BTAF1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174183	NM_003972.3(BTAF1):c.14+299G>C	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 1178514	NM_003972.3(BTAF1):c.139-60C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3135342	NM_003972.3(BTAF1):c.147A>G (p.Ile49Met)	BTAF1 (I49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1266434	NM_003972.3(BTAF1):c.254-206T>A	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 1288738	NM_003972.3(BTAF1):c.254-123TG[20]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247181	NM_003972.3(BTAF1):c.254-123TG[19]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245501	NM_003972.3(BTAF1):c.254-123TG[17]	BTAF1	Microsatellite (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 1240855	NM_003972.3(BTAF1):c.254-123TG[10]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 2313181	NM_003972.3(BTAF1):c.256C>G (p.Pro86Ala)	BTAF1 (P86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1234034	NM_003972.3(BTAF1):c.400+80C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243130	NM_003972.3(BTAF1):c.400+118G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247960	NM_003972.3(BTAF1):c.401-160T>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2235101	NM_003972.3(BTAF1):c.437G>A (p.Arg146Gln)	BTAF1 (R146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482979	NM_003972.3(BTAF1):c.541G>T (p.Ala181Ser)	BTAF1 (A181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1252495	NM_003972.3(BTAF1):c.565-131A>G	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 1291761	NM_003972.3(BTAF1):c.701+128T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248537	NM_003972.3(BTAF1):c.701+177A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3135358	NM_003972.3(BTAF1):c.731A>G (p.Glu244Gly)	BTAF1 (E244G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516971	NM_003972.3(BTAF1):c.775A>T (p.Asn259Tyr)	BTAF1 (N259Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1241652	NM_003972.3(BTAF1):c.831+177T>C	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 1283898	NM_003972.3(BTAF1):c.832-83G>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181565	NM_003972.3(BTAF1):c.900+139C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2589349	NM_003972.3(BTAF1):c.968T>C (p.Met323Thr)	BTAF1 (M323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1287746	NM_003972.3(BTAF1):c.990+176G>T	BTAF1	Single nucleotide variant (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 1276078	NM_003972.3(BTAF1):c.991-66TG[13]	BTAF1	Microsatellite (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 1297985	NM_003972.3(BTAF1):c.991-45_991-38del	BTAF1	Deletion (intron variant)	not provided	GBenign
Select item 1247652	NM_003972.3(BTAF1):c.991-44TA[10]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228961	NM_003972.3(BTAF1):c.991-44TA[13]	BTAF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240615	NM_003972.3(BTAF1):c.991-43A>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 1178618	NM_003972.3(BTAF1):c.991-39A>G	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 1283488	NM_003972.3(BTAF1):c.991-35A>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244288	NM_003972.3(BTAF1):c.991-33A>G	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 2253876	NM_003972.3(BTAF1):c.1067G>A (p.Gly356Glu)	BTAF1 (G356E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135341	NM_003972.3(BTAF1):c.1132G>A (p.Val378Ile)	BTAF1 (V378I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1232431	NM_003972.3(BTAF1):c.1263+233T>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239590	NM_003972.3(BTAF1):c.1263+287C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252416	NM_003972.3(BTAF1):c.1264-228_1264-225del	BTAF1	Deletion (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 2304320	NM_003972.3(BTAF1):c.1304T>C (p.Ile435Thr)	BTAF1 (I435T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472746	NM_003972.3(BTAF1):c.1379G>A (p.Ser460Asn)	BTAF1 (S460N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304321	NM_003972.3(BTAF1):c.1395G>C (p.Gln465His)	BTAF1 (Q465H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1273202	NM_003972.3(BTAF1):c.1404+316G>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2240647	NM_003972.3(BTAF1):c.1523A>C (p.Gln508Pro)	BTAF1 (Q508P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1281857	NM_003972.3(BTAF1):c.1529+243C>T	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231643	NM_003972.3(BTAF1):c.1529+308G>A	BTAF1	Single nucleotide variant (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 2388123	NM_003972.3(BTAF1):c.1628C>T (p.Thr543Met)	BTAF1 (T543M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135343	NM_003972.3(BTAF1):c.1643A>G (p.Gln548Arg)	BTAF1 (Q548R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1283430	NM_003972.3(BTAF1):c.1755+114T>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2605739	NM_003972.3(BTAF1):c.1857T>G (p.His619Gln)	BTAF1 (H619Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255203	NM_003972.3(BTAF1):c.1990A>G (p.Met664Val)	BTAF1 (M664V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476605	NM_003972.3(BTAF1):c.1999C>T (p.Pro667Ser)	BTAF1 (P667S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548594	NM_003972.3(BTAF1):c.2005A>G (p.Thr669Ala)	BTAF1 (T669A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372957	NM_003972.3(BTAF1):c.2038A>G (p.Met680Val)	BTAF1 (M680V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277676	NM_003972.3(BTAF1):c.2070C>G (p.Cys690Trp)	BTAF1 (C690W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601240	NM_003972.3(BTAF1):c.2089G>A (p.Val697Ile)	BTAF1 (V697I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135344	NM_003972.3(BTAF1):c.2599T>A (p.Leu867Met)	BTAF1 (L867M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782533	NM_003972.3(BTAF1):c.2620T>C (p.Leu874=)	BTAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3135345	NM_003972.3(BTAF1):c.2646G>C (p.Met882Ile)	BTAF1 (M882I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382381	NM_003972.3(BTAF1):c.2728A>G (p.Thr910Ala)	BTAF1 (T910A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135346	NM_003972.3(BTAF1):c.2767C>T (p.Leu923Phe)	BTAF1 (L923F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1278733	NM_003972.3(BTAF1):c.2854+43T>G	BTAF1	Single nucleotide variant (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 1229398	NM_003972.3(BTAF1):c.3045+156G>A	BTAF1	Single nucleotide variant (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 2320703	NM_003972.3(BTAF1):c.3055C>G (p.Pro1019Ala)	BTAF1 (P1019A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475954	NM_003972.3(BTAF1):c.3061C>G (p.Leu1021Val)	BTAF1 (L1021V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485552	NM_003972.3(BTAF1):c.3089C>G (p.Ala1030Gly)	BTAF1 (A1030G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135347	NM_003972.3(BTAF1):c.3148T>C (p.Trp1050Arg)	BTAF1 (W1050R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135348	NM_003972.3(BTAF1):c.3149G>T (p.Trp1050Leu)	BTAF1 (W1050L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606129	NM_003972.3(BTAF1):c.3173G>A (p.Arg1058Lys)	BTAF1 (R1058K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247118	NM_003972.3(BTAF1):c.3200-222del	BTAF1	Deletion (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 1232262	NM_003972.3(BTAF1):c.3200-129G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2304048	NM_003972.3(BTAF1):c.3286A>G (p.Met1096Val)	BTAF1 (M1096V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1289351	NM_003972.3(BTAF1):c.3309+142T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2266167	NM_003972.3(BTAF1):c.3443A>C (p.Lys1148Thr)	BTAF1 (K1148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600534	NM_003972.3(BTAF1):c.3445G>T (p.Val1149Phe)	BTAF1 (V