C1850343[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1434521	NM_001211.6(BUB1B):c.172C>A (p.Gln58Lys)	BUB1B (Q58K)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1035539	NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)	BUB1B (W78C)	Single nucleotide variant (missense variant)	Colorectal cancer +3 more	GUncertain significance
Select item 465370	NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)	BUB1B (Y81C)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome +3 more	GUncertain significance
Select item 6760	NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)	BUB1B (R194*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1	GConflicting classifications of pathogenicity
Select item 1172748	NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg)	BUB1B (K233R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +2 more	GUncertain significance
Select item 133779	NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)	BUB1B (P334L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1320283	NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)	BUB1B (S361R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +2 more	GUncertain significance
Select item 403741	NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)	BUB1B (E391del)	Microsatellite (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 533899	NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp)	BUB1B (E409D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2503511	NM_001211.6(BUB1B):c.1401G>T (p.Gln467His)	BUB1B (Q467H)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GLikely pathogenic
Select item 652485	NM_001211.6(BUB1B):c.1412C>T (p.Thr471Met)	BUB1B (T471M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 567797	NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu)	BUB1B (P640L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1026235	NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg)	BUB1B, BUB1B-PAK6 (S915R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1798851	NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu)	BUB1B, BUB1B-PAK6 (D1005E)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 403757	NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)	BUB1B, BUB1B-PAK6 (N1032H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity