ClinVar for Gene (Select 1523) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345325	NM_001913.5(CUX1):c.1398C>A (p.His466Gln)	CUX1 (H420Q +4 more)	Single nucleotide variant (missense variant)	CUX1-related disorder	GUncertain significance
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 3343817	NM_181552.4(CUX1):c.3446T>G (p.Phe1149Cys)	CUX1 (F1149C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3343620	NM_181552.4(CUX1):c.1627G>C (p.Gly543Arg)	CUX1 (G543R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3343034	NM_181552.4(CUX1):c.2803T>C (p.Tyr935His)	CUX1 (Y935H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342149	NM_181552.4(CUX1):c.3075C>G (p.Val1025=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3339878	NM_181552.4(CUX1):c.2705G>A (p.Arg902His)	CUX1 (R902H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339521	NM_181552.4(CUX1):c.3622+6T>A	CUX1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 3270350	NM_181552.4(CUX1):c.4204C>G (p.Leu1402Val)	CUX1 (L1413V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 3270348	NM_181552.4(CUX1):c.4177G>A (p.Gly1393Arg)	CUX1 (G1404R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3270346	NM_181552.4(CUX1):c.4250C>T (p.Pro1417Leu)	CUX1 (P1417L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270345	NM_181552.4(CUX1):c.4318C>T (p.Pro1440Ser)	CUX1 (P1451S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257575	GRCh37/hg19 7q22.1(chr7:101639800-101926382)x1	CUX1	Copy number loss	not provided	GPathogenic
Select item 3257090	NM_181552.4(CUX1):c.4374C>T (p.Ser1458=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257083	NM_001913.5(CUX1):c.1738G>A (p.Asp580Asn)	CUX1 (D534N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3252381	NM_181552.4(CUX1):c.2039G>A (p.Arg680Lys)	CUX1 (R680K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250783	NM_181552.4(CUX1):c.1755C>T (p.Ser585=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 3239570	NM_181552.4(CUX1):c.4139C>T (p.Thr1380Ile)	CUX1 (T1380I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239414	NM_181552.4(CUX1):c.3170_3171del (p.Pro1057fs)	CUX1 (P1057fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3234833	NM_181552.4(CUX1):c.4228_4229delinsAA (p.Ala1410Asn)	CUX1 (A1410N +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
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 3234467	NM_181552.4(CUX1):c.1594A>G (p.Met532Val)	CUX1 (M532V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234444	NM_001913.5(CUX1):c.1762C>T (p.Arg588Trp)	CUX1 (R542W +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 3079051	NM_181552.4(CUX1):c.4486A>C (p.Ser1496Arg)	CUX1 (S1496R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079050	NM_181552.4(CUX1):c.4400G>A (p.Gly1467Asp)	CUX1 (G1478D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079049	NM_181552.4(CUX1):c.4351C>G (p.Arg1451Gly)	CUX1 (R1451G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079048	NM_181552.4(CUX1):c.4304C>G (p.Pro1435Arg)	CUX1 (P1435R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3079047	NM_181552.4(CUX1):c.4076G>C (p.Gly1359Ala)	CUX1 (G1359A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079046	NM_181552.4(CUX1):c.3641A>G (p.His1214Arg)	CUX1 (H1225R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079045	NM_181552.4(CUX1):c.3181A>G (p.Met1061Val)	CUX1 (M1061V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079044	NM_181552.4(CUX1):c.3049G>A (p.Val1017Ile)	CUX1 (V1028I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079043	NM_181552.4(CUX1):c.3044T>C (p.Leu1015Pro)	CUX1 (L1015P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079042	NM_181552.4(CUX1):c.2566G>A (p.Gly856Ser)	CUX1 (G856S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079041	NM_181552.4(CUX1):c.2447G>A (p.Arg816His)	CUX1 (R816H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079039	NM_181552.4(CUX1):c.2119C>G (p.Arg707Gly)	CUX1 (R707G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079038	NM_181552.4(CUX1):c.2054A>T (p.Gln685Leu)	CUX1 (Q696L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3067549	NM_181552.4(CUX1):c.2229C>G (p.Pro743=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 3062172	NM_181552.4(CUX1):c.3725_3730del (p.His1242_Gln1243del)	CUX1	Deletion (inframe_deletion +1 more)	See cases	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 3058439	NM_181552.4(CUX1):c.1644C>T (p.Gly548=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	CUX1-related disorder	GLikely benign
Select item 3057472	NM_001913.5(CUX1):c.1564-4C>G	CUX1	Single nucleotide variant (intron variant)	CUX1-related disorder	GLikely benign
Select item 3051364	NM_181552.4(CUX1):c.1076+9G>A	CUX1	Single nucleotide variant (intron variant)	CUX1-related disorder	GLikely benign
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 3050616	NM_001913.5(CUX1):c.1626C>T (p.Ala542=)	CUX1	Single nucleotide variant (synonymous variant)	CUX1-related disorder	GLikely benign
Select item 3050219	NM_001913.5(CUX1):c.1407G>A (p.Glu469=)	CUX1	Single nucleotide variant (synonymous variant)	CUX1-related disorder	GLikely benign
Select item 3049767	NM_001913.5(CUX1):c.1476C>G (p.Ala492=)	CUX1	Single nucleotide variant (synonymous variant)	CUX1-related disorder	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 3048301	NM_001913.5(CUX1):c.1732C>T (p.Arg578Cys)	CUX1 (R532C +4 more)	Single nucleotide variant (missense variant)	CUX1-related disorder	GLikely benign
Select item 3046134	NM_001913.5(CUX1):c.1564-3dup	CUX1	Duplication (intron variant)	CUX1-related disorder	GLikely benign
Select item 3044690	NM_181552.4(CUX1):c.4110G>A (p.Ala1370=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	CUX1-related disorder	GLikely benign
Select item 3043726	NM_181552.4(CUX1):c.2745G>A (p.Pro915=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	CUX1-related disorder	GLikely benign
Select item 3041850	NM_181552.4(CUX1):c.2565_2573dup (p.Gly859_Gly860insSerGlyGly)	CUX1	Duplication (intron variant)	CUX1-related disorder	GBenign
Select item 3040558	NM_001913.5(CUX1):c.1917G>A (p.Leu639=)	CUX1	Single nucleotide variant (synonymous variant)	CUX1-related disorder	GLikely benign
Select item 3039618	NM_181552.4(CUX1):c.2148G>A (p.Glu716=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	CUX1-related disorder	GBenign
Select item 3036206	NM_181552.4(CUX1):c.2549A>G (p.Lys850Arg)	CUX1 (K850R +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 3026930	NM_181552.4(CUX1):c.2752C>G (p.Pro918Ala)	CUX1 (P918A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026500	NM_181552.4(CUX1):c.4185C>A (p.Pro1395=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026176	NM_181552.4(CUX1):c.4352G>T (p.Arg1451Leu)	CUX1 (R1451L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026143	NM_181552.4(CUX1):c.2569A>G (p.Ser857Gly)	CUX1 (S857G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025840	NM_181552.4(CUX1):c.2715A>C (p.Thr905=)	CUX1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 2685258	GRCh37/hg19 7q22.1(chr7:101653706-101872313)x1	CUX1	Copy number loss	not provided	GUncertain significance
Select item 2685257	GRCh37/hg19 7q22.1(chr7:101652458-101761929)x1	CUX1	Copy number loss	not provided	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684498	GRCh37/hg19 7q22.1(chr7:100872231-101464440)x3	CLDN15, COL26A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2682211	NM_181552.4(CUX1):c.1632C>G (p.Ser544Arg)	CUX1 (S544R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2674591	NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)	CUX1 (I1274V +1 more)	Single nucleotide variant (missense variant +1 more)	Myeloproliferative neoplasm +1 more	GUncertain significance
Select item 2673122	NM_181552.4(CUX1):c.3092C>T (p.Ser1031Leu)	CUX1 (S1031L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2663640	NM_181552.4(CUX1):c.4381G>C (p.Gly1461Arg)	CUX1 (G1461R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662603	NM_181552.4(CUX1):c.3169C>T (p.Pro1057Ser)	CUX1 (P1057S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661981	NM_181552.4(CUX1):c.2995T>A (p.Phe999Ile)	CUX1 (F1010I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661935	NM_181552.4(CUX1):c.2879G>T (p.Gly960Val)	CUX1 (G960V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2657884	NM_001913.5(CUX1):c.1709G>A (p.Arg570Gln)	CUX1 (R524Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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