ClinVar for Gene (Select 9044) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3050804	NM_003972.3(BTAF1):c.3932A>G (p.His1311Arg)	BTAF1 (H1311R)	Single nucleotide variant (missense variant +1 more)	BTAF1-related condition	GUncertain significance
Select item 3035906	NM_003972.3(BTAF1):c.5075G>A (p.Arg1692Gln)	BTAF1 (R1692Q)	Single nucleotide variant (missense variant +1 more)	BTAF1-related condition	GLikely benign
Select item 3032136	NM_003972.3(BTAF1):c.3770A>G (p.Lys1257Arg)	BTAF1 (K1257R)	Single nucleotide variant (missense variant +1 more)	BTAF1-related condition	GUncertain significance
Select item 2685049	GRCh37/hg19 10q23.32-23.33(chr10:93419010-94107643)x4	BTAF1, CPEB3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684612	GRCh37/hg19 10q23.32(chr10:93723708-93941018)x3	BTAF1, CPEB3	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640676	NM_003972.3(BTAF1):c.5121C>T (p.His1707=)	BTAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640675	NM_003972.3(BTAF1):c.4659T>C (p.Leu1553=)	BTAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640674	NM_003972.3(BTAF1):c.2841G>A (p.Gln947=)	BTAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620214	NM_003972.3(BTAF1):c.4540C>T (p.Pro1514Ser)	BTAF1 (P1514S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616516	NM_003972.3(BTAF1):c.4516G>A (p.Glu1506Lys)	BTAF1 (E1506K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606129	NM_003972.3(BTAF1):c.3173G>A (p.Arg1058Lys)	BTAF1 (R1058K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605739	NM_003972.3(BTAF1):c.1857T>G (p.His619Gln)	BTAF1 (H619Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604171	NM_003972.3(BTAF1):c.4702G>A (p.Val1568Ile)	BTAF1 (V1568I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601240	NM_003972.3(BTAF1):c.2089G>A (p.Val697Ile)	BTAF1 (V697I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600534	NM_003972.3(BTAF1):c.3445G>T (p.Val1149Phe)	BTAF1 (V1149F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589349	NM_003972.3(BTAF1):c.968T>C (p.Met323Thr)	BTAF1 (M323T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2558051	NM_003972.3(BTAF1):c.3599A>G (p.Asp1200Gly)	BTAF1 (D1200G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548594	NM_003972.3(BTAF1):c.2005A>G (p.Thr669Ala)	BTAF1 (T669A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516971	NM_003972.3(BTAF1):c.775A>T (p.Asn259Tyr)	BTAF1 (N259Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516701	NM_003972.3(BTAF1):c.3601A>G (p.Ser1201Gly)	BTAF1 (S1201G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494840	NM_003972.3(BTAF1):c.4117G>C (p.Val1373Leu)	BTAF1 (V1373L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485552	NM_003972.3(BTAF1):c.3089C>G (p.Ala1030Gly)	BTAF1 (A1030G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482979	NM_003972.3(BTAF1):c.541G>T (p.Ala181Ser)	BTAF1 (A181S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481646	NM_003972.3(BTAF1):c.4091C>T (p.Thr1364Ile)	BTAF1 (T1364I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476605	NM_003972.3(BTAF1):c.1999C>T (p.Pro667Ser)	BTAF1 (P667S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475954	NM_003972.3(BTAF1):c.3061C>G (p.Leu1021Val)	BTAF1 (L1021V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472746	NM_003972.3(BTAF1):c.1379G>A (p.Ser460Asn)	BTAF1 (S460N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472387	NM_003972.3(BTAF1):c.3569C>T (p.Pro1190Leu)	BTAF1 (P1190L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465855	NM_003972.3(BTAF1):c.5251G>A (p.Val1751Ile)	BTAF1 (V1751I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2388123	NM_003972.3(BTAF1):c.1628C>T (p.Thr543Met)	BTAF1 (T543M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382381	NM_003972.3(BTAF1):c.2728A>G (p.Thr910Ala)	BTAF1 (T910A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372957	NM_003972.3(BTAF1):c.2038A>G (p.Met680Val)	BTAF1 (M680V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358568	NM_003972.3(BTAF1):c.4823A>G (p.His1608Arg)	BTAF1 (H1608R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347888	NM_003972.3(BTAF1):c.5047C>G (p.Pro1683Ala)	BTAF1 (P1683A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341112	NM_003972.3(BTAF1):c.4977A>G (p.Ile1659Met)	BTAF1 (I1659M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320703	NM_003972.3(BTAF1):c.3055C>G (p.Pro1019Ala)	BTAF1 (P1019A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318687	NM_003972.3(BTAF1):c.4972G>A (p.Asp1658Asn)	BTAF1 (D1658N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313181	NM_003972.3(BTAF1):c.256C>G (p.Pro86Ala)	BTAF1 (P86A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310876	NM_003972.3(BTAF1):c.3784A>C (p.Ile1262Leu)	BTAF1 (I1262L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304321	NM_003972.3(BTAF1):c.1395G>C (p.Gln465His)	BTAF1 (Q465H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304320	NM_003972.3(BTAF1):c.1304T>C (p.Ile435Thr)	BTAF1 (I435T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304048	NM_003972.3(BTAF1):c.3286A>G (p.Met1096Val)	BTAF1 (M1096V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277676	NM_003972.3(BTAF1):c.2070C>G (p.Cys690Trp)	BTAF1 (C690W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266167	NM_003972.3(BTAF1):c.3443A>C (p.Lys1148Thr)	BTAF1 (K1148T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255203	NM_003972.3(BTAF1):c.1990A>G (p.Met664Val)	BTAF1 (M664V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253876	NM_003972.3(BTAF1):c.1067G>A (p.Gly356Glu)	BTAF1 (G356E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240647	NM_003972.3(BTAF1):c.1523A>C (p.Gln508Pro)	BTAF1 (Q508P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235101	NM_003972.3(BTAF1):c.437G>A (p.Arg146Gln)	BTAF1 (R146Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808912	GRCh37/hg19 10q23.32(chr10:93577943-93922822)x3	BTAF1, CPEB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 1297985	NM_003972.3(BTAF1):c.991-45_991-38del	BTAF1	Deletion (intron variant)	not provided	GBenign
Select item 1291761	NM_003972.3(BTAF1):c.701+128T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290334	NM_003972.3(BTAF1):c.5076-193A>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290239	NM_003972.3(BTAF1):c.565-89T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289351	NM_003972.3(BTAF1):c.3309+142T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288738	NM_003972.3(BTAF1):c.254-123TG[20]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1287933	NM_003972.3(BTAF1):c.4711-271A>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287746	NM_003972.3(BTAF1):c.990+176G>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286203	NM_003972.3(BTAF1):c.1264-96A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286045	NM_003972.3(BTAF1):c.991-41A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284116	NM_003972.3(BTAF1):c.4584+6G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283898	NM_003972.3(BTAF1):c.832-83G>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283488	NM_003972.3(BTAF1):c.991-35A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283430	NM_003972.3(BTAF1):c.1755+114T>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282570	NM_003972.3(BTAF1):c.4711-208C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282442	NM_003972.3(BTAF1):c.3813+64G>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281857	NM_003972.3(BTAF1):c.1529+243C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280473	NM_003972.3(BTAF1):c.4864-24_4864-17dup	BTAF1	Duplication (intron variant)	not provided	GBenign
Select item 1279658	NM_003972.3(BTAF1):c.2855-280AT[4]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1279399	NM_003972.3(BTAF1):c.3661-83G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278733	NM_003972.3(BTAF1):c.2854+43T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278481	NM_003972.3(BTAF1):c.4584+31G>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278473	NM_003972.3(BTAF1):c.15-104C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276257	NM_003972.3(BTAF1):c.5235+49A>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276078	NM_003972.3(BTAF1):c.991-66TG[13]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1273214	NM_003972.3(BTAF1):c.3045+247A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273202	NM_003972.3(BTAF1):c.1404+316G>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270903	NM_003972.3(BTAF1):c.5075+146C>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270353	NM_003972.3(BTAF1):c.4311+20T>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268778	NM_003972.3(BTAF1):c.991-37A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268058	NM_003972.3(BTAF1):c.832-198A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266434	NM_003972.3(BTAF1):c.254-206T>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265763	NM_003972.3(BTAF1):c.254-123TG[13]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1265503	NM_003972.3(BTAF1):c.991-275T>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264591	NM_003972.3(BTAF1):c.991-66TG[14]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1263638	NM_003972.3(BTAF1):c.3814-224C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263341	NM_003972.3(BTAF1):c.254-127dup	BTAF1	Duplication (intron variant)	not provided	GBenign
Select item 1261802	NM_003972.3(BTAF1):c.1530-304C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259214	NM_003972.3(BTAF1):c.991-11T>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259148	NM_003972.3(BTAF1):c.4585-144G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255185	NM_003972.3(BTAF1):c.3200-195G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252763	NM_003972.3(BTAF1):c.4584+285G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252495	NM_003972.3(BTAF1):c.565-131A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign

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