"ITMI"[submitter] AND "BUB1B"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133764	NM_001211.6(BUB1B):c.10G>A (p.Val4Met)	LOC130056830, BUB1B (V4M)	Single nucleotide variant (missense variant)	BUB1B-related disorder +3 more	GLikely benign
Select item 6758	NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)	BUB1B (T40M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 133773	NM_001211.6(BUB1B):c.388C>T (p.Arg130Cys)	BUB1B (R130C)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 133774	NM_001211.6(BUB1B):c.572C>T (p.Ser191Phe)	BUB1B (S191F)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133775	NM_001211.6(BUB1B):c.676A>C (p.Thr226Pro)	BUB1B (T226P)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 133776	NM_001211.6(BUB1B):c.779A>G (p.Asn260Ser)	BUB1B (N260S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133777	NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)	BUB1B (N269D)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 133779	NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)	BUB1B (P334L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133778	NM_001211.6(BUB1B):c.1041_1042del (p.Ala348fs)	BUB1B (A348fs)	Deletion (frameshift variant)	not specified	Gnot provided
Select item 133780	NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln)	BUB1B (R349Q)	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 133783	NM_001211.6(BUB1B):c.1066T>C (p.Cys356Arg)	BUB1B (C356R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133782	NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp)	BUB1B (E390D)	Single nucleotide variant (missense variant)	Colorectal cancer +2 more	GBenign
Select item 133781	NM_001211.6(BUB1B):c.1232C>G (p.Ser411Cys)	BUB1B (S411C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133765	NM_001211.6(BUB1B):c.1397A>C (p.Asp466Ala)	BUB1B (D466A)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 133766	NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn)	BUB1B (K488N)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 133767	NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)	BUB1B (T493I)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GUncertain significance
Select item 403754	NM_001211.6(BUB1B):c.1617GAA[1] (p.Lys540del)	BUB1B (K540del)	Microsatellite (inframe_deletion)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 133769	NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala)	BUB1B (V618A)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 133770	NM_001211.6(BUB1B):c.1879T>C (p.Ser627Pro)	BUB1B (S627P)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 133771	NM_001211.6(BUB1B):c.2480A>G (p.Gln827Arg)	BUB1B (Q827R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133772	NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser)	BUB1B, BUB1B-PAK6 (N1004S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer +3 more	GBenign/Likely benign

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Items: 21