Related gene-specific medical variations for Gene (Select 8450) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368651	NM_001079872.2(CUL4B):c.327T>G (p.Phe109Leu)	CUL4B, LOC113845788 (F109L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3360672	NM_001079872.2(CUL4B):c.914C>G (p.Ser305Cys)	CUL4B (S127C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359528	NM_001079872.2(CUL4B):c.2003A>G (p.Tyr668Cys)	CUL4B (Y490C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357496	NM_001079872.2(CUL4B):c.126CAG[3] (p.Ser49del)	CUL4B, LOC113845788 (S49del +2 more)	Microsatellite (inframe_deletion)	CUL4B-related disorder	GUncertain significance
Select item 3357462	NM_001079872.2(CUL4B):c.408G>A (p.Gln136=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3357208	NM_001079872.2(CUL4B):c.237A>C (p.Ser79=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3351431	NM_001330624.2(CUL4B):c.28+9G>C	CUL4B, LOC113845788	Single nucleotide variant (intron variant)	CUL4B-related disorder	GLikely benign
Select item 3348850	NM_001079872.2(CUL4B):c.351T>C (p.Ala117=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3347796	NM_001079872.2(CUL4B):c.200C>T (p.Thr67Ile)	CUL4B, LOC113845788 (T67I +2 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 3345182	NM_001079872.2(CUL4B):c.232C>G (p.Pro78Ala)	CUL4B, LOC113845788 (P78A +2 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 3078960	NM_001079872.2(CUL4B):c.159C>G (p.Asn53Lys)	CUL4B, LOC113845788 (N58K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078958	NM_001079872.2(CUL4B):c.86G>C (p.Ser29Thr)	CUL4B, LOC113845788 (S34T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3054859	NM_001079872.2(CUL4B):c.366C>G (p.Ser122=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3029037	NM_001079872.2(CUL4B):c.411G>A (p.Gln137=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3026268	NM_001079872.2(CUL4B):c.215C>T (p.Pro72Leu)	CUL4B, LOC113845788 (P72L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024245	NM_001079872.2(CUL4B):c.516del (p.Lys172fs)	CUL4B, LOC113845788 (K172fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2892426	NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)	CUL4B, LOC113845788 (S180del +2 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2874660	NM_001079872.2(CUL4B):c.556+9G>C	CUL4B, LOC113845788	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2856284	NM_001079872.2(CUL4B):c.69C>T (p.Ala23=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2818516	NM_001079872.2(CUL4B):c.15T>C (p.Gly5=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2768204	NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)	CUL4B, LOC113845788 (D92N +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2723754	NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)	CUL4B, LOC113845788 (F108L +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2712473	NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)	CUL4B, LOC113845788 (S166P +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2702101	NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)	CUL4B, LOC113845788 (E119* +2 more)	Single nucleotide variant (nonsense)	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2683923	NM_001079872.2(CUL4B):c.1444-1G>A	CUL4B	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2662039	NM_001079872.2(CUL4B):c.314A>T (p.Asp105Val)	CUL4B, LOC113845788 (D105V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2637939	NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)	CUL4B, LOC113845788 (S66Y +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2626897	NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)	CUL4B, LOC113845788 (T61fs +2 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 2585498	NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg)	CUL4B, LOC113845788 (S98R +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2582550	NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)	CUL4B, LOC113845788 (A114G +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2574888	NM_001079872.2(CUL4B):c.111G>C (p.Lys37Asn)	CUL4B, LOC113845788 (K37N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502162	NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2482265	NM_001079872.2(CUL4B):c.389C>A (p.Thr130Asn)	CUL4B, LOC113845788 (T130N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441956	NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)	CUL4B (P126L +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
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 2440627	NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)	CUL4B (D152H +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2229676	NM_001079872.2(CUL4B):c.47C>A (p.Ala16Asp)	CUL4B, LOC113845788 (A34D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202433	NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2115193	NM_001079872.2(CUL4B):c.243G>T (p.Ser81=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2076534	NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)	CUL4B, LOC113845788 (G26S +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2013669	NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)	CUL4B, LOC113845788 (S81F +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1980004	NM_001079872.2(CUL4B):c.510C>T (p.Asn170=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1916607	NM_001079872.2(CUL4B):c.378A>C (p.Ser126=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1914133	NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 1903777	NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1897074	NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)	CUL4B, LOC113845788 (S75L +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1800635	NM_001079872.2(CUL4B):c.144_152del (p.48SSN[1])	CUL4B, LOC113845788	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1710583	NM_001079872.2(CUL4B):c.94C>A (p.Pro32Thr)	CUL4B, LOC113845788 (P32T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698238	NM_001079872.2(CUL4B):c.165AGA[1] (p.Glu56del)	CUL4B, LOC113845788 (E56del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1676570	NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)	CUL4B	Single nucleotide variant	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 1676449	NM_003588.4(CUL4B):c.*552T>C	CUL4B	Single nucleotide variant	not provided	GUncertain significance
Select item 1609573	NM_001079872.2(CUL4B):c.270T>C (p.Ala90=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1475318	NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys)	CUL4B, LOC113845788 (R55K +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1337302	NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 1336165	NM_001079872.2(CUL4B):c.288G>A (p.Pro96=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1325608	NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr)	CUL4B (S373T +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 1319151	NM_001079872.2(CUL4B):c.777-3C>T	CUL4B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1313939	NM_001079872.2(CUL4B):c.65C>T (p.Ser22Phe)	CUL4B, LOC113845788 (S22F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305051	NM_001079872.2(CUL4B):c.175G>A (p.Asp59Asn)	CUL4B, LOC113845788 (D59N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206135	NM_001079872.2(CUL4B):c.131GCAGCAGTA[1] (p.Ser47_Ser49del)	CUL4B, LOC113845788	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1146929	NM_001079872.2(CUL4B):c.228A>G (p.Ala76=)	CUL4B, LOC113845788	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 1029013	NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr)	CUL4B, LOC113845788 (A20T +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 997964	GRCh37/hg19 Xq24(chrX:119660616-119681095)x1	CUL4B	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 959482	NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)	CUL4B, LOC113845788 (Q18R +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GConflicting classifications of pathogenicity
Select item 585737	NM_001079872.2(CUL4B):c.288_303delinsT (p.Ile97_Leu101del)	LOC113845788, CUL4B	Indel (inframe_deletion)	not provided	GUncertain significance
Select item 585736	NM_001079872.2(CUL4B):c.88A>G (p.Thr30Ala)	CUL4B, LOC113845788 (T48A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 572136	NM_001079872.2(CUL4B):c.139A>G (p.Ser47Gly)	CUL4B, LOC113845788 (S65G +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 533698	NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val)	CUL4B, LOC113845788 (L125V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 504176	NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del)	CUL4B, LOC113845788	Microsatellite (inframe_deletion)	X-linked intellectual disability Cabezas type +1 more	GConflicting classifications of pathogenicity
Select item 465138	NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)	CUL4B, LOC113845788 (Q116H +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 465137	NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser)	CUL4B, LOC113845788 (R39S +2 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 452955	NM_001079872.2(CUL4B):c.494T>C (p.Val165Ala)	CUL4B, LOC113845788 (V183A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420582	NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	not specified +2 more	GLikely benign
Select item 418570	NM_001079872.2(CUL4B):c.360CTC[5] (p.Ser128del)	CUL4B, LOC113845788 (S146del +2 more)	Microsatellite (inframe_deletion)	X-linked intellectual disability Cabezas type +1 more	GLikely benign
Select item 372872	NM_001079872.2(CUL4B):c.422A>G (p.Asn141Ser)	CUL4B, LOC113845788 (N159S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 208797	NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)	CUL4B, LOC113845788 (P50L +2 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 149916	GRCh38/hg38 Xq24(chrX:120526664-120531454)x0	CUL4B	Copy number loss	See cases	GLikely pathogenic

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Items: 79