ClinVar for MedGen (Select 1715418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2663878	NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)	DDX3X (Q204* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	Gnot provided
Select item 2663764	NM_001356.5(DDX3X):c.1045G>A (p.Ala349Thr)	DDX3X (A163T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2627924	NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)	DDX3X (I179T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2580937	NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)	DDX3X (A216fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 2579274	GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1	CASK, DDX3X +19 more	Copy number loss	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 2573016	NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)	DDX3X (Q231R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2572975	NM_001356.5(DDX3X):c.1466C>G (p.Ser489Ter)	DDX3X (S303* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2572499	NM_001356.5(DDX3X):c.887G>A (p.Arg296His)	DDX3X (R110H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2572467	NM_001356.5(DDX3X):c.1177G>C (p.Ala393Pro)	DDX3X (A207P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2572273	NM_001356.5(DDX3X):c.1155del (p.Pro386fs)	DDX3X (P200fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2500019	NM_001356.5(DDX3X):c.1329G>T (p.Leu443=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 2499618	NM_001356.5(DDX3X):c.864+2T>G	DDX3X	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 2441916	NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)	DDX3X (T12fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 2440726	NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)	DDX3X	Duplication (inframe_insertion +2 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 2429833	NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)	DDX3X (W111* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 2105524	NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)	DDX3X (S574N +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2097708	NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)	DDX3X	Deletion (inframe_deletion +1 more)	Intellectual disability, X-linked 102 +1 more	GConflicting classifications of pathogenicity
Select item 1992336	NM_001356.5(DDX3X):c.828dup (p.Glu277fs)	DDX3X (E261fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1913486	NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)	DDX3X (F69del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided +1 more	GUncertain significance
Select item 1878563	NM_001356.5(DDX3X):c.1460T>C (p.Phe487Ser)	DDX3X (F301S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 1805569	NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)	DDX3X (D61fs +1 more)	Duplication (frameshift variant +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1802581	NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)	DDX3X (R294fs +2 more)	Insertion (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1802175	NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)	DDX3X (P40L)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1801356	NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)	DDX3X (V324M +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 1722373	NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)	DDX3X (N158fs +1 more)	Microsatellite (frameshift variant +2 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1711151	NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)	DDX3X (Q379H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1709134	NM_001356.5(DDX3X):c.1922G>A (p.Gly641Asp)	DDX3X (G454D +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 1706539	NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)	DDX3X (V310G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1705588	NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)	DDX3X (N228fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1703241	NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)	DDX3X (C112* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1703239	NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)	DDX3X (Y14C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1698985	NM_001356.5(DDX3X):c.1315+1G>A	DDX3X	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1695343	NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter)	DDX3X (S62* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 1693000	NM_001356.5(DDX3X):c.42G>C (p.Gln14His)	DDX3X (Q14H)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 102	GBenign
Select item 1691554	NM_017934.7(PHIP):c.499A>G (p.Thr167Ala)	PHIP (T167A)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GUncertain significance
Select item 1687528	NM_001356.5(DDX3X):c.765+2T>G	DDX3X	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1687331	NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter)	DDX3X (C159* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1685691	NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs)	DDX3X (V236fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1679537	NM_001356.5(DDX3X):c.1171-2A>G	DDX3X	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 102	GPathogenic
Select item 1543705	NM_001356.5(DDX3X):c.1171-8dup	DDX3X	Duplication (intron variant)	Intellectual disability, X-linked 102 +1 more	GBenign/Likely benign
Select item 1452148	NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter)	DDX3X (Q281* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 1342895	NM_001356.5(DDX3X):c.103+6T>G	DDX3X	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1342019	NM_001356.5(DDX3X):c.443+3A>T	DDX3X	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 102	Gnot provided
Select item 1342018	NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser)	DDX3X (P382S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	Gnot provided
Select item 1342017	NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser)	DDX3X (A281S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	Gnot provided
Select item 1342016	NM_001356.5(DDX3X):c.898G>T (p.Val300Phe)	DDX3X (V114F +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	Gnot provided
Select item 1341528	NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)	DDX3X (H286R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +1 more	GLikely pathogenic
