"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 977603	NM_001913.5(CUX1):c.63+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Global developmental delay with or without impaired intellectual development +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 24