CUL4B[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149916	GRCh38/hg38 Xq24(chrX:120526664-120531454)x0	CUL4B	Copy number loss	See cases	GLikely pathogenic
Select item 388445	NM_001079872.2(CUL4B):c.*7G>A	CUL4B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1470334	NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)	CUL4B (Y715fs +3 more)	Duplication (frameshift variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2504793	NM_001079872.2(CUL4B):c.2677T>A (p.Tyr893Asn)	CUL4B (Y715N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 633520	NM_001079872.2(CUL4B):c.2668C>T (p.Gln890Ter)	CUL4B (Q908* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1794991	NM_001079872.2(CUL4B):c.2652T>C (p.Asp884=)	CUL4B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1299250	NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu)	CUL4B (D706E +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1344895	NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)	CUL4B (D706N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 373768	NM_001079872.2(CUL4B):c.2637_2638del (p.Asp879fs)	CUL4B (D879fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 506496	NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)	CUL4B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 434871	NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)	CUL4B (R896Q +3 more)	Single nucleotide variant (missense variant)	Pettigrew syndrome	GLikely pathogenic
Select item 2626970	NM_001079872.2(CUL4B):c.2607G>C (p.Lys869Asn)	CUL4B (K691N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661740	NM_001079872.2(CUL4B):c.2593-18A>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1222218	NM_001079872.2(CUL4B):c.2593-90G>A	CUL4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213151	NM_001079872.2(CUL4B):c.2593-221dup	CUL4B	Duplication (intron variant)	not provided	GLikely benign
Select item 1231177	NM_001079872.2(CUL4B):c.2592+149dup	CUL4B	Duplication (intron variant)	not provided	GBenign
Select item 2715651	NM_001079872.2(CUL4B):c.2592+3A>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2506462	NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)	CUL4B	Deletion (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 3364015	NM_001079872.2(CUL4B):c.2567A>T (p.Tyr856Phe)	CUL4B (Y678F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817034	NM_001079872.2(CUL4B):c.2536_2539del (p.Leu846fs)	CUL4B (L846fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 446244	NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn)	CUL4B (K859N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2157188	NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)	CUL4B (I658V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3364508	NM_001079872.2(CUL4B):c.2484_2487del (p.Arg828fs)	CUL4B (R650fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1686611	NM_001079872.2(CUL4B):c.2482A>G (p.Arg828Gly)	CUL4B (R650G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358208	NM_001079872.2(CUL4B):c.2440-6del	CUL4B	Deletion (intron variant)	CUL4B-related disorder	GLikely benign
Select item 2026159	NM_001079872.2(CUL4B):c.2439+11C>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1342100	NM_001079872.2(CUL4B):c.2439+2T>C	CUL4B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1806550	NM_001079872.2(CUL4B):c.2438C>T (p.Thr813Met)	CUL4B (T635M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346908	NM_001079872.2(CUL4B):c.2415C>A (p.Ile805=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 1222974	NM_001079872.2(CUL4B):c.2408T>G (p.Ile803Arg)	CUL4B (I625R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444279	NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)	CUL4B (R624W +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3256535	NM_001079872.2(CUL4B):c.2403del (p.Phe801fs)	CUL4B (F623fs +3 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2132785	NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)	CUL4B (K619I +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3356311	NM_001079872.2(CUL4B):c.2370C>T (p.Phe790=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 2637967	NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)	CUL4B (D608N +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3351511	NM_001079872.2(CUL4B):c.2352T>C (p.Ile784=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3344273	NM_001079872.2(CUL4B):c.2345A>G (p.Lys782Arg)	CUL4B (K604R +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 3354815	NM_001079872.2(CUL4B):c.2327C>T (p.Ala776Val)	CUL4B (A598V +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 2725563	NM_001079872.2(CUL4B):c.2322T>G (p.Val774=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 3051800	NM_001079872.2(CUL4B):c.2310C>G (p.Gly770=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 2576852	NM_001079872.2(CUL4B):c.2300T>C (p.Leu767Ser)	CUL4B (L589S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933010	NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1219876	NM_001079872.2(CUL4B):c.2267-248G>A	CUL4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234084	NM_001079872.2(CUL4B):c.2266+291A>T	CUL4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210478	NM_001079872.2(CUL4B):c.2266+245G>A	CUL4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214765	NM_001079872.2(CUL4B):c.2266+33C>G	CUL4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509941	NM_001079872.2(CUL4B):c.2266+4T>A	CUL4B	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1803957	NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)	CUL4B (E578* +3 more)	Duplication (nonsense)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 3362704	NM_001079872.2(CUL4B):c.2258C>T (p.Thr753Ile)	CUL4B (T575I +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 