Select item 1330240	NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro)	DDX3X (R302P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1325856	NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)	DDX3X (Y53* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1325823	NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter)	DDX3X (Q379* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 1324218	NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu)	DDX3X (Q231E +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1322195	NM_001356.5(DDX3X):c.930dup (p.Arg311fs)	DDX3X (R125fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1322194	NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter)	DDX3X (S239* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1322193	NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs)	DDX3X (K232fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 1320227	NM_001356.5(DDX3X):c.1025+1G>A	DDX3X	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 102	GPathogenic
Select item 1319946	NM_001356.5(DDX3X):c.152-1G>A	DDX3X	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1302008	NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)	DDX3X (S24*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1285566	NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro)	DDX3X (L392P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1285558	NM_001356.5(DDX3X):c.1443dup (p.Glu482fs)	DDX3X (E296fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 1251939	NM_001356.5(DDX3X):c.1171-2A>C	DDX3X	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1196594	NM_001356.5(DDX3X):c.453_454del (p.Ser152fs)	DDX3X (S136fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 1188775	NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly)	DDX3X (W235G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +1 more	GConflicting classifications of pathogenicity
Select item 1164038	NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu)	DDX3X (S357L +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1065475	NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val)	DDX3X (D288V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 1033779	NM_001356.5(DDX3X):c.824C>T (p.Thr275Met)	DDX3X (T89M +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 1033778	NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)	DDX3X (F166V +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1031222	NM_001356.5(DDX3X):c.846C>A (p.Ile282=)	DDX3X	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 102 +1 more	GConflicting classifications of pathogenicity
Select item 1012292	NM_001356.5(DDX3X):c.544-8_544-6del	DDX3X	Deletion (intron variant)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1012216	NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)	DDX3X (V327L +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +1 more	GLikely pathogenic
Select item 992632	NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter)	DDX3X (Y390* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 989448	NM_001356.5(DDX3X):c.828_831del (p.Arg276fs)	DDX3X (R260fs +2 more)	Microsatellite (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 988754	NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)	DDX3X (Y339C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 987883	NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro)	DDX3X (L249P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 981252	NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)	DDX3X (R125* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GPathogenic
Select item 981251	NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile)	DDX3X (V327I +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +2 more	GUncertain significance
Select item 978389	NM_001356.5(DDX3X):c.454dup (p.Ser152fs)	DDX3X (S136fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 977888	NM_001356.5(DDX3X):c.596G>A (p.Arg199His)	DDX3X (R13H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 977630	NM_001356.5(DDX3X):c.865-2A>G	DDX3X	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 976690	NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter)	DDX3X (Y244* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 976421	NM_001356.5(DDX3X):c.1454A>C (p.His485Pro)	DDX3X (H299P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +1 more	GConflicting classifications of pathogenicity
Select item 976374	NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser)	DDX3X (T215S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 975950	NM_001356.5(DDX3X):c.122C>A (p.Pro41His)	DDX3X (P41H)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 975674	NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)	DDX3X (Q209R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 975673	NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)	DDX3X (D203fs +2 more)	Deletion (frameshift variant +1 more)	DDX3X-related condition	GLikely pathogenic
Select item 975672	NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)	DDX3X (A297D +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 932105	NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp)	DDX3X (A100D +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GUncertain significance
Select item 931377	NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)	DDX3X (K215* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 930875	NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)	DDX3X (Y339* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 872861	NM_001356.5(DDX3X):c.641_643del (p.Ile214del)	DDX3X (I198del +2 more)	Deletion (inframe_deletion +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 872860	NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer)	DDX3X	Indel (missense variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 872859	NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu)	DDX3X (G504E +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 872857	NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)	DDX3X (R376H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 807403	NM_001356.5(DDX3X):c.1316-2A>G	DDX3X	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 102	GPathogenic

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