"GeneDx"[submitter] AND "DDX3X"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1194345	NR_126093.1(DDX3X):n.129C>T	DDX3X, LOC130068160	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1216001	NR_126093.1(DDX3X):n.404G>C	DDX3X, LOC130068161	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1219103	NR_126093.1(DDX3X):n.409A>C	DDX3X, LOC130068161	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1213607	NR_126093.1(DDX3X):n.415del	DDX3X, LOC130068161	Deletion (non-coding transcript variant)	not provided	GLikely benign
Select item 1202310	NM_001356.5(DDX3X):c.-72G>A	DDX3X	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1313031	NM_001356.5(DDX3X):c.23A>G (p.Asn8Ser)	DDX3X (N8S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1800603	NM_001356.5(DDX3X):c.31G>A (p.Gly11Arg)	DDX3X (G11R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 504264	NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter)	DDX3X (Q14*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability +1 more	GPathogenic
Select item 3342381	NM_001356.5(DDX3X):c.45+1G>A	DDX3X	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1272632	NM_001356.5(DDX3X):c.45+195C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262432	NM_001356.5(DDX3X):c.45+196C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191106	NM_001356.5(DDX3X):c.45+316T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231810	NM_001356.5(DDX3X):c.46-244C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810575	NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter)	DDX3X (Q27*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 280593	NM_001356.5(DDX3X):c.80dup (p.Ser28fs)	DDX3X (S28fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1305113	NM_001356.5(DDX3X):c.80A>C (p.Gln27Pro)	DDX3X (Q27P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 817882	NM_001356.5(DDX3X):c.82_83del (p.Ser28fs)	DDX3X (S28fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 3252725	NM_001356.5(DDX3X):c.103+2dup	DDX3X	Duplication (splice donor variant)	not provided	GPathogenic
Select item 1207283	NM_001356.5(DDX3X):c.103+193dup	DDX3X	Duplication (intron variant)	not provided	GLikely benign
Select item 1261287	NM_001356.5(DDX3X):c.103+193del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 1231006	NM_001356.5(DDX3X):c.103+192_103+193del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 1283980	NM_001356.5(DDX3X):c.104-40dup	DDX3X	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1187506	NM_001356.5(DDX3X):c.104-4_104-3dup	DDX3X	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 778981	NM_001356.5(DDX3X):c.104-3dup	DDX3X	Duplication (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 711136	NM_001356.5(DDX3X):c.104-10A>T	DDX3X	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1215809	NM_001356.5(DDX3X):c.119CTC[1] (p.Pro41del)	DDX3X (P41del)	Microsatellite (inframe_deletion +3 more)	not provided	GPathogenic
Select item 419413	NM_001356.5(DDX3X):c.119C>G (p.Pro40Arg)	DDX3X (P40R)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 419328	NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)	DDX3X (P41S)	Single nucleotide variant (missense variant +3 more)	DDX3X-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2577548	NM_001356.5(DDX3X):c.133A>T (p.Asn45Tyr)	DDX3X (N45Y)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 620156	NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)	DDX3X (R46*)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic
Select item 423362	NM_001356.5(DDX3X):c.148A>T (p.Lys50Ter)	DDX3X (K50*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 1676940	NM_001356.5(DDX3X):c.151+1G>A	DDX3X	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1210946	NM_001356.5(DDX3X):c.151+103T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239775	NM_001356.5(DDX3X):c.151+120T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289225	NM_001356.5(DDX3X):c.152-311C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217814	NM_001356.5(DDX3X):c.152-54A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 430070	NM_001356.5(DDX3X):c.152-1G>C	DDX3X	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1804210	NM_001356.5(DDX3X):c.152G>A (p.Gly51Asp)	DDX3X (G51D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1223218	NM_001356.5(DDX3X):c.159C>T (p.Tyr53=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 817485	NM_001356.5(DDX3X):c.168_169del (p.Asp56fs)	DDX3X (D40fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 432414	NM_001356.5(DDX3X):c.172T>G (p.Ser58Ala)	DDX3X (S58A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1289008	NM_001356.5(DDX3X):c.181A>G (p.Ser61Gly)	DDX3X (S45G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1223148	NM_001356.5(DDX3X):c.194A>G (p.Asp65Gly)	DDX3X (D49G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1723790	NM_001356.5(DDX3X):c.224G>A (p.Arg75His)	DDX3X (R59H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 280371	NM_001356.5(DDX3X):c.233C>G (p.Ser78Ter)	DDX3X (S78* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 589121	NM_001356.5(DDX3X):c.234A>T (p.Ser78=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 422246	NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)	DDX3X (R79K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 504166	NM_001356.5(DDX3X):c.241_242insCTT (p.Lys81delinsThrTer)	DDX3X	Insertion (nonsense +2 more)	not provided	GPathogenic
Select item 1208727	NM_001356.5(DDX3X):c.251T>G (p.Phe84Cys)	DDX3X (F68C +1 more)	Single nucleotide variant (missense variant +2 more)	DDX3X-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 429287	NM_001356.5(DDX3X):c.255del (p.Phe85fs)	DDX3X (F69fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 2574264	NM_001356.5(DDX3X):c.262C>T (p.Arg88Cys)	DDX3X (R72C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2662694	NM_001356.5(DDX3X):c.265G>T (p.Gly89Ter)	DDX3X (G73* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2502549	NM_001356.5(DDX3X):c.280G>A (p.Gly94Arg)	DDX3X (G78R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1190430	NM_001356.5(DDX3X):c.284+72T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287043	NM_001356.5(DDX3X):c.284+289C>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187713	NM_001356.5(DDX3X):c.285-14_285-11del	DDX3X	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 3343554	NM_001356.5(DDX3X):c.302G>A (p.Arg101Gln)	DDX3X (R101Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368516	NM_001356.5(DDX3X):c.320T>C (p.Ile107Thr)	DDX3X (I107T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1300856	NM_001356.5(DDX3X):c.348T>A (p.Phe116Leu)	DDX3X (F100L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 373049	NM_001356.5(DDX3X):c.372_373del (p.Asn124fs)	DDX3X (N108fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 817971	NM_001356.5(DDX3X):c.373dup (p.Ser125fs)	DDX3X (S109fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1309516	NM_001356.5(DDX3X):c.402T>A (p.Asp134Glu)	DDX3X (D118E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1809866	NM_001356.5(DDX3X):c.416C>G (p.Pro139Arg)	DDX3X (P123R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1185840	NM_001356.5(DDX3X):c.426A>C (p.Pro142=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1704793	NM_001356.5(DDX3X):c.431A>G (p.Glu144Gly)	DDX3X (E128G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 420298	NM_001356.5(DDX3X):c.443A>G (p.Gln148Arg)	DDX3X (Q148R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1309154	NM_001356.5(DDX3X):c.444-10T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 978389	NM_001356.5(DDX3X):c.454dup (p.Ser152fs)	DDX3X (S136fs +1 more)	Duplication (frameshift variant +2 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1196594	NM_001356.5(DDX3X):c.453_454del (p.Ser152fs)	DDX3X (S136fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1312093	NM_001356.5(DDX3X):c.455C>T (p.Ser152Phe)	DDX3X (S136F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2503282	NM_001356.5(DDX3X):c.465C>A (p.Asn155Lys)	DDX3X (N139K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 523850	NM_001356.5(DDX3X):c.489C>G (p.Tyr163Ter)	DDX3X (Y163* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2845849	NM_001356.5(DDX3X):c.536T>C (p.Ile179Thr)	DDX3X (I179T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 489129	NM_001356.5(DDX3X):c.543+5G>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1274858	NM_001356.5(DDX3X):c.543+70G>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277644	NM_001356.5(DDX3X):c.543+184A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199655	NM_001356.5(DDX3X):c.544-71T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452512	NM_001356.5(DDX3X):c.544-1G>T	DDX3X	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2136022	NM_001356.5(DDX3X):c.553G>A (p.Val185Ile)	DDX3X (V169I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 225894	NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)	DDX3X (G177* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451547	NM_001356.5(DDX3X):c.592A>C (p.Thr198Pro)	DDX3X (T198P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1200185	NM_001356.5(DDX3X):c.605G>T (p.Arg202Leu)	DDX3X (R16L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2499826	NM_001356.5(DDX3X):c.610A>C (p.Thr204Pro)	DDX3X (T188P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 432784	NM_001356.5(DDX3X):c.623del (p.Lys208fs)	DDX3X (K192fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 265672	NM_001356.5(DDX3X):c.635C>A (p.Pro212His)	DDX3X (P212H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 429756	NM_001356.5(DDX3X):c.641_643delinsCC (p.Ile214fs)	DDX3X (I198fs +2 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 423442	NM_001356.5(DDX3X):c.659T>C (p.Leu220Ser)	DDX3X (L220S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 386313	NM_001356.5(DDX3X):c.675A>G (p.Gln225=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 451271	NM_001356.5(DDX3X):c.679+3_679+4inv	DDX3X	Inversion (intron variant)	not provided	GLikely pathogenic
Select item 1233497	NM_001356.5(DDX3X):c.679+125G>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215227	NM_001356.5(DDX3X):c.680-174_680-173del	DDX3X	Deletion (intron variant)	not provided	GLikely benign
Select item 1282876	NM_001356.5(DDX3X):c.680-23TTTG[2]	DDX3X	Microsatellite (intron variant)	not provided	GBenign
Select item 1699764	NM_001356.5(DDX3X):c.719G>A (p.Ser240Asn)	DDX3X (S224N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 624401	NM_001356.5(DDX3X):c.744C>T (p.Gly248=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic/Likely pathogenic
Select item 429559	NM_001356.5(DDX3X):c.748G>A (p.Ala250Thr)	DDX3X (A250T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 818047	NM_001356.5(DDX3X):c.751_752dup (p.Leu251fs)	DDX3X (L235fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3342325	NM_001356.5(DDX3X):c.760A>G (p.Met254Val)	DDX3X (M238V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575859	NM_001356.5(DDX3X):c.765G>A (p.Lys255=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 1224589	NM_001356.5(DDX3X):c.765+44G>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197983	NM_001356.5(DDX3X):c.766-84A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign

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