701[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 1265945	NC_000015.10:g.40160761A>C	BUB1B	Single nucleotide variant	not provided	GBenign
Select item 1222480	NC_000015.10:g.40160857G>T	BUB1B	Single nucleotide variant	not provided	GBenign
Select item 1289187	NC_000015.10:g.40160874G>A	BUB1B	Single nucleotide variant	not provided	GBenign
Select item 1296957	NC_000015.10:g.40160927C>T	BUB1B	Single nucleotide variant	not provided	GBenign
Select item 1251469	NC_000015.10:g.40160954A>G	BUB1B	Single nucleotide variant	not provided	GBenign
Select item 1294017	NM_001211.6(BUB1B):c.-115A>G	BUB1B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1211774	NM_001211.6(BUB1B):c.-42A>G	BUB1B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 583743	NC_000015.9:g.(?_40453416)_(40512966_?)dup	BUB1B, BUB1B-PAK6 +3 more	Duplication	Mosaic variegated aneuploidy syndrome	GUncertain significance
Select item 1042564	NM_001211.6(BUB1B):c.2dup (p.Met1fs)	BUB1B, LOC130056830 (M1fs)	Duplication (frameshift variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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)	Inborn genetic diseases +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)	LOC130056830, BUB1B (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 257640	NM_001211.6(BUB1B):c.9G>T (p.Ala3=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 133764	NM_001211.6(BUB1B):c.10G>A (p.Val4Met)	BUB1B, LOC130056830 (V4M)	Single nucleotide variant (missense variant)	BUB1B-related condition +3 more	GLikely benign
Select item 699872	NM_001211.6(BUB1B):c.15G>A (p.Lys5=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1782281	NM_001211.6(BUB1B):c.18G>A (p.Lys6=)	LOC130056830, BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 533915	NM_001211.6(BUB1B):c.19G>A (p.Glu7Lys)	BUB1B, LOC130056830 (E7K)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 2107523	NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp)	BUB1B, LOC130056830 (G8W)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	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)	Inborn genetic diseases +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 2984430	NM_001211.6(BUB1B):c.26G>A (p.Gly9Asp)	BUB1B, LOC130056830 (G9D)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1401108	NM_001211.6(BUB1B):c.26G>T (p.Gly9Val)	BUB1B, LOC130056830 (G9V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	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 2964932	NM_001211.6(BUB1B):c.29C>T (p.Ala10Val)	LOC130056830, BUB1B (A10V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1898776	NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg)	BUB1B, LOC130056830 (L11R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2307620	NM_001211.6(BUB1B):c.35+4G>T	LOC130056830, BUB1B	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 956941	NM_001211.6(BUB1B):c.35+4G>A	BUB1B, LOC130056830	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 770317	NM_001211.6(BUB1B):c.35+9G>A	BUB1B, LOC130056830	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 1242493	NM_001211.6(BUB1B):c.35+41G>A	BUB1B, LOC130056830	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177739	NM_001211.6(BUB1B):c.36-212A>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267722	NM_001211.6(BUB1B):c.36-125A>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257639	NM_001211.6(BUB1B):c.36-13dup	BUB1B	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1547694	NM_001211.6(BUB1B):c.36-14_36-13insG	BUB1B	Insertion (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 1619396	NM_001211.6(BUB1B):c.36-8C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2083538	NM_001211.6(BUB1B):c.36-1G>A	BUB1B	Single nucleotide variant (splice acceptor variant)	Mosaic variegated aneuploidy syndrome 1	GLikely pathogenic
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1741801	NM_001211.6(BUB1B):c.45G>C (p.Met15Ile)	BUB1B (M15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 861174	NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe)	BUB1B (S16F)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	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	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 2780263	NM_001211.6(BUB1B):c.74G>A (p.Ser25Asn)	BUB1B (S25N)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2697026	NM_001211.6(BUB1B):c.94_95insGCTCTCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACAACCTT (p.Leu32fs)	BUB1B (L32fs)	Insertion (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
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 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 2133952	NM_001211.6(BUB1B):c.99G>A (p.Arg33=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
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 1317216	NM_001211.6(BUB1B):c.104G>A (p.Gly35Glu)	BUB1B (G35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1779962	NM_001211.6(BUB1B):c.105G>C (p.Gly35=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1782959	NM_001211.6(BUB1B):c.106C>T (p.Arg36Trp)	BUB1B (R36W)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +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 1393954	NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln)	BUB1B (R36Q)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	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 1494231	NM_001211.6(BUB1B):c.114G>C (p.Met38Ile)	BUB1B (M38I)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 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 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)	Inborn genetic diseases +1 more	GLikely benign
Select item 1045130	NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg)	BUB1B (Q42R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 2799297	NM_001211.6(BUB1B):c.128G>A (p.Gly43Glu)	BUB1B (G43E)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 1549615	NM_001211.6(BUB1B):c.132A>G (p.Ala44=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
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 1491081	NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly)	BUB1B (A46G)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	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 2793084	NM_001211.6(BUB1B):c.139C>A (p.Gln47Lys)	BUB1B (Q47K)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	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)	Inborn genetic diseases +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 1319273	NM_001211.6(BUB1B):c.151T>C (p.Cys51Arg)	BUB1B (C51R)	Single nucleotide variant (missense variant)	not provided	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

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