"BUB1B-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133764	NM_001211.6(BUB1B):c.10G>A (p.Val4Met)	BUB1B, LOC130056830 (V4M)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GLikely benign
Select item 3029686	NM_001211.6(BUB1B):c.385G>C (p.Gly129Arg)	BUB1B (G129R)	Single nucleotide variant (missense variant)	BUB1B-related condition	GUncertain significance
Select item 736042	NM_001211.6(BUB1B):c.581+7T>G	BUB1B	Single nucleotide variant (intron variant)	BUB1B-related condition +1 more	GLikely benign
Select item 403745	NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe)	BUB1B (L258F)	Single nucleotide variant (missense variant)	BUB1B-related condition +2 more	GLikely benign
Select item 1381297	NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val)	BUB1B (A388V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 465359	NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp)	BUB1B (R421W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 238661	NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)	BUB1B	Single nucleotide variant (synonymous variant)	Colorectal cancer +4 more	GConflicting classifications of pathogenicity
Select item 3055681	NM_001211.6(BUB1B):c.1567+3G>A	BUB1B	Single nucleotide variant (intron variant)	BUB1B-related condition	GLikely benign
Select item 1160108	NM_001211.6(BUB1B):c.2634A>C (p.Ile878=)	BUB1B	Single nucleotide variant (synonymous variant)	BUB1B-related condition +1 more	GLikely benign