2557[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 2657858	NC_000007.14:g.101606361G>A	CUX1	Single nucleotide variant	not provided	GLikely benign
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 752193	NM_001913.5(CUX1):c.12T>C (p.Asn4=)	CUX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344186	NM_001913.5(CUX1):c.16G>A (p.Gly6Arg)	CUX1 (G6R)	Single nucleotide variant (missense variant)	CUX1-related disorder	GUncertain significance
Select item 2361302	NM_001913.5(CUX1):c.38A>G (p.Lys13Arg)	CUX1 (K13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2228985	NM_001913.5(CUX1):c.63+3C>T	CUX1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3367276	NM_181552.4(CUX1):c.24G>T (p.Arg8Ser)	CUX1 (R8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695434	NM_181552.4(CUX1):c.53C>T (p.Thr18Met)	CUX1 (T18M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704521	NM_181552.4(CUX1):c.97C>T (p.Arg33Trp)	CUX1 (R33W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3368540	NM_181552.4(CUX1):c.123C>G (p.Phe41Leu)	CUX1 (F41L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2555097	NM_181552.4(CUX1):c.129G>C (p.Lys43Asn)	CUX1 (K54N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060457	NM_181552.4(CUX1):c.141+8G>A	CUX1	Single nucleotide variant (intron variant)	CUX1-related disorder	GBenign
Select item 3079037	NM_181552.4(CUX1):c.161C>G (p.Ala54Gly)	CUX1 (A28G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3341709	NM_181552.4(CUX1):c.162G>A (p.Ala54=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3371216	NM_181552.4(CUX1):c.164C>T (p.Pro55Leu)	CUX1 (P29L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1255424	NM_181552.4(CUX1):c.190-29T>C	CUX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 3343750	NM_181552.4(CUX1):c.190A>G (p.Ile64Val)	CUX1 (I38V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709065	NM_181552.4(CUX1):c.262G>A (p.Val88Ile)	CUX1 (V62I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 985488	NM_181552.4(CUX1):c.268+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
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 1255426	NM_181552.4(CUX1):c.269-34C>A	CUX1, LOC126860126	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3270349	NM_181552.4(CUX1):c.269-2A>C	CUX1, LOC126860126	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3367592	NM_181552.4(CUX1):c.283T>A (p.Leu95Met)	LOC126860126, CUX1 (L106M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1696179	NM_181552.4(CUX1):c.358G>A (p.Glu120Lys)	CUX1, LOC126860126 (E115K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335682	NM_181552.4(CUX1):c.394G>A (p.Val132Met)	LOC126860126, CUX1 (V106M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 715004	NM_181552.4(CUX1):c.414G>A (p.Thr138=)	CUX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657859	NM_181552.4(CUX1):c.429A>G (p.Lys143=)	CUX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336228	NM_181552.4(CUX1):c.443A>C (p.Glu148Ala)	CUX1 (E113A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631114	NM_181552.4(CUX1):c.454A>G (p.Thr152Ala)	CUX1 (T117A +4 more)	Single nucleotide variant (missense variant)	CUX1-related disorder	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 2637088	NM_181552.4(CUX1):c.461A>C (p.Lys154Thr)	CUX1 (K119T +4 more)	Single nucleotide variant (missense variant)	CUX1-related disorder	GUncertain significance
Select item 2517971	NM_181552.4(CUX1):c.479T>C (p.Ile160Thr)	CUX1 (I134T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2330338	NM_181552.4(CUX1):c.482C>A (p.Ala161Asp)	CUX1 (A156D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079052	NM_181552.4(CUX1):c.484C>T (p.Leu162Phe)	CUX1 (L162F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3029109	NM_181552.4(CUX1):c.496C>G (p.Gln166Glu)	CUX1 (Q131E +4 more)	Single nucleotide variant (missense variant)	CUX1-related disorder	GUncertain significance
