ClinVar for MedGen (Select 1675328) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393423	NM_181552.4(CUX1):c.1696A>T (p.Lys566Ter)	CUX1 (K566* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 3391239	NM_001913.5(CUX1):c.1621C>T (p.Arg541Cys)	CUX1 (R495C +4 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3383030	NM_181552.4(CUX1):c.4294_4308dup (p.Ser1436_Ser1437insProAlaAlaProSer)	CUX1	Duplication (inframe_insertion +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3382169	NM_181552.4(CUX1):c.3201del (p.Lys1068fs)	CUX1 (K1068fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 3377149	NM_001913.5(CUX1):c.1902+1G>T	CUX1	Single nucleotide variant (splice donor variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3367099	NM_181552.4(CUX1):c.3745G>A (p.Val1249Met)	CUX1 (V1249M +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3367050	NM_181552.4(CUX1):c.2710G>A (p.Glu904Lys)	CUX1 (E904K +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3366947	NM_181552.4(CUX1):c.1289dup (p.Pro431fs)	CUX1 (P431fs +1 more)	Duplication (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 3362727	NM_181552.4(CUX1):c.286G>C (p.Asp96His)	CUX1, LOC126860126 (D107H +3 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3359058	NM_001913.5(CUX1):c.1451-2A>G	CUX1	Single nucleotide variant (splice acceptor variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 3338576	NM_181552.4(CUX1):c.1042C>T (p.Gln348Ter)	CUX1 (Q313* +5 more)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 3254975	NM_001913.5(CUX1):c.1681-1G>C	CUX1	Single nucleotide variant (splice acceptor variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3254744	NM_181552.4(CUX1):c.2053C>T (p.Gln685Ter)	CUX1 (Q685* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 3242153	NM_181552.4(CUX1):c.1348C>A (p.Gln450Lys)	CUX1 (Q450K +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3065713	NM_181552.4(CUX1):c.2029C>G (p.Gln677Glu)	CUX1 (Q677E +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3065650	NM_181552.4(CUX1):c.536T>C (p.Leu179Pro)	CUX1 (L144P +4 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 3064368	NM_181552.4(CUX1):c.2103C>G (p.Asn701Lys)	CUX1 (N701K +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GLikely benign
Select item 3027451	NM_001913.5(CUX1):c.1782C>A (p.Tyr594Ter)	CUX1 (Y548* +4 more)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 2692554	NM_181552.4(CUX1):c.3815_3884dup (p.Tyr1295Ter)	CUX1 (Y1295* +1 more)	Duplication (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 2691892	NM_181552.4(CUX1):c.3556C>T (p.Gln1186Ter)	CUX1 (Q1186* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 2688901	NM_181552.4(CUX1):c.3974G>C (p.Arg1325Pro)	CUX1 (R1325P +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2664191	NM_181552.4(CUX1):c.2631G>C (p.Glu877Asp)	CUX1 (E877D +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2585210	NM_181552.4(CUX1):c.1145A>G (p.Glu382Gly)	CUX1 (E347G +5 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2442227	NM_181552.4(CUX1):c.1108G>C (p.Glu370Gln)	CUX1 (E335Q +5 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440642	NM_181552.4(CUX1):c.3277A>G (p.Ser1093Gly)	CUX1 (S1093G +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440641	NM_181552.4(CUX1):c.4127C>T (p.Pro1376Leu)	CUX1 (P1376L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440640	NM_181552.4(CUX1):c.1580C>T (p.Pro527Leu)	CUX1 (P527L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440639	NM_181552.4(CUX1):c.1261C>T (p.Arg421Trp)	CUX1 (R421W +1 more)	Single nucleotide variant (intron variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440638	NM_181552.4(CUX1):c.3371C>T (p.Pro1124Leu)	CUX1 (P1124L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440637	NM_181552.4(CUX1):c.4336A>G (p.Ser1446Gly)	CUX1 (S1446G +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440636	NM_181552.4(CUX1):c.3989C>T (p.Ala1330Val)	CUX1 (A1330V +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440634	NM_181552.4(CUX1):c.3949G>A (p.Gly1317Ser)	CUX1 (G1317S +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440633	NM_181552.4(CUX1):c.4156_4157delinsCT (p.Ala1386Leu)	CUX1 (A1386L +1 more)	Indel (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440632	NM_181552.4(CUX1):c.1641G>T (p.Glu547Asp)	CUX1 (E547D +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440631	NM_181552.4(CUX1):c.2401G>A (p.Asp801Asn)	CUX1 (D801N +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2431475	NM_181552.4(CUX1):c.457C>G (p.Leu153Val)	CUX1 (L118V +4 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2343376	NM_181552.4(CUX1):c.4298C>G (p.Ala1433Gly)	CUX1 (A1433G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2230154	NM_001913.5(CUX1):c.1671C>A (p.Tyr557Ter)	CUX1 (Y511* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1992380	NM_181552.4(CUX1):c.2925G>C (p.Gln975His)	CUX1 (Q975H +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1805954	NM_181552.4(CUX1):c.875T>A (p.Leu292Ter)	CUX1 (L257* +5 more)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1804166	t(7;10)(q22.1;q26.3)	CUX1, LOC126860127 +1 more	Translocation	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1803944	NM_181552.4(CUX1):c.2869del (p.Ala957fs)	CUX1 (A957fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1803943	NM_181552.4(CUX1):c.2806G>A (p.Glu936Lys)	CUX1 (E936K +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1803942	NM_181552.4(CUX1):c.1593del (p.Met532fs)	CUX1 (M532fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1803941	NM_181552.4(CUX1):c.1058del (p.Glu353fs)	CUX1 (E318fs +5 more)	Deletion (frameshift variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1803940	NM_181552.4(CUX1):c.952G>T (p.Glu318Ter)	CUX1 (E283* +5 more)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1803939	NM_181552.4(CUX1):c.762G>C (p.Arg254Ser)	CUX1 (R219S +4 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1803938	NM_181552.4(CUX1):c.538C>T (p.Gln180Ter)	CUX1 (Q145* +4 more)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1803937	NM_181552.4(CUX1):c.4407_4415del (p.Ser1471_Asp1473del)	CUX1	Deletion (inframe_deletion +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1803936	NM_181552.4(CUX1):c.4288dup (p.Glu1430fs)	CUX1 (E1430fs +1 more)	Duplication (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1803935	NM_181552.4(CUX1):c.4031C>T (p.Thr1344Ile)	CUX1 (T1344I +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1803934	NM_181552.4(CUX1):c.3786del (p.Tyr1263fs)	CUX1 (Y1263fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1803933	NM_181552.4(CUX1):c.3601A>T (p.Met1201Leu)	CUX1 (M1201L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1803932	NM_181552.4(CUX1):c.3563G>A (p.Trp1188Ter)	CUX1 (W1188* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1803931	NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs)	CUX1 (R1167fs +1 more)	Microsatellite (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1803930	NM_181552.4(CUX1):c.190-2A>G	CUX1	Single nucleotide variant (splice acceptor variant)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1710422	NM_001913.5(CUX1):c.1813dup (p.Leu605fs)	CUX1 (L559fs +4 more)	Duplication (frameshift variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1710283	NM_001913.5(CUX1):c.1563+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Global developmental delay with or without impaired intellectual development	GLikely benign
Select item 1710010	NM_020791.4(TAOK1):c.2563del (p.Ala855fs)	TAOK1 (A707fs +1 more)	Deletion (frameshift variant)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1701695	NM_181552.4(CUX1):c.1981C>T (p.Arg661Ter)	CUX1 (R661* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1696485	NM_001913.5(CUX1):c.1627G>A (p.Asp543Asn)	CUX1 (D497N +4 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1690336	NM_181552.4(CUX1):c.2986C>T (p.Arg996Ter)	CUX1 (R1007* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1676323	NM_001913.5(CUX1):c.1681-1G>A	CUX1	Single nucleotide variant (splice acceptor variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1341854	NM_181552.4(CUX1):c.4345G>A (p.Ala1449Thr)	CUX1 (A1449T +1 more)	Single nucleotide variant (intron variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1333819	NM_181552.4(CUX1):c.2687G>T (p.Ser896Ile)	CUX1 (S896I +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1324196	NM_181552.4(CUX1):c.530+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 1255433	NM_001913.5(CUX1):c.1681-12dup	CUX1	Duplication (intron variant)	Global developmental delay with or without impaired intellectual development	GBenign
