"Ambry Genetics"[submitter] AND "BUB1B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1756618	NM_001211.6(BUB1B):c.6G>C (p.Ala2=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1756612	NM_001211.6(BUB1B):c.6G>A (p.Ala2=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 1761599	NM_001211.6(BUB1B):c.7G>A (p.Ala3Thr)	BUB1B, LOC130056830 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1765420	NM_001211.6(BUB1B):c.8C>T (p.Ala3Val)	BUB1B, LOC130056830 (A3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768931	NM_001211.6(BUB1B):c.9G>A (p.Ala3=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 699872	NM_001211.6(BUB1B):c.15G>A (p.Lys5=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +2 more	GLikely benign
Select item 1782281	NM_001211.6(BUB1B):c.18G>A (p.Lys6=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787576	NM_001211.6(BUB1B):c.21A>G (p.Glu7=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1428960	NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp)	BUB1B, LOC130056830 (E7D)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 3221382	NM_001211.6(BUB1B):c.22G>C (p.Gly8Arg)	BUB1B, LOC130056830 (G8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790718	NM_001211.6(BUB1B):c.23G>T (p.Gly8Val)	BUB1B, LOC130056830 (G8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1019330	NM_001211.6(BUB1B):c.23G>C (p.Gly8Ala)	BUB1B, LOC130056830 (G8A)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1792223	NM_001211.6(BUB1B):c.24G>A (p.Gly8=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221397	NM_001211.6(BUB1B):c.25G>A (p.Gly9Ser)	BUB1B, LOC130056830 (G9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575983	NM_001211.6(BUB1B):c.26G>C (p.Gly9Ala)	BUB1B, LOC130056830 (G9A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1796206	NM_001211.6(BUB1B):c.27T>A (p.Gly9=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2307620	NM_001211.6(BUB1B):c.35+4G>T	BUB1B, LOC130056830	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1739530	NM_001211.6(BUB1B):c.42C>T (p.Ala14=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 969118	NM_001211.6(BUB1B):c.44T>C (p.Met15Thr)	BUB1B (M15T)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1741801	NM_001211.6(BUB1B):c.45G>C (p.Met15Ile)	BUB1B (M15I)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 3221430	NM_001211.6(BUB1B):c.47C>A (p.Ser16Tyr)	BUB1B (S16Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743176	NM_001211.6(BUB1B):c.47C>G (p.Ser16Cys)	BUB1B (S16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1743949	NM_001211.6(BUB1B):c.48C>T (p.Ser16=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1747954	NM_001211.6(BUB1B):c.54G>A (p.Glu18=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1036995	NM_001211.6(BUB1B):c.54G>C (p.Glu18Asp)	BUB1B (E18D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1141907	NM_001211.6(BUB1B):c.60T>C (p.Asp20=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 2462454	NM_001211.6(BUB1B):c.61G>A (p.Glu21Lys)	BUB1B (E21K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756047	NM_001211.6(BUB1B):c.68A>T (p.Glu23Val)	BUB1B (E23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756549	NM_001211.6(BUB1B):c.69A>T (p.Glu23Asp)	BUB1B (E23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1759752	NM_001211.6(BUB1B):c.75T>C (p.Ser25=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2585931	NM_001211.6(BUB1B):c.77A>T (p.Lys26Ile)	BUB1B (K26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763653	NM_001211.6(BUB1B):c.84T>C (p.Asn28=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2234321	NM_001211.6(BUB1B):c.86T>C (p.Val29Ala)	BUB1B (V29A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764698	NM_001211.6(BUB1B):c.87A>C (p.Val29=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1765782	NM_001211.6(BUB1B):c.90A>G (p.Gln30=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1766165	NM_001211.6(BUB1B):c.91C>T (p.Pro31Ser)	BUB1B (P31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1766479	NM_001211.6(BUB1B):c.92C>G (p.Pro31Arg)	BUB1B (P31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221454	NM_001211.6(BUB1B):c.93T>G (p.Pro31=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767867	NM_001211.6(BUB1B):c.96A>G (p.Leu32=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767863	NM_001211.6(BUB1B):c.96A>C (p.Leu32Phe)	BUB1B (L32F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565445	NM_001211.6(BUB1B):c.101A>G (p.Gln34Arg)	BUB1B (Q34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776692	NM_001211.6(BUB1B):c.104G>C (p.Gly35Ala)	BUB1B (G35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779962	NM_001211.6(BUB1B):c.105G>C (p.Gly35=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 1782959	NM_001211.6(BUB1B):c.106C>T (p.Arg36Trp)	BUB1B (R36W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1782931	NM_001211.6(BUB1B):c.106C>A (p.Arg36=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3221330	NM_001211.6(BUB1B):c.112A>G (p.Met38Val)	BUB1B (M38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1730919	NM_001211.6(BUB1B):c.113T>C (p.Met38Thr)	BUB1B (M38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221333	NM_001211.6(BUB1B):c.117C>A (p.Ser39=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1744424	NM_001211.6(BUB1B):c.118A>G (p.Thr40Ala)	BUB1B (T40A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750056	NM_001211.6(BUB1B):c.120G>T (p.Thr40=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1543286	NM_001211.6(BUB1B):c.120G>A (p.Thr40=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 1765072	NM_001211.6(BUB1B):c.126G>A (p.Gln42=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769297	NM_001211.6(BUB1B):c.129A>G (p.Gly43=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769630	NM_001211.6(BUB1B):c.130G>A (p.Ala44Thr)	BUB1B (A44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585934	NM_001211.6(BUB1B):c.131C>G (p.Ala44Gly)	BUB1B (A44G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770321	NM_001211.6(BUB1B):c.133C>T (p.Leu45=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 663505	NM_001211.6(BUB1B):c.136G>A (p.Ala46Thr)	BUB1B (A46T)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1771492	NM_001211.6(BUB1B):c.138A>G (p.Ala46=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3135598	NM_001211.6(BUB1B):c.140A>G (p.Gln47Arg)	BUB1B (Q47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771979	NM_001211.6(BUB1B):c.140A>T (p.Gln47Leu)	BUB1B (Q47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771974	NM_001211.6(BUB1B):c.140A>C (p.Gln47Pro)	BUB1B (Q47P)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1773332	NM_001211.6(BUB1B):c.146C>T (p.Ser49Phe)	BUB1B (S49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773754	NM_001211.6(BUB1B):c.148G>T (p.Ala50Ser)	BUB1B (A50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221354	NM_001211.6(BUB1B):c.155A>G (p.Asn52Ser)	BUB1B (N52S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733265	NM_001211.6(BUB1B):c.156C>T (p.Asn52=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1776116	NM_001211.6(BUB1B):c.159T>C (p.Asn53=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 2497649	NM_001211.6(BUB1B):c.161C>T (p.Thr54Ile)	BUB1B (T54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 937008	NM_001211.6(BUB1B):c.163C>G (p.Leu55Val)	BUB1B (L55V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1777465	NM_001211.6(BUB1B):c.165T>C (p.Leu55=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 715216	NM_001211.6(BUB1B):c.171G>A (p.Gln57=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 1779152	NM_001211.6(BUB1B):c.173A>G (p.Gln58Arg)	BUB1B (Q58R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016105	NM_001211.6(BUB1B):c.178C>G (p.Arg60Gly)	BUB1B (R60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533913	NM_001211.6(BUB1B):c.179+5G>A	BUB1B	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 403738	NM_001211.6(BUB1B):c.180-3C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GBenign
Select item 3221362	NM_001211.6(BUB1B):c.181G>A (p.Ala61Thr)	BUB1B (A61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221364	NM_001211.6(BUB1B):c.182C>T (p.Ala61Val)	BUB1B (A61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048232	NM_001211.6(BUB1B):c.184T>C (p.Phe62Leu)	BUB1B (F62L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2450823	NM_001211.6(BUB1B):c.188A>T (p.Glu63Val)	BUB1B (E63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782865	NM_001211.6(BUB1B):c.192T>C (p.Tyr64=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1783951	NM_001211.6(BUB1B):c.198T>A (p.Ile66=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1401134	NM_001211.6(BUB1B):c.200G>A (p.Arg67Gln)	BUB1B (R67Q)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1785342	NM_001211.6(BUB1B):c.206A>G (p.Tyr69Cys)	BUB1B (Y69C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 851148	NM_001211.6(BUB1B):c.209C>T (p.Thr70Ile)	BUB1B (T70I)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1786086	NM_001211.6(BUB1B):c.210T>C (p.Thr70=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787070	NM_001211.6(BUB1B):c.216T>A (p.Asn72Lys)	BUB1B (N72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365620	NM_001211.6(BUB1B):c.218A>G (p.Asp73Gly)	BUB1B (D73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 705657	NM_001211.6(BUB1B):c.219C>T (p.Asp73=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 1788092	NM_001211.6(BUB1B):c.222T>C (p.Pro74=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788252	NM_001211.6(BUB1B):c.223C>T (p.Leu75=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 533902	NM_001211.6(BUB1B):c.229G>A (p.Val77Ile)	BUB1B (V77I)	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)	Mosaic variegated aneuploidy syndrome 1 +3 more	GUncertain significance
Select item 1790136	NM_001211.6(BUB1B):c.235G>A (p.Asp79Asn)	BUB1B (D79N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790871	NM_001211.6(BUB1B):c.240G>T (p.Arg80Ser)	BUB1B (R80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790869	NM_001211.6(BUB1B):c.240G>C (p.Arg80Ser)	BUB1B (R80S)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 647348	NM_001211.6(BUB1B):c.240G>A (p.Arg80=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2592572	NM_001211.6(BUB1B):c.246C>A (p.Ile82=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2592582	NM_001211.6(BUB1B):c.247A>T (p.Ser83Cys)	BUB1B (S83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497646	NM_001211.6(BUB1B):c.247A>G (p.Ser83Gly)	BUB1B (S83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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