ClinVar for Gene (Select 1654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380739	NM_001356.5(DDX3X):c.499C>A (p.Pro167Thr)	DDX3X (P151T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3377457	NM_001356.5(DDX3X):c.1499dup (p.Ala501fs)	DDX3X (A315fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3377421	NM_001356.5(DDX3X):c.971C>T (p.Pro324Leu)	DDX3X (P138L +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3376831	NM_001356.5(DDX3X):c.835G>C (p.Ala279Pro)	DDX3X (A263P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 3376816	NM_001356.5(DDX3X):c.1295T>C (p.Leu432Pro)	DDX3X (L246P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 3374837	NM_001356.5(DDX3X):c.1497+19C>T	DDX3X	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3373564	NM_001356.5(DDX3X):c.800C>A (p.Pro267Gln)	DDX3X (P251Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373446	NM_001356.5(DDX3X):c.1325C>G (p.Ser442Ter)	DDX3X (S256* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3372726	NM_001356.5(DDX3X):c.1535A>C (p.His512Pro)	DDX3X (H326P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370931	NM_001356.5(DDX3X):c.1406C>T (p.Thr469Ile)	DDX3X (T283I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370302	NM_001356.5(DDX3X):c.1547T>C (p.Phe516Ser)	DDX3X (F330S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3369290	NM_001356.5(DDX3X):c.766G>A (p.Glu256Lys)	DDX3X (E240K +2 more)	Single nucleotide variant (missense variant +1 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 3366950	NM_001356.5(DDX3X):c.676A>G (p.Thr226Ala)	DDX3X (T210A +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3365241	NM_001356.5(DDX3X):c.1029C>G (p.Tyr343Ter)	DDX3X (Y157* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3365195	NM_001356.5(DDX3X):c.1351A>G (p.Lys451Glu)	DDX3X (K265E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362866	NM_001356.5(DDX3X):c.1910-1G>T	DDX3X	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 3361840	NM_001356.5(DDX3X):c.820C>G (p.Pro274Ala)	DDX3X (P258A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3361445	NM_001356.5(DDX3X):c.53G>A (p.Gly18Asp)	DDX3X (G18D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3359410	NM_001356.5(DDX3X):c.1852_1866dup (p.Arg622_Ser623insAlaSerSerSerArg)	DDX3X	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3359111	NM_001356.5(DDX3X):c.1663G>T (p.Asp555Tyr)	DDX3X (D369Y +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 3344331	NM_001356.5(DDX3X):c.773del (p.Gly258fs)	DDX3X (G242fs +2 more)	Deletion (frameshift variant +1 more)	DDX3X-related disorder	GPathogenic
Select item 3344174	NM_001356.5(DDX3X):c.1021T>C (p.Cys341Arg)	DDX3X (C155R +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related disorder	GLikely pathogenic
Select item 3343830	NM_001356.5(DDX3X):c.1211C>A (p.Ala404Asp)	DDX3X (A218D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3343813	NM_001356.5(DDX3X):c.1279_1282del (p.Lys427fs)	DDX3X (K241fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 3342382	NM_001356.5(DDX3X):c.1096G>T (p.Glu366Ter)	DDX3X (E180* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3342381	NM_001356.5(DDX3X):c.45+1G>A	DDX3X	Single nucleotide variant (splice donor variant)	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 3341302	NM_001356.5(DDX3X):c.641T>C (p.Ile214Thr)	DDX3X (I198T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3341045	NM_001356.5(DDX3X):c.922C>T (p.Gln308Ter)	DDX3X (Q122* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3340467	NM_001356.5(DDX3X):c.822_824delinsGA (p.Thr275fs)	DDX3X (T259fs +2 more)	Indel (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3339923	NM_001356.5(DDX3X):c.1315+7T>C	DDX3X	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339615	NM_001356.5(DDX3X):c.1026-7A>G	DDX3X	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339447	NM_001356.5(DDX3X):c.444-5T>G	DDX3X	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339165	NM_001356.5(DDX3X):c.284+8A>C	DDX3X	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338075	NM_001356.5(DDX3X):c.1105dup (p.Thr369fs)	DDX3X (T183fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3336878	NM_001356.5(DDX3X):c.338_339del (p.Arg113fs)	DDX3X (R113fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3336865	NM_001356.5(DDX3X):c.179G>A (p.Trp60Ter)	DDX3X (W44* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3271310	NM_001356.5(DDX3X):c.856G>C (p.Ala286Pro)	DDX3X (A100P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257855	NM_001356.5(DDX3X):c.43C>T (p.Gln15Ter)	DDX3X (Q15*)	Single nucleotide variant (nonsense +2 more)	Neoplasm	OUncertain significance
Select item 3254978	NM_001356.5(DDX3X):c.392C>G (p.Ser131Ter)	DDX3X (S115* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3254976	NM_001356.5(DDX3X):c.632_634delinsA (p.Ile211fs)	DDX3X (I195fs +2 more)	Indel (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3254750	NM_001356.5(DDX3X):c.925C>T (p.Gln309Ter)	DDX3X (Q123* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3252725	NM_001356.5(DDX3X):c.103+2dup	DDX3X	Duplication (splice donor variant)	not provided	GPathogenic
Select item 3250826	NM_001356.5(DDX3X):c.1025+28T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3246452	NC_000023.10:g.(?_41201089)_(41203086_?)del	DDX3X	Deletion	not provided	GPathogenic
Select item 3245362	NC_000023.10:g.(?_41193506)_(41646556_?)dup	CASK, DDX3X +3 more	Duplication	Intellectual disability, CASK-related, X-linked	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3238808	NM_001356.5(DDX3X):c.1858A>C (p.Ser620Arg)	DDX3X (S433R +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 3237506	NM_001356.5(DDX3X):c.1734C>A (p.His578Gln)	DDX3X (H392Q +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3236094	NM_001356.5(DDX3X):c.45+1G>C	DDX3X	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3235802	NM_001356.5(DDX3X):c.1294C>T (p.Leu432Phe)	DDX3X (L246F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3233717	NM_001356.5(DDX3X):c.1315+17T>C	DDX3X	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3081012	NM_001356.5(DDX3X):c.1228_1247del (p.Ser410fs)	DDX3X (S410fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3067176	NM_001356.5(DDX3X):c.3G>T (p.Met1Ile)	DDX3X (M1I)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3064107	NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)	DDX3X (K266* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3064058	NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)	DDX3X (E164* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	Gnot provided
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062244	NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)	DDX3X (A136V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062159	NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)	DDX3X (L245R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062097	NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)	DDX3X (F301L +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062043	NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)	DDX3X (M193fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3059581	NM_001356.5(DDX3X):c.104-23TA[6]	DDX3X	Microsatellite (5 prime UTR variant +1 more)	DDX3X-related disorder	GBenign
Select item 3054208	NM_001356.5(DDX3X):c.1051C>T (p.Arg351Trp)	DDX3X (R165W +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related disorder	GUncertain significance
Select item 3043830	NM_001356.5(DDX3X):c.655G>C (p.Asp219His)	DDX3X (D203H +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related disorder	GUncertain significance
Select item 3036845	NM_001356.5(DDX3X):c.1747A>G (p.Ser583Gly)	DDX3X (S397G +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related disorder	GUncertain significance
Select item 3033261	NM_001356.5(DDX3X):c.104-23TA[8]	DDX3X	Microsatellite (5 prime UTR variant +1 more)	DDX3X-related disorder	GLikely benign
Select item 3032979	NM_001356.5(DDX3X):c.1157C>A (p.Pro386His)	DDX3X (P200H +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related disorder	GLikely pathogenic
Select item 3029968	NM_001356.5(DDX3X):c.1315+8_1315+10del	DDX3X	Deletion (intron variant)	DDX3X-related disorder	GLikely benign
Select item 3026972	NM_001356.5(DDX3X):c.1025+34G>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3026971	NM_001356.5(DDX3X):c.721C>A (p.Gln241Lys)	DDX3X (Q225K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024277	NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)	DDX3X (Y280* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 3018271	NM_001356.5(DDX3X):c.1931A>G (p.Asn644Ser)	DDX3X (N644S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010426	NM_001356.5(DDX3X):c.46-7C>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3010177	NM_001356.5(DDX3X):c.1171-16A>T	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006491	NM_001356.5(DDX3X):c.1170+9T>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006102	NM_001356.5(DDX3X):c.1134T>C (p.Thr378=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005773	NM_001356.5(DDX3X):c.1171-17A>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002730	NM_001356.5(DDX3X):c.766-13_766-9del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 3002487	NM_001356.5(DDX3X):c.1569A>G (p.Glu523=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001378	NM_001356.5(DDX3X):c.525T>C (p.Cys175=)	DDX3X	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2998861	NM_001356.5(DDX3X):c.765+4G>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996899	NM_001356.5(DDX3X):c.680-17T>C	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995160	NM_001356.5(DDX3X):c.284+9T>A	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995047	NM_001356.5(DDX3X):c.45+9C>G	DDX3X	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2992394	NM_001356.5(DDX3X):c.679+18_679+23del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 2988939	NM_001356.5(DDX3X):c.444-9del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 2986724	NM_001356.5(DDX3X):c.1872C>T (p.Gly624=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985822	NM_001356.5(DDX3X):c.1535A>G (p.His512Arg)	DDX3X (H326R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983962	NM_001356.5(DDX3X):c.1770-8del	DDX3X	Deletion (intron variant)	not provided	GBenign
Select item 2983262	NM_001356.5(DDX3X):c.1616-20T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979738	NM_001356.5(DDX3X):c.1769+17A>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978874	NM_001356.5(DDX3X):c.1782T>C (p.Ser594=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978725	NM_001356.5(DDX3X):c.1315+23_1315+27del	DDX3X	Microsatellite (intron variant)	not provided	GBenign
Select item 2973715	NM_001356.5(DDX3X):c.1616-15T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970304	NM_001356.5(DDX3X):c.1781G>A (p.Ser594Asn)	DDX3X (S407N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969008	NM_001356.5(DDX3X):c.679+12T>G	DDX3X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2966226	NM_001356.5(DDX3X):c.1171-17_1171-16del	DDX3X	Deletion (intron variant)	not provided	GBenign

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