ClinVar for Gene (Select 701) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1833

<< First< Prev

Page of 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377818	NM_001211.6(BUB1B):c.2843C>T (p.Pro948Leu)	BUB1B, BUB1B-PAK6 (P948L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3351014	NM_001211.6(BUB1B):c.1289-4C>T	BUB1B	Single nucleotide variant (intron variant)	BUB1B-related disorder	GLikely benign
Select item 3336280	NM_001211.6(BUB1B):c.803dup (p.Asn268fs)	BUB1B (N268fs)	Duplication (frameshift variant)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 3262283	NM_001211.6(BUB1B):c.2528C>A (p.Thr843Asn)	BUB1B (T843N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262282	NM_001211.6(BUB1B):c.2221G>A (p.Ala741Thr)	BUB1B (A741T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262281	NM_001211.6(BUB1B):c.1627A>G (p.Ser543Gly)	BUB1B (S543G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262280	NM_001211.6(BUB1B):c.1569T>G (p.Gly523=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262279	NM_001211.6(BUB1B):c.2562T>G (p.Ile854Met)	BUB1B (I854M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262276	NM_001211.6(BUB1B):c.2339T>C (p.Leu780Ser)	BUB1B (L780S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262275	NM_001211.6(BUB1B):c.2077G>A (p.Ala693Thr)	BUB1B (A693T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3262274	NM_001211.6(BUB1B):c.896C>T (p.Pro299Leu)	BUB1B (P299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262273	NM_001211.6(BUB1B):c.2253T>G (p.Pro751=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262272	NM_001211.6(BUB1B):c.221C>G (p.Pro74Arg)	BUB1B (P74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262271	NM_001211.6(BUB1B):c.1928A>C (p.Asp643Ala)	BUB1B (D643A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262270	NM_001211.6(BUB1B):c.874G>T (p.Val292Phe)	BUB1B (V292F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262268	NM_001211.6(BUB1B):c.2668C>A (p.Leu890Ile)	BUB1B (L890I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262267	NM_001211.6(BUB1B):c.2245C>G (p.Pro749Ala)	BUB1B (P749A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262266	NM_001211.6(BUB1B):c.2717C>T (p.Ala906Val)	BUB1B, BUB1B-PAK6 (A906V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262265	NM_001211.6(BUB1B):c.502T>C (p.Phe168Leu)	BUB1B (F168L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262264	NM_001211.6(BUB1B):c.3025G>T (p.Val1009Leu)	BUB1B, BUB1B-PAK6 (V1009L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262263	NM_001211.6(BUB1B):c.2539C>T (p.Leu847Phe)	BUB1B (L847F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262262	NM_001211.6(BUB1B):c.2055C>T (p.Phe685=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262261	NM_001211.6(BUB1B):c.3098A>G (p.Lys1033Arg)	BUB1B, BUB1B-PAK6 (K1033R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262260	NM_001211.6(BUB1B):c.851C>G (p.Thr284Arg)	BUB1B (T284R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3262259	NM_001211.6(BUB1B):c.362T>A (p.Phe121Tyr)	BUB1B (F121Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262257	NM_001211.6(BUB1B):c.1854A>G (p.Val618=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262256	NM_001211.6(BUB1B):c.3047C>A (p.Ala1016Glu)	BUB1B, BUB1B-PAK6 (A1016E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262255	NM_001211.6(BUB1B):c.1407A>G (p.Glu469=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262254	NM_001211.6(BUB1B):c.490G>T (p.Ala164Ser)	BUB1B (A164S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262253	NM_001211.6(BUB1B):c.2812G>A (p.Gly938Arg)	BUB1B, BUB1B-PAK6 (G938R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262252	NM_001211.6(BUB1B):c.1794T>C (p.Asn598=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262251	NM_001211.6(BUB1B):c.344A>G (p.Tyr115Cys)	BUB1B (Y115C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262250	NM_001211.6(BUB1B):c.1740A>G (p.Glu580=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262249	NM_001211.6(BUB1B):c.2583G>T (p.Leu861Phe)	BUB1B (L861F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262248	NM_001211.6(BUB1B):c.1704C>T (p.Thr568=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262246	NM_001211.6(BUB1B):c.1215A>C (p.Ala405=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262245	NM_001211.6(BUB1B):c.3131C>G (p.Pro1044Arg)	BUB1B, BUB1B-PAK6 (P1044R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262244	NM_001211.6(BUB1B):c.311G>A (p.Arg104Lys)	BUB1B (R104K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262243	NM_001211.6(BUB1B):c.2373A>C (p.Leu791Phe)	BUB1B (L791F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262242	NM_001211.6(BUB1B):c.1367T>G (p.Ile456Ser)	BUB1B (I456S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262241	NM_001211.6(BUB1B):c.2471G>A (p.Ser824Asn)	BUB1B (S824N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262240	NM_001211.6(BUB1B):c.2536G>T (p.Asp846Tyr)	BUB1B (D846Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262239	NM_001211.6(BUB1B):c.354T>A (p.Asp118Glu)	BUB1B (D118E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262238	NM_001211.6(BUB1B):c.2596C>A (p.Leu866Ile)	BUB1B (L866I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262237	NM_001211.6(BUB1B):c.1691C>T (p.Ser564Leu)	BUB1B (S564L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262235	NM_001211.6(BUB1B):c.2787C>T (p.Gly929=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262234	NM_001211.6(BUB1B):c.2786G>T (p.Gly929Val)	BUB1B, BUB1B-PAK6 (G929V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262233	NM_001211.6(BUB1B):c.725T>C (p.Ile242Thr)	BUB1B (I242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262232	NM_001211.6(BUB1B):c.2641G>A (p.Gly881Ser)	BUB1B (G881S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262231	NM_001211.6(BUB1B):c.997G>A (p.Val333Ile)	BUB1B (V333I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262230	NM_001211.6(BUB1B):c.32T>A (p.Leu11Gln)	BUB1B, LOC130056830 (L11Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262229	NM_001211.6(BUB1B):c.1354A>C (p.Lys452Gln)	BUB1B (K452Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262227	NM_001211.6(BUB1B):c.3037G>C (p.Gly1013Arg)	BUB1B, BUB1B-PAK6 (G1013R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262226	NM_001211.6(BUB1B):c.1023T>A (p.Thr341=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262225	NM_001211.6(BUB1B):c.1458T>C (p.Ser486=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262224	NM_001211.6(BUB1B):c.745C>T (p.Leu249Phe)	BUB1B (L249F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262223	NM_001211.6(BUB1B):c.3135G>C (p.Gly1045=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262222	NM_001211.6(BUB1B):c.2896A>G (p.Lys966Glu)	BUB1B, BUB1B-PAK6 (K966E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262221	NM_001211.6(BUB1B):c.2904C>T (p.His968=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262220	NM_001211.6(BUB1B):c.1297T>C (p.Leu433=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262218	NM_001211.6(BUB1B):c.207C>T (p.Tyr69=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262217	NM_001211.6(BUB1B):c.2439A>C (p.Glu813Asp)	BUB1B (E813D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262216	NM_001211.6(BUB1B):c.918T>G (p.Asn306Lys)	BUB1B (N306K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262215	NM_001211.6(BUB1B):c.3124A>T (p.Thr1042Ser)	BUB1B, BUB1B-PAK6 (T1042S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262214	NM_001211.6(BUB1B):c.1073T>C (p.Ile358Thr)	BUB1B (I358T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262213	NM_001211.6(BUB1B):c.40G>A (p.Ala14Thr)	BUB1B (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262212	NM_001211.6(BUB1B):c.2082C>T (p.Ser694=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262211	NM_001211.6(BUB1B):c.2967T>C (p.Asp989=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262209	NM_001211.6(BUB1B):c.1362A>G (p.Lys454=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262208	NM_001211.6(BUB1B):c.951G>T (p.Arg317Ser)	BUB1B (R317S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262207	NM_001211.6(BUB1B):c.653A>G (p.Glu218Gly)	BUB1B (E218G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3262206	NM_001211.6(BUB1B):c.659C>T (p.Ser220Phe)	BUB1B (S220F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262204	NM_001211.6(BUB1B):c.2759T>G (p.Val920Gly)	BUB1B, BUB1B-PAK6 (V920G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262203	NM_001211.6(BUB1B):c.1819G>A (p.Asp607Asn)	BUB1B (D607N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262202	NM_001211.6(BUB1B):c.3048A>G (p.Ala1016=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262200	NM_001211.6(BUB1B):c.1883T>C (p.Leu628Ser)	BUB1B (L628S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262199	NM_001211.6(BUB1B):c.2514T>C (p.Tyr838=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262198	NM_001211.6(BUB1B):c.2797G>T (p.Val933Leu)	BUB1B, BUB1B-PAK6 (V933L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262197	NM_001211.6(BUB1B):c.2490T>G (p.Asp830Glu)	BUB1B (D830E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262194	NM_001211.6(BUB1B):c.1581T>C (p.Pro527=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3262193	NM_001211.6(BUB1B):c.1398T>A (p.Asp466Glu)	BUB1B (D466E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262191	NM_001211.6(BUB1B):c.2676C>G (p.Asn892Lys)	BUB1B (N892K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262190	NM_001211.6(BUB1B):c.1040C>G (p.Thr347Ser)	BUB1B (T347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262189	NM_001211.6(BUB1B):c.139C>G (p.Gln47Glu)	BUB1B (Q47E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3243778	NC_000015.9:g.(?_40500828)_(40502421_?)del	BUB1B	Deletion	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 3243777	NC_000015.9:g.(?_40500828)_(40500981_?)del	BUB1B	Deletion	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 3221456	NM_001211.6(BUB1B):c.975C>T (p.Gly325=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221455	NM_001211.6(BUB1B):c.972T>C (p.Arg324=)	BUB1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3221453	NM_001211.6(BUB1B):c.920A>G (p.Glu307Gly)	BUB1B (E307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221452	NM_001211.6(BUB1B):c.913G>A (p.Glu305Lys)	BUB1B (E305K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221451	NM_001211.6(BUB1B):c.901C>G (p.Pro301Ala)	BUB1B (P301A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221450	NM_001211.6(BUB1B):c.898A>G (p.Met300Val)	BUB1B (M300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3221449	NM_001211.6(BUB1B):c.858G>T (p.Glu286Asp)	BUB1B (E286D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221448	NM_001211.6(BUB1B):c.838G>A (p.Asp280Asn)	BUB1B (D280N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221447	NM_001211.6(BUB1B):c.827A>T (p.Asp276Val)	BUB1B (D276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221446	NM_001211.6(BUB1B):c.810T>A (p.Ser270Arg)	BUB1B (S270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221445	NM_001211.6(BUB1B):c.769G>A (p.Gly257Arg)	BUB1B (G257R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221444	NM_001211.6(BUB1B):c.765C>G (p.Asn255Lys)	BUB1B (N255K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 19