Select item 1255432	NM_001913.5(CUX1):c.1390G>A (p.Ala464Thr)	CUX1 (A418T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1255431	NM_181552.4(CUX1):c.2274A>G (p.Pro758=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	Global developmental delay with or without impaired intellectual development +1 more	GBenign
Select item 1255430	NM_181552.4(CUX1):c.1104G>A (p.Pro368=)	CUX1	Single nucleotide variant (synonymous variant)	Global developmental delay with or without impaired intellectual development +1 more	GBenign
Select item 1255429	NM_181552.4(CUX1):c.674+31G>A	CUX1	Single nucleotide variant (intron variant)	Global developmental delay with or without impaired intellectual development +1 more	GBenign
Select item 1255428	NM_181552.4(CUX1):c.674+11C>T	CUX1	Single nucleotide variant (intron variant)	Global developmental delay with or without impaired intellectual development +1 more	GBenign
Select item 1255427	NM_181552.4(CUX1):c.607+6A>G	CUX1	Single nucleotide variant (intron variant)	Global developmental delay with or without impaired intellectual development +1 more	GBenign
Select item 1255426	NM_181552.4(CUX1):c.269-34C>A	CUX1, LOC126860126	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255425	NM_181552.4(CUX1):c.269-38T>G	CUX1, LOC126860126	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255424	NM_181552.4(CUX1):c.190-29T>C	CUX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213753	NM_181552.4(CUX1):c.1834C>T (p.Gln612Ter)	CUX1 (Q612* +1 more)	Single nucleotide variant (intron variant +1 more)	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 1184417	NM_181552.4(CUX1):c.3685G>A (p.Gly1229Ser)	CUX1 (G1229S +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1064833	NM_181552.4(CUX1):c.1576del (p.Ser526fs)	CUX1 (S526fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1030297	NM_001913.5(CUX1):c.1825C>T (p.Arg609Cys)	CUX1 (R570C +4 more)	Single nucleotide variant (missense variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1027903	NM_181552.4(CUX1):c.3781C>T (p.Arg1261Ter)	CUX1 (R1272* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development +1 more	GConflicting classifications of pathogenicity
Select item 1027902	NM_181552.4(CUX1):c.275T>C (p.Val92Ala)	CUX1, LOC126860126 (V103A +3 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 1027901	NM_181552.4(CUX1):c.2570G>A (p.Ser857Asn)	CUX1 (S857N +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 977603	NM_001913.5(CUX1):c.63+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 873436	NM_001913.5(CUX1):c.1764+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 618995	NM_001913.5(CUX1):c.61C>T (p.Gln21Ter)	CUX1 (Q21*)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 618994	NC_000007.13:g.(101759560_?)_(?_101893297)del	CUX1	Deletion	Global developmental delay with or without impaired intellectual development	GPathogenic
Select item 618993	NM_181552.4(CUX1):c.3750_3751dup (p.Leu1251fs)	CUX1 (L1251fs +1 more)	Duplication (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 618992	NM_181552.4(CUX1):c.3164dup (p.Ala1056fs)	CUX1 (A1067fs +1 more)	Duplication (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development +1 more	GPathogenic/Likely pathogenic
Select item 618991	NM_181552.4(CUX1):c.2584C>T (p.Gln862Ter)	CUX1 (Q873* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 618990	NM_181552.4(CUX1):c.2365del (p.Gln789fs)	CUX1 (Q800fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic

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Items: 91