ClinVar for MedGen (Select 338026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021516	NM_001211.6(BUB1B):c.1538A>G (p.Asn513Ser)	BUB1B (N513S)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3018326	NM_001211.6(BUB1B):c.1302del (p.Ser435fs)	BUB1B (S435fs)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 3015675	NM_001211.6(BUB1B):c.2386-5T>C	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 3013359	NM_001211.6(BUB1B):c.2565C>T (p.Thr855=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 3011610	NM_001211.6(BUB1B):c.414G>A (p.Met138Ile)	BUB1B (M138I)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3005746	NM_001211.6(BUB1B):c.408G>A (p.Leu136=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3000957	NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)	BUB1B, BUB1B-PAK6 (S1010C)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2989363	NM_001211.6(BUB1B):c.240-18C>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	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 2976901	NM_001211.6(BUB1B):c.2139T>C (p.Thr713=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2974820	NM_001211.6(BUB1B):c.2447A>G (p.Asn816Ser)	BUB1B (N816S)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2974293	NM_001211.6(BUB1B):c.2851-14T>C	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	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 2959462	NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)	BUB1B, BUB1B-PAK6 (K902N)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2917842	NM_001211.6(BUB1B):c.2144-13C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2916224	NM_001211.6(BUB1B):c.1198A>T (p.Lys400Ter)	BUB1B (K400*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2915294	NM_001211.6(BUB1B):c.1042G>A (p.Ala348Thr)	BUB1B (A348T)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2913819	NM_001211.6(BUB1B):c.897del (p.Met300fs)	BUB1B (M300fs)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2911511	NM_001211.6(BUB1B):c.2175G>A (p.Gln725=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2909853	NM_001211.6(BUB1B):c.2144-4_2144-3del	BUB1B	Deletion (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2909760	NM_001211.6(BUB1B):c.2123A>G (p.Glu708Gly)	BUB1B (E708G)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2909581	NM_001211.6(BUB1B):c.2264T>C (p.Ile755Thr)	BUB1B (I755T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2905710	NM_001211.6(BUB1B):c.2496T>C (p.Cys832=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 2900972	NM_001211.6(BUB1B):c.180-3C>G	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2896154	NM_001211.6(BUB1B):c.1757C>G (p.Pro586Arg)	BUB1B (P586R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2891253	NM_001211.6(BUB1B):c.384+6T>C	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2891057	NM_001211.6(BUB1B):c.1512T>G (p.Cys504Trp)	BUB1B (C504W)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2886941	NM_001211.6(BUB1B):c.2957+5G>A	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2884273	NM_001211.6(BUB1B):c.2284+17T>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2877256	NM_001211.6(BUB1B):c.1629-17G>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2870158	NM_001211.6(BUB1B):c.339A>C (p.Lys113Asn)	BUB1B (K113N)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2867205	NM_001211.6(BUB1B):c.2122G>C (p.Glu708Gln)	BUB1B (E708Q)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2866038	NM_001211.6(BUB1B):c.171G>C (p.Gln57His)	BUB1B (Q57H)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2864270	NM_001211.6(BUB1B):c.1763G>A (p.Ser588Asn)	BUB1B (S588N)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2858979	NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)	BUB1B, BUB1B-PAK6 (D974A)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2853387	NM_001211.6(BUB1B):c.1517+15G>C	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2842041	NM_001211.6(BUB1B):c.2612A>T (p.Glu871Val)	BUB1B (E871V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2841669	NM_001211.6(BUB1B):c.1568G>T (p.Gly523Val)	BUB1B (G523V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2838601	NM_001211.6(BUB1B):c.878A>G (p.Gln293Arg)	BUB1B (Q293R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2828957	NM_001211.6(BUB1B):c.1176G>A (p.Lys392=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2826244	NM_001211.6(BUB1B):c.1682T>C (p.Leu561Pro)	BUB1B (L561P)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2820962	NM_001211.6(BUB1B):c.795G>A (p.Gln265=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2820924	NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)	BUB1B, BUB1B-PAK6 (K966*)	Single nucleotide variant (nonsense +1 more)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2816596	NM_001211.6(BUB1B):c.1983_1994del (p.Gln662_Ser665del)	BUB1B	Deletion (inframe_deletion)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2816070	NM_001211.6(BUB1B):c.480A>G (p.Glu160=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2811488	NM_001211.6(BUB1B):c.2652T>A (p.Ser884Arg)	BUB1B (S884R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2808866	NM_001211.6(BUB1B):c.1628+24_1628+31del	BUB1B	Deletion (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2805346	NM_001211.6(BUB1B):c.596G>T (p.Arg199Leu)	BUB1B (R199L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 