"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CUL4B"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1239584	NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)	CUL4B	Single nucleotide variant (synonymous variant)	X-linked intellectual disability Cabezas type +3 more	GBenign/Likely benign
Select item 3026676	NM_001079872.2(CUL4B):c.1335C>T (p.Asn445=)	CUL4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661330	NM_001079872.2(CUL4B):c.949C>T (p.His317Tyr)	CUL4B (H139Y +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661331	NM_001079872.2(CUL4B):c.904A>G (p.Met302Val)	CUL4B (M124V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013077	NM_001079872.2(CUL4B):c.777-2dup	CUL4B	Duplication (splice acceptor variant)	not provided	GLikely pathogenic
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 516844	NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp)	CUL4B (G22D)	Single nucleotide variant (missense variant)	X-linked intellectual disability Cabezas type +3 more	GBenign/Likely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance