	NM_001170629.2(CHD8):c.7182+1G>A	CHD8	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2584368	NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)	CHD8 (L1175fs +1 more)	Insertion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2584367	NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)	CHD8 (D1278fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2582437	NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)	CHD8 (R1765* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2580329	GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1	CHD8, METTL3 +5 more	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2578536	NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)	CHD8 (R533Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2574671	NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)	CHD8 (C1208F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2572571	NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)	CHD8 (L1055fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2505309	NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)	CHD8	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2443034	NM_001170629.2(CHD8):c.4285C>T (p.Arg1429Trp)	CHD8 (R1150W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 2441710	NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)	CHD8 (K199T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440016	NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)	CHD8 (M2150I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440015	NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)	CHD8 (D1667A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440014	NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)	CHD8 (R303Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440013	NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)	CHD8 (K423R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 2440012	NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)	CHD8 (T1126M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440011	NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)	CHD8 (M1686K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2440010	NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)	CHD8 (S1900del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440009	NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)	CHD8 (S358N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440008	NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)	CHD8 (G1856R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440007	NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)	CHD8 (P476S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440006	NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)	CHD8 (P213S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440005	NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)	CHD8 (Q21P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440004	NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)	CHD8 (Y1762C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440003	NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)	CHD8 (S1480C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2439084	NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)	CHD8 (R1394* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly +1 more	GPathogenic/Likely pathogenic
Select item 2439079	NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)	CHD8 (P368fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2431875	NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)	CHD8 (Y306fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2431864	NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)	CHD8 (S2296F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2431438	NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)	CHD8 (L1747P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2255565	NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)	CHD8 (R1606W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +2 more	GConflicting classifications of pathogenicity
Select item 1992411	NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)	CHD8 (L1100P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1895399	NM_001170629.2(CHD8):c.3479G>A (p.Arg1160His)	CHD8 (R1160H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1805752	NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)	CHD8 (L2232F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1805505	NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)	CHD8 (P1922S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1805207	NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)	CHD8 (H455fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1802536	NM_001170629.2(CHD8):c.2025-1G>C	CHD8	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1780600	NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)	CHD8 (V325A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 1755467	NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1712488	NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)	CHD8 (E1741D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1709073	NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)	CHD8	Indel (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1708479	NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)	CHD8 (W1897* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1699441	NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs)	CHD8 (E1264fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1699404	NM_001170629.2(CHD8):c.5744del (p.Pro1915fs)	CHD8 (P1636fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1699389	NM_001170629.2(CHD8):c.3308-2A>G	CHD8	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1694715	NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter)	CHD8 (S630* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687037	NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn)	CHD8 (Y1168N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1687036	NM_001170629.2(CHD8):c.4818-1G>A	CHD8	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1687035	NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter)	CHD8 (E410*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1685629	NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp)	CHD8 (E1201D +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1685628	NM_001170629.2(CHD8):c.6002del (p.Pro2001fs)	CHD8 (P1722fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1679265	NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala)	CHD8 (V365A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1678816	NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr)	CHD8 (H160Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678567	NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del)	CHD8, LOC126861888 (K2008del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 1497702	NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu)	CHD8 (K2094E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1350253	NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu)	CHD8 (Q365E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1342452	NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln)	CHD8 (E1111Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1338849	NM_001170629.2(CHD8):c.639A>C (p.Pro213=)	CHD8	Single nucleotide variant (synonymous variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1333801	NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln)	CHD8 (R212Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1333800	NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu)	CHD8 (P105L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1333799	NM_001170629.2(CHD8):c.2650A>G (p.Met884Val)	CHD8 (M605V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1333798	NM_001170629.2(CHD8):c.2226+3G>T	CHD8	Single nucleotide variant (intron variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1333797	NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln)	CHD8 (R214Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1330234	NM_001170629.2(CHD8):c.1601+5G>A	CHD8	Single nucleotide variant (intron variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1328373	NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter)	CHD8 (W1346* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1320695	NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg)	CHD8 (Q719R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309304	NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly)	CHD8 (R172G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 1297883	NM_001170629.2(CHD8):c.2907+12A>T	CHD8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1297051	NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs)	CHD8 (R1603fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1254644	NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del)	CHD8 (S1815del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1220256	NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter)	CHD8 (R1123* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly +2 more	GPathogenic/Likely pathogenic
Select item 1204479	NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly)	CHD8 (A1691G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1178331	NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln)	CHD8 (R1242Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1064774	NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)	CHD8 (N2092fs +1 more)	Duplication (frameshift variant)	CHD8-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1064594	NM_001170629.2(CHD8):c.3308-1G>C	CHD8	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1064564	NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His)	CHD8 (R1252H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033349	NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	CHD8 (R1582* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly +2 more	GPathogenic/Likely pathogenic
Select item 1030270	NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His)	CHD8 (R2081H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance

<< First< Prev

Page of 2