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 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 2777750	NM_001211.6(BUB1B):c.1760T>G (p.Leu587Trp)	BUB1B (L587W)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2763349	NM_001211.6(BUB1B):c.2143+15_2143+16delinsTT	BUB1B	Indel (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2756909	NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2756693	NM_001211.6(BUB1B):c.783A>C (p.Pro261=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2756659	NM_001211.6(BUB1B):c.897dup (p.Met300fs)	BUB1B (M300fs)	Duplication (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2756005	NM_001211.6(BUB1B):c.1373C>G (p.Thr458Ser)	BUB1B (T458S)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2752270	NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)	BUB1B, BUB1B-PAK6 (L962S)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2750610	NM_001211.6(BUB1B):c.2298C>G (p.Tyr766Ter)	BUB1B (Y766*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2742393	NM_001211.6(BUB1B):c.1289-11A>C	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2739509	NM_001211.6(BUB1B):c.1517+9A>G	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2738607	NM_001211.6(BUB1B):c.1734+16C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2729407	NM_001211.6(BUB1B):c.1313_1317del (p.Lys438fs)	BUB1B (K438fs)	Microsatellite (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2727522	NM_001211.6(BUB1B):c.2850+18C>T	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2725479	NM_001211.6(BUB1B):c.1628+20T>C	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2723943	NM_001211.6(BUB1B):c.179+8G>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2721762	NM_001211.6(BUB1B):c.2385G>A (p.Lys795=)	BUB1B	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2721193	NM_001211.6(BUB1B):c.2419A>G (p.Ile807Val)	BUB1B (I807V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2717106	NM_001211.6(BUB1B):c.2009+10G>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2715020	NM_001211.6(BUB1B):c.1628+15T>G	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2713526	NM_001211.6(BUB1B):c.1568-15TC[2]	BUB1B	Microsatellite (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2713361	NM_001211.6(BUB1B):c.1628+16G>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2700045	NM_001211.6(BUB1B):c.1542T>G (p.Ile514Met)	BUB1B (I514M)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2698565	NM_001211.6(BUB1B):c.545_546delinsCA (p.Lys182Thr)	BUB1B (K182T)	Indel (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 2693387	NM_001211.6(BUB1B):c.812G>A (p.Arg271Lys)	BUB1B (R271K)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2585919	NM_001211.6(BUB1B):c.932G>T (p.Gly311Val)	BUB1B (G311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2576571	NM_001013836.2(MAD1L1):c.1396C>T (p.Gln466Ter)	MAD1L1 (Q374* +1 more)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2576570	NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs)	MAD1L1 (E182fs +1 more)	Microsatellite (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
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 2497656	NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)	BUB1B, BUB1B-PAK6 (A943G)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2497650	NM_001211.6(BUB1B):c.2275A>G (p.Ile759Val)	BUB1B (I759V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2462531	NM_001211.6(BUB1B):c.2029C>T (p.Arg677Cys)	BUB1B (R677C)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2431740	NM_001211.6(BUB1B):c.1372del (p.Thr458fs)	BUB1B (T458fs)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GLikely pathogenic
Select item 2424974	NM_001211.6(BUB1B):c.2156A>T (p.Gln719Leu)	BUB1B (Q719L)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2423976	NC_000015.9:g.(?_40453422)_(40457417_?)del	BUB1B	Deletion	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2419598	NM_001211.6(BUB1B):c.2143+4G>C	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2415305	NM_001211.6(BUB1B):c.2511A>T (p.Gln837His)	BUB1B (Q837H)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2413908	NM_001211.6(BUB1B):c.967-3C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2335143	NM_001211.6(BUB1B):c.2563A>G (p.Thr855Ala)	BUB1B (T855A)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
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 2202424	NM_001211.6(BUB1B):c.2153del (p.Thr718fs)	BUB1B (T718fs)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2199403	NM_001211.6(BUB1B):c.1058+17G>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2199194	NM_001211.6(BUB1B):c.1628+8G>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2198356	NM_001211.6(BUB1B):c.180-15C>T	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2196645	NM_001211.6(BUB1B):c.1743del (p.Phe581fs)	BUB1B (F581fs)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2194020	NM_001211.6(BUB1B):c.2284+8C>A	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2191388	NM_001211.6(BUB1B):c.2678+13C>G	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2187691	NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter)	BUB1B (Q460*)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2187307	NM_001211.6(BUB1B):c.1288+18T>G	BUB1B	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign

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