ClinVar for Gene (Select 8450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377348	NM_001079872.2(CUL4B):c.1637-3T>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3376233	NM_001079872.2(CUL4B):c.1256+5G>A	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3376176	NM_001079872.2(CUL4B):c.1852G>C (p.Glu618Gln)	CUL4B (E440Q +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 3373278	NM_001079872.2(CUL4B):c.461A>G (p.His154Arg)	CUL4B, LOC113845788 (H154R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371448	NM_001079872.2(CUL4B):c.1899C>A (p.Asp633Glu)	CUL4B (D455E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370387	GRCh38/hg38 Xq24-25(chrX:119043046-123885987)x2	AKAP14, ATP1B4 +108 more	Copy number gain	Intellectual disability	GPathogenic
Select item 3369292	NM_001079872.2(CUL4B):c.2612G>A (p.Arg871Lys)	CUL4B (R693K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368799	NM_001079872.2(CUL4B):c.2144A>G (p.Lys715Arg)	CUL4B (K537R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	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 3364365	NM_001079872.2(CUL4B):c.1421A>G (p.Gln474Arg)	CUL4B (Q296R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3358208	NM_001079872.2(CUL4B):c.2440-6del	CUL4B	Deletion (intron variant)	CUL4B-related disorder	GLikely benign
Select item 3357553	NM_001079872.2(CUL4B):c.1396C>A (p.Arg466=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
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 3357139	NM_001079872.2(CUL4B):c.1989C>A (p.Ile663=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3357034	NM_001079872.2(CUL4B):c.1107A>G (p.Gln369=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3356439	NM_001079872.2(CUL4B):c.1501T>C (p.Leu501=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
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 3356033	NM_001079872.2(CUL4B):c.1596G>A (p.Thr532=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
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 3354570	NM_001079872.2(CUL4B):c.594C>T (p.Thr198=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3354447	NM_001079872.2(CUL4B):c.945G>A (p.Arg315=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3354266	NM_001079872.2(CUL4B):c.709A>G (p.Asn237Asp)	CUL4B (N237D +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GUncertain significance
Select item 3354083	NM_003588.4(CUL4B):c.42T>C (p.Asp14=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3353975	NM_001079872.2(CUL4B):c.712T>C (p.Leu238=)	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 3353778	NM_003588.4(CUL4B):c.15A>C (p.Ser5=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
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 3351578	NM_001079872.2(CUL4B):c.594C>A (p.Thr198=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3351523	NM_001079872.2(CUL4B):c.1257-9T>C	CUL4B	Single nucleotide variant (intron variant)	CUL4B-related disorder	GLikely benign
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 3351431	NM_001330624.2(CUL4B):c.28+9G>C	CUL4B, LOC113845788	Single nucleotide variant (intron variant)	CUL4B-related disorder	GLikely benign
Select item 3351373	NM_001079872.2(CUL4B):c.600A>G (p.Gln200=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3351286	NM_001079872.2(CUL4B):c.603A>G (p.Lys201=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
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 3350832	NM_001079872.2(CUL4B):c.576A>G (p.Glu192=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3350726	NM_001079872.2(CUL4B):c.763C>T (p.His255Tyr)	CUL4B (H255Y +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	GLikely benign
Select item 3349729	NM_003588.4(CUL4B):c.67+9dup	CUL4B	Duplication (intron variant)	CUL4B-related disorder	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 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 3348981	NM_001079872.2(CUL4B):c.2106A>G (p.Lys702=)	CUL4B	Single nucleotide variant (synonymous 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 3348625	NM_001079872.2(CUL4B):c.1852+4G>T	CUL4B	Single nucleotide variant (intron variant)	CUL4B-related disorder	GLikely benign
Select item 3348508	NM_001079872.2(CUL4B):c.630G>A (p.Gln210=)	CUL4B	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 3347125	NM_001079872.2(CUL4B):c.663A>C (p.Glu221Asp)	CUL4B (E221D +3 more)	Single nucleotide variant (missense variant)	CUL4B-related disorder	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 3346439	NM_001079872.2(CUL4B):c.1257-7dup	CUL4B	Duplication (intron variant)	CUL4B-related disorder	GLikely benign
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 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 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 3342601	NM_001079872.2(CUL4B):c.1246C>T (p.Gln416Ter)	CUL4B (Q238* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339701	NM_001079872.2(CUL4B):c.1257-14T>C	CUL4B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338087	NM_001079872.2(CUL4B):c.1007_1011del (p.Ile336fs)	CUL4B (I158fs +3 more)	Deletion (frameshift variant)	X-linked intellectual disability Cabezas type	GLikely pathogenic
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 3244094	NC_000023.10:g.(?_119575565)_(119660731_?)dup	CUL4B, LAMP2	Duplication	Danon disease	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235783	NM_001079872.2(CUL4B):c.1189C>T (p.His397Tyr)	CUL4B (H219Y +3 more)	Single nucleotide variant (missense variant)	not provided	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 3078959	NM_001079872.2(CUL4B):c.1397G>C (p.Arg466Pro)	CUL4B (R288P +3 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 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
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 3054838	NM_001079872.2(CUL4B):c.1803G>A (p.Lys601=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3054270	NM_001079872.2(CUL4B):c.1791G>T (p.Leu597=)	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 3051800	NM_001079872.2(CUL4B):c.2310C>G (p.Gly770=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3049511	NM_001079872.2(CUL4B):c.1212A>G (p.Glu404=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3049355	NM_001079872.2(CUL4B):c.1674A>G (p.Lys558=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3048591	NM_001079872.2(CUL4B):c.1182A>G (p.Glu394=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3047882	NM_001079872.2(CUL4B):c.1449T>C (p.Phe483=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3046736	NM_001079872.2(CUL4B):c.1650T>C (p.Asp550=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3044905	NM_001079872.2(CUL4B):c.849C>A (p.Ile283=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
Select item 3032873	NM_001079872.2(CUL4B):c.708A>G (p.Ala236=)	CUL4B	Single nucleotide variant (synonymous variant)	CUL4B-related disorder	GLikely benign
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 3031646	NM_001079872.2(CUL4B):c.2010G>A (p.Pro670=)	CUL4B	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 3028897	NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)	CUL4B (Y232* +3 more)	Duplication (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 3026676	NM_001079872.2(CUL4B):c.1335C>T (p.Asn445=)	CUL4B	Single nucleotide variant (synonymous variant)	not provided	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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
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 3005073	NM_001079872.2(CUL4B):c.777-11A>G	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2986032	NM_001079872.2(CUL4B):c.1256+18A>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2973993	NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
Select item 2919053	NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GUncertain significance
Select item 2905976	NM_001079872.2(CUL4B):c.1071G>A (p.Leu357=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GLikely benign
Select item 2894364	NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type	GBenign
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 2887634	NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)	CUL4B (M314L +3 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type	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 2878426	NM_001079872.2(CUL4B):c.1636+11C>T	CUL4B	Single nucleotide variant (intron variant)	X-linked intellectual disability Cabezas type	GBenign

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