"GeneDx"[submitter] AND "CHD3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 2505752	NM_001005271.3(CHD3):c.84CGA[1] (p.Asp29del)	CHD3, NAA38 (D29del)	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1307452	NM_001005271.3(CHD3):c.88G>A (p.Glu30Lys)	CHD3, NAA38 (E30K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342761	NM_001005271.3(CHD3):c.107T>A (p.Val36Glu)	CHD3, NAA38 (V36E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343731	NM_001005271.3(CHD3):c.121G>A (p.Glu41Lys)	CHD3, NAA38 (E41K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313043	NM_001005271.3(CHD3):c.136G>A (p.Asp46Asn)	CHD3, NAA38 (D46N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580031	NM_001005271.3(CHD3):c.139G>T (p.Asp47Tyr)	CHD3, NAA38 (D47Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372398	NM_001005271.3(CHD3):c.164G>C (p.Gly55Ala)	CHD3, NAA38 (G55A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504887	NM_001005271.3(CHD3):c.176A>G (p.Asp59Gly)	CHD3, NAA38 (D59G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576817	NM_001005271.3(CHD3):c.243_251del (p.Leu83_Pro85del)	CHD3, NAA38	Deletion (intron variant)	not provided	GUncertain significance
Select item 1233832	NM_001005271.3(CHD3):c.277+8C>G	CHD3, NAA38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216249	NM_001005273.3(CHD3):c.556A>G (p.Met186Val)	CHD3 (M186V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364552	NM_001005273.3(CHD3):c.582A>C (p.Arg194Ser)	CHD3 (R194S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313116	NM_001005273.3(CHD3):c.704C>A (p.Ala235Glu)	CHD3 (A235E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804438	NM_001005273.3(CHD3):c.737C>T (p.Pro246Leu)	CHD3 (P246L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412890	NM_001005273.3(CHD3):c.784G>A (p.Glu262Lys)	CHD3 (E262K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809995	NM_001005273.3(CHD3):c.982A>G (p.Ser328Gly)	CHD3, LOC126862484 (S328G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364881	NM_001005273.3(CHD3):c.995A>G (p.His332Arg)	CHD3, LOC126862484 (H332R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363916	NM_001005273.3(CHD3):c.1043A>C (p.Lys348Thr)	CHD3, LOC126862484 (K348T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305027	NM_001005273.3(CHD3):c.1069A>C (p.Lys357Gln)	CHD3, LOC126862484 (K357Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369754	NM_001005273.3(CHD3):c.1161G>C (p.Gln387His)	CHD3, LOC126862484 (Q387H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363639	NM_001005273.3(CHD3):c.1264C>T (p.His422Tyr)	CHD3, LOC126862484 (H422Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375842	NM_001005273.3(CHD3):c.1421G>A (p.Cys474Tyr)	CHD3 (C474Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343494	NM_001005273.3(CHD3):c.1501A>G (p.Thr501Ala)	CHD3 (T501A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712642	NM_001005273.3(CHD3):c.1523G>C (p.Arg508Pro)	CHD3 (R508P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373139	NM_001005273.3(CHD3):c.1534A>C (p.Ile512Leu)	CHD3 (I512L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582117	NM_001005273.3(CHD3):c.1546C>T (p.Arg516Trp)	CHD3 (R516W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504258	NM_001005273.3(CHD3):c.1555G>A (p.Glu519Lys)	CHD3 (E519K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372595	NM_001005273.3(CHD3):c.1565T>C (p.Val522Ala)	CHD3 (V522A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369740	NM_001005273.3(CHD3):c.1571T>C (p.Val524Ala)	CHD3 (V524A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712539	NM_001005273.3(CHD3):c.1598A>T (p.Asn533Ile)	CHD3 (N533I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803610	NM_001005273.3(CHD3):c.1618dup (p.Arg540fs)	CHD3 (R540fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1315418	NM_001005273.3(CHD3):c.1612C>G (p.Pro538Ala)	CHD3 (P538A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253022	NM_001005273.3(CHD3):c.1637C>T (p.Ser546Leu)	CHD3 (S546L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191102	NM_001005273.3(CHD3):c.1643G>A (p.Arg548Gln)	CHD3 (R548Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497990	NM_001005273.3(CHD3):c.1655T>A (p.Val552Asp)	CHD3 (V552D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364780	NM_001005273.3(CHD3):c.1681C>T (p.His561Tyr)	CHD3 (H561Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304811	NM_001005273.3(CHD3):c.2152C>G (p.Pro718Ala)	CHD3 (P718A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500558	NM_001005273.3(CHD3):c.2242C>T (p.Arg748Cys)	CHD3 (R748C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507354	NM_001005273.3(CHD3):c.2243G>A (p.Arg748His)	CHD3 (R748H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252292	NM_001005273.3(CHD3):c.2277A>C (p.Leu759=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1707270	NM_001005273.3(CHD3):c.2450C>T (p.Thr817Met)	CHD3 (T817M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985572	NM_001005273.3(CHD3):c.2467C>T (p.Arg823Trp)	CHD3 (R823W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1327772	NM_001005273.3(CHD3):c.2474T>G (p.Ile825Ser)	CHD3 (I825S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429593	NM_001005273.3(CHD3):c.2551G>A (p.Ala851Thr)	CHD3 (A851T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809821	NM_001005273.3(CHD3):c.2660G>A (p.Arg887Gln)	CHD3 (R887Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310129	NM_001005273.3(CHD3):c.2806A>G (p.Asn936Asp)	CHD3 (N936D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422607	NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp)	CHD3 (R1025W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 493205	NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln)	CHD3 (R1025Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549733	NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)	CHD3 (R985Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GPathogenic
Select item 1723569	NM_001005273.3(CHD3):c.3050C>T (p.Ser1017Leu)	CHD3 (S1017L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376069	NM_001005273.3(CHD3):c.3070G>T (p.Asp1024Tyr)	CHD3 (D1024Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444558	NM_001005273.3(CHD3):c.3115G>A (p.Ala1039Thr)	CHD3 (A1039T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313006	NM_001005273.3(CHD3):c.3312G>C (p.Glu1104Asp)	CHD3 (E1104D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430762	NM_001005273.3(CHD3):c.3313C>T (p.Arg1105Cys)	CHD3 (R1105C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507115	NM_001005273.3(CHD3):c.3314G>A (p.Arg1105His)	CHD3 (R1105H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309228	NM_001005273.3(CHD3):c.3337G>A (p.Ala1113Thr)	CHD3 (A1113T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662793	NM_001005273.3(CHD3):c.3338C>T (p.Ala1113Val)	CHD3 (A1113V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702810	NM_001005273.3(CHD3):c.3358G>A (p.Asp1120Asn)	CHD3 (D1120N +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1311568	NM_001005273.3(CHD3):c.3362G>A (p.Arg1121Gln)	CHD3 (R1121Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371888	NM_001005273.3(CHD3):c.3421C>A (p.Leu1141Met)	CHD3 (L1141M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311943	NM_001005273.3(CHD3):c.3437C>T (p.Ala1146Val)	CHD3 (A1146V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549741	NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)	CHD3 (R1169W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 3252436	NM_001005273.3(CHD3):c.3540G>A (p.Met1180Ile)	CHD3 (M1180I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384736	NM_001005273.3(CHD3):c.3559C>T (p.Arg1187Cys)	CHD3 (R1187C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3363488	NM_001005273.3(CHD3):c.3652G>T (p.Gly1218Cys)	CHD3 (G1218C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334549	NM_001005273.3(CHD3):c.3655T>G (p.Ser1219Ala)	CHD3 (S1219A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365922	NM_001005273.3(CHD3):c.3763T>G (p.Tyr1255Asp)	CHD3 (Y1255D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368135	NM_001005273.3(CHD3):c.3781G>T (p.Ala1261Ser)	CHD3 (A1261S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054905	NM_001005273.3(CHD3):c.3805G>C (p.Asp1269His)	CHD3 (D1269H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378044	NM_001005273.3(CHD3):c.3839A>G (p.Asn1280Ser)	CHD3 (N1280S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373491	NM_001005273.3(CHD3):c.3877G>T (p.Val1293Leu)	CHD3 (V1293L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576575	NM_001005273.3(CHD3):c.3877G>A (p.Val1293Met)	CHD3 (V1293M +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GUncertain significance
Select item 2581744	NM_001005273.3(CHD3):c.3880C>T (p.Arg1294Trp)	CHD3 (R1294W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1214322	NM_001005273.3(CHD3):c.3895A>G (p.Ile1299Val)	CHD3 (I1299V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306197	NM_001005273.3(CHD3):c.3909G>C (p.Glu1303Asp)	CHD3 (E1303D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063588	NM_001005273.3(CHD3):c.3910C>T (p.Arg1304Ter)	CHD3 (R1304* +1 more)	Single nucleotide variant (nonsense)	Snijders Blok-Campeau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2572886	NM_001005273.3(CHD3):c.3911G>A (p.Arg1304Gln)	CHD3 (R1304Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302739	NM_001005273.3(CHD3):c.4054G>A (p.Ala1352Thr)	CHD3 (A1352T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430898	NM_001005273.3(CHD3):c.4061A>T (p.Gln1354Leu)	CHD3 (Q1354L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581946	NM_001005273.3(CHD3):c.4070A>G (p.Gln1357Arg)	CHD3 (Q1357R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311505	NM_001005273.3(CHD3):c.4078C>G (p.Gln1360Glu)	CHD3 (Q1360E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1218410	NM_001005273.3(CHD3):c.4141C>T (p.Arg1381Cys)	CHD3 (R1381C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1305902	NM_001005273.3(CHD3):c.4142G>T (p.Arg1381Leu)	CHD3 (R1381L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580726	NM_001005273.3(CHD3):c.4249C>T (p.Arg1417Trp)	CHD3 (R1417W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372612	NM_001005273.3(CHD3):c.4250G>A (p.Arg1417Gln)	CHD3 (R1417Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428795	NM_001005273.3(CHD3):c.4321G>T (p.Val1441Leu)	CHD3 (V1441L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375492	NM_001005273.3(CHD3):c.4325G>A (p.Arg1442Gln)	CHD3 (R1442Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307395	NM_001005273.3(CHD3):c.4345G>C (p.Glu1449Gln)	CHD3 (E1449Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710734	NM_001005273.3(CHD3):c.4364A>G (p.Tyr1455Cys)	CHD3 (Y1455C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579390	NM_001005273.3(CHD3):c.4372T>G (p.Leu1458Val)	CHD3 (L1458V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412959	NM_001005273.3(CHD3):c.4424C>T (p.Ala1475Val)	CHD3 (A1475V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372720	NM_001005273.3(CHD3):c.4453C>T (p.Arg1485Cys)	CHD3 (R1485C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428847	NM_001005273.3(CHD3):c.4475T>C (p.Ile1492Thr)	CHD3 (I1492T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364281	NM_001005273.3(CHD3):c.4487C>T (p.Ser1496Phe)	CHD3 (S1496F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196813	NM_001005273.3(CHD3):c.4651T>C (p.Cys1551Arg)	CHD3 (C1551R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3367624	NM_001005273.3(CHD3):c.4654A>T (p.Thr1552Ser)	CHD3 (T1552S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503164	NM_001005273.3(CHD3):c.4670C>G (p.Thr1557Ser)	CHD3 (T1557S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708879	NM_001005273.3(CHD3):c.4738G>A (p.Glu1580Lys)	CHD3 (E1580K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3370132	NM_001005273.3(CHD3):c.4778T>C (p.Met1593Thr)	CHD3 (M1593T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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