C1850343[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1035539	NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)	BUB1B (W78C)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +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 1 +3 more	GUncertain significance
Select item 1054371	NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)	BUB1B (Q153L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +2 more	GUncertain significance
Select item 533905	NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)	BUB1B (G246E)	Single nucleotide variant (missense variant)	Premature chromatid separation trait +2 more	GUncertain significance
Select item 1633593	NM_001211.6(BUB1B):c.751+15C>T	BUB1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 133777	NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)	BUB1B (N269D)	Single nucleotide variant (missense variant)	not provided +4 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 403741	NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)	BUB1B (E391del)	Microsatellite (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 533909	NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)	BUB1B (K454R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GUncertain significance
Select item 403748	NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)	BUB1B (E485K)	Single nucleotide variant (missense variant)	Carcinoma of colon +2 more	GUncertain significance
Select item 133767	NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)	BUB1B (T493I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 238662	NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)	BUB1B (P544S)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GUncertain significance
Select item 578374	NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)	BUB1B (T648I)	Single nucleotide variant (missense variant)	Colorectal cancer +4 more	GUncertain significance
Select item 6761	NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)	BUB1B (L844F)	Single nucleotide variant (missense variant)	Colorectal cancer +2 more	GUncertain significance
Select item 950342	NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala)	BUB1B, BUB1B-PAK6 (T1008A)	Single nucleotide variant (missense variant +1 more)	Premature chromatid separation trait +2 more	GUncertain significance
Select item 6765	NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)	BUB1B, BUB1B-PAK6 (L1012P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance