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

Search results

Items: 94

	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 257640	NM_001211.6(BUB1B):c.9G>T (p.Ala3=)	BUB1B, LOC130056830	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
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)	Mosaic variegated aneuploidy syndrome 1 +2 more	GBenign
Select item 1317216	NM_001211.6(BUB1B):c.104G>A (p.Gly35Glu)	BUB1B (G35E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1706188	NM_001211.6(BUB1B):c.179G>A (p.Arg60Gln)	BUB1B (R60Q)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 533913	NM_001211.6(BUB1B):c.179+5G>A	BUB1B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1236635	NM_001211.6(BUB1B):c.179+34A>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270038	NM_001211.6(BUB1B):c.179+238C>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222012	NM_001211.6(BUB1B):c.180-268G>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205448	NM_001211.6(BUB1B):c.180-234G>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255307	NM_001211.6(BUB1B):c.180-35A>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320447	NM_001211.6(BUB1B):c.203T>G (p.Phe68Cys)	BUB1B (F68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257637	NM_001211.6(BUB1B):c.282G>A (p.Lys94=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 238666	NM_001211.6(BUB1B):c.348T>C (p.Tyr116=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1280811	NM_001211.6(BUB1B):c.384+172A>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243335	NM_001211.6(BUB1B):c.385-123T>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698343	NM_001211.6(BUB1B):c.704A>G (p.Lys235Arg)	BUB1B (K235R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181579	NM_001211.6(BUB1B):c.751+302A>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
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 1207829	NM_001211.6(BUB1B):c.1059-292A>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224749	NM_001211.6(BUB1B):c.1059-285G>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230256	NM_001211.6(BUB1B):c.1059-178A>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 533917	NM_001211.6(BUB1B):c.1059-7del	BUB1B	Deletion (intron variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 999351	NM_001211.6(BUB1B):c.1150A>G (p.Ser384Gly)	BUB1B (S384G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 257632	NM_001211.6(BUB1B):c.1164G>A (p.Ala388=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
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 133782	NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp)	BUB1B (E390D)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +2 more	GBenign
Select item 533899	NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp)	BUB1B (E409D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1198768	NM_001211.6(BUB1B):c.1288+211G>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196881	NM_001211.6(BUB1B):c.1289-146G>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274389	NM_001211.6(BUB1B):c.1289-43T>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403743	NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)	BUB1B (Q461P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1268674	NM_001211.6(BUB1B):c.1401+24A>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248710	NM_001211.6(BUB1B):c.1401+89C>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288165	NM_001211.6(BUB1B):c.1401+143C>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264973	NM_001211.6(BUB1B):c.1402-124G>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186073	NM_001211.6(BUB1B):c.1402-40G>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 652485	NM_001211.6(BUB1B):c.1412C>T (p.Thr471Met)	BUB1B (T471M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 998843	NM_001211.6(BUB1B):c.1492_1493delinsTA (p.Val498Tyr)	BUB1B (V498Y)	Indel (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1200765	NM_001211.6(BUB1B):c.1517+117T>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276830	NM_001211.6(BUB1B):c.1568-108G>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257633	NM_001211.6(BUB1B):c.1623T>C (p.Asn541=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 1226295	NM_001211.6(BUB1B):c.1734+57A>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276507	NM_001211.6(BUB1B):c.1734+65A>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287930	NM_001211.6(BUB1B):c.1734+172C>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194210	NM_001211.6(BUB1B):c.1735-242A>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251835	NM_001211.6(BUB1B):c.1735-213T>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326807	NM_001211.6(BUB1B):c.1825T>G (p.Cys609Gly)	BUB1B (C609G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1277592	NM_001211.6(BUB1B):c.2010-247C>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233893	NM_001211.6(BUB1B):c.2010-91dup	BUB1B	Duplication (intron variant)	not provided	GBenign
Select item 1804301	NM_001211.6(BUB1B):c.2129C>A (p.Thr710Asn)	BUB1B (T710N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257634	NM_001211.6(BUB1B):c.2143+15C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 533901	NM_001211.6(BUB1B):c.2210T>G (p.Leu737Ter)	BUB1B (L737*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 257635	NM_001211.6(BUB1B):c.2284+17T>G	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 1257775	NM_001211.6(BUB1B):c.2386-188C>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257636	NM_001211.6(BUB1B):c.2523C>T (p.Cys841=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 1237954	NM_001211.6(BUB1B):c.2535+229A>G	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189571	NM_001211.6(BUB1B):c.2535+297C>T	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219277	NM_001211.6(BUB1B):c.2536-302G>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230223	NM_001211.6(BUB1B):c.2536-254del	BUB1B	Deletion (intron variant)	not provided	GBenign
Select item 1258891	NM_001211.6(BUB1B):c.2536-253C>A	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241077	NM_001211.6(BUB1B):c.2536-114T>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279282	NM_001211.6(BUB1B):c.2536-104T>C	BUB1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2069196	NM_001211.6(BUB1B):c.2549A>G (p.His850Arg)	BUB1B (H850R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 803066	NM_001211.6(BUB1B):c.2679-97A>G	BUB1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288843	NM_001211.6(BUB1B):c.2679-69dup	BUB1B	Duplication (intron variant)	not provided	GBenign
Select item 1318456	NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val)	BUB1B, BUB1B-PAK6 (L918V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 6762	NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)	BUB1B, BUB1B-PAK6 (Q921H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1187817	NM_001211.6(BUB1B):c.2850+108A>G	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289024	NM_001211.6(BUB1B):c.2850+188T>C	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190012	NM_001211.6(BUB1B):c.2851-341A>T	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283448	NM_001211.6(BUB1B):c.2851-317A>G	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277457	NM_001211.6(BUB1B):c.2851-131A>G	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224924	NM_001211.6(BUB1B):c.2856C>T (p.Asp952=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign
Select item 817359	NM_001211.6(BUB1B):c.2869del (p.Ala957fs)	BUB1B, BUB1B-PAK6 +1 more (A957fs)	Deletion (frameshift variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely pathogenic
Select item 1175541	NM_001211.6(BUB1B):c.2958-134A>G	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 133772	NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser)	BUB1B, BUB1B-PAK6 (N1004S)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +3 more	GBenign/Likely benign
Select item 403757	NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)	BUB1B, BUB1B-PAK6 (N1032H)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 257638	NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1182609	NM_001211.6(BUB1B):c.*111A>G	BUB1B, BUB1B-PAK6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

ClinVar

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Items: 94