265671	NM_001079872.2(CUL4B):c.2189_2190del (p.Phe730fs)	CUL4B (F735fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1879772	NM_001079872.2(CUL4B):c.2176C>T (p.Gln726Ter)	CUL4B (Q548* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3031647	NM_001079872.2(CUL4B):c.2169G>A (p.Lys723=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 1599124	NM_001079872.2(CUL4B):c.2161-15T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 382561	NM_001079872.2(CUL4B):c.2161-15T>G	CUL4B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1215950	NM_001079872.2(CUL4B):c.2161-137C>T	CUL4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228683	NM_001079872.2(CUL4B):c.2160+127A>T	CUL4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2110511	NM_001079872.2(CUL4B):c.2160+8G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2580008	NM_001079872.2(CUL4B):c.2158G>A (p.Glu720Lys)	CUL4B (E542K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202879	NM_001079872.2(CUL4B):c.2158G>T (p.Glu720Ter)	CUL4B (E542* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987478	NM_001079872.2(CUL4B):c.2139_2140del (p.Leu714fs)	CUL4B (L536fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1312375	NM_001079872.2(CUL4B):c.2134T>C (p.Cys712Arg)	CUL4B (C534R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000037	NM_001079872.2(CUL4B):c.2118G>A (p.Gln706=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 3348981	NM_001079872.2(CUL4B):c.2106A>G (p.Lys702=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 1699504	NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)	CUL4B (H520Y +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3350881	NM_001079872.2(CUL4B):c.2085A>T (p.Leu695=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3353955	NM_001079872.2(CUL4B):c.2076A>G (p.Thr692=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 2198993	NM_001079872.2(CUL4B):c.2046+6A>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 3345837	NM_001079872.2(CUL4B):c.2042C>T (p.Pro681Leu)	CUL4B (P503L +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 521199	NM_001079872.2(CUL4B):c.2041C>A (p.Pro681Thr)	CUL4B (P699T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3349436	NM_001079872.2(CUL4B):c.2039C>T (p.Pro680Leu)	CUL4B (P502L +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 2141066	NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)	CUL4B (M675V +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 3031646	NM_001079872.2(CUL4B):c.2010G>A (p.Pro670=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3357139	NM_001079872.2(CUL4B):c.1989C>A (p.Ile663=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 719923	NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)	CUL4B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 817868	NM_001079872.2(CUL4B):c.1939dup (p.Tyr647fs)	CUL4B (Y647fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2662297	NM_001079872.2(CUL4B):c.1939-6_1939-3delinsA	CUL4B	Indel (intron variant)	not provided	GUncertain significance
Select item 2885218	NM_001079872.2(CUL4B):c.1939-4A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2760544	NM_001079872.2(CUL4B):c.1939-19T>C	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 1216432	NM_001079872.2(CUL4B):c.1938+136dup	CUL4B	Duplication (intron variant)	not provided	GLikely benign
Select item 423083	NM_001079872.2(CUL4B):c.1930T>C (p.Phe644Leu)	CUL4B (F662L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434870	NM_001079872.2(CUL4B):c.1869C>T (p.Phe623=)	CUL4B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 434872	NM_001079872.2(CUL4B):c.1859G>T (p.Gly620Val)	CUL4B (G638V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 194630	NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)	CUL4B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2827929	NM_001079872.2(CUL4B):c.1853-13A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2075635	NM_001079872.2(CUL4B):c.1853-19G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 1213549	NM_001079872.2(CUL4B):c.1853-37C>T	CUL4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678984	NM_001079872.2(CUL4B):c.1852+69C>T	CUL4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3349570	NM_001079872.2(CUL4B):c.1852+9C>G	CUL4B	Single nucleotide variant (intron variant)	CUL4B-related disorder	GLikely benign
Select item 3348625	NM_001079872.2(CUL4B):c.1852+4G>T	CUL4B	Single nucleotide variant (intron variant)	CUL4B-related disorder	GLikely benign
Select item 2440628	NM_001079872.2(CUL4B):c.1852+3A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 521673	NM_001079872.2(CUL4B):c.1852+1del	CUL4B	Deletion (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 208796	NM_001079872.2(CUL4B):c.1852+1G>T	CUL4B	Single nucleotide variant (splice donor variant)	CUL4B-related X-linked intellectual disability	GPathogenic
Select item 208657	NM_001079872.2(CUL4B):c.1852+1G>A	CUL4B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3352067	NM_001079872.2(CUL4B):c.1836G>C (p.Leu612=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 1687214	NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro)	CUL4B (L434P +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3054838	NM_001079872.2(CUL4B):c.1803G>A (p.Lys601=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3054156	NM_001079872.2(CUL4B):c.1800A>G (p.Gly600=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 2574328	NM_001079872.2(CUL4B):c.1798G>A (p.Gly600Arg)	CUL4B (G422R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239584	NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)	CUL4B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3054270	NM_001079872.2(CUL4B):c.1791G>T (p.Leu597=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign

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