Select item 2314714	NM_181552.4(CUX1):c.498G>T (p.Gln166His)	CUX1 (Q131H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371528	NM_181552.4(CUX1):c.508A>G (p.Asn170Asp)	CUX1 (N135D +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 3367440	NM_181552.4(CUX1):c.541G>C (p.Glu181Gln)	CUX1 (E146Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523664	NM_181552.4(CUX1):c.550A>G (p.Met184Val)	CUX1 (M158V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657860	NM_181552.4(CUX1):c.551T>G (p.Met184Arg)	CUX1 (M149R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400500	NM_181552.4(CUX1):c.577G>A (p.Ala193Thr)	CUX1 (A158T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343456	NM_181552.4(CUX1):c.605C>T (p.Thr202Ile)	CUX1 (T167I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 778330	NM_181552.4(CUX1):c.623G>A (p.Arg208Gln)	CUX1 (R173Q +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1299083	NM_181552.4(CUX1):c.654C>T (p.Tyr218=)	CUX1	Single nucleotide variant (synonymous variant)	not provided	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 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 3079053	NM_181552.4(CUX1):c.676G>A (p.Ala226Thr)	CUX1 (A200T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3024404	NM_181552.4(CUX1):c.691A>G (p.Met231Val)	CUX1 (M196V +4 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 2631296	NM_181552.4(CUX1):c.721C>A (p.Gln241Lys)	CUX1 (Q206K +4 more)	Single nucleotide variant (missense variant)	CUX1-related disorder	GUncertain significance
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 3250726	NM_181552.4(CUX1):c.776C>T (p.Ser259Leu)	CUX1 (S224L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050956	NM_181552.4(CUX1):c.777G>A (p.Ser259=)	CUX1	Single nucleotide variant (synonymous variant)	CUX1-related disorder	GLikely benign
Select item 2571289	NM_181552.4(CUX1):c.825C>T (p.Asp275=)	CUX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517260	NM_181552.4(CUX1):c.826G>A (p.Val276Met)	CUX1 (V241M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2211884	NM_181552.4(CUX1):c.880G>A (p.Ala294Thr)	CUX1 (A289T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079055	NM_181552.4(CUX1):c.937C>T (p.Leu313Phe)	CUX1 (L278F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 836163	NM_181552.4(CUX1):c.941C>T (p.Thr314Ile)	CUX1 (T323I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 727835	NM_181552.4(CUX1):c.960G>A (p.Ser320=)	CUX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3051364	NM_181552.4(CUX1):c.1076+9G>A	CUX1	Single nucleotide variant (intron variant)	CUX1-related disorder	GLikely benign
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 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 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 2535327	NM_181552.4(CUX1):c.1156C>A (p.Leu386Met)	CUX1 (L358M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 3234773	NM_181552.4(CUX1):c.1283C>T (p.Ala428Val)	CUX1 (A428V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2657861	NM_181552.4(CUX1):c.1288C>G (p.Pro430Ala)	CUX1 (P430A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1335683	NM_181552.4(CUX1):c.1290T>A (p.Pro430=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3270347	NM_181552.4(CUX1):c.1297C>T (p.Gln433Ter)	CUX1 (Q444* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2673121	NM_181552.4(CUX1):c.1314G>C (p.Pro438=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1806742	NM_181552.4(CUX1):c.1314_1327del (p.Gly439fs)	CUX1 (G439fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2572935	NM_181552.4(CUX1):c.1318G>T (p.Glu440Ter)	CUX1 (E440* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2537017	NM_181552.4(CUX1):c.1319A>C (p.Glu440Ala)	CUX1 (E451A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1686612	NM_181552.4(CUX1):c.1361C>T (p.Ala454Val)	CUX1 (A454V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2657862	NM_181552.4(CUX1):c.1405A>G (p.Ser469Gly)	CUX1 (S469G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3048806	NM_181552.4(CUX1):c.1455G>A (p.Gln485=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	CUX1-related disorder	GLikely benign
Select item 3369462	NM_181552.4(CUX1):c.1469A>G (p.Gln490Arg)	CUX1 (Q490R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2614125	NM_181552.4(CUX1):c.1491G>A (p.Met497Ile)	CUX1 (M508I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 2574478	NM_181552.4(CUX1):c.1538G>T (p.Ser513Ile)	CUX1 (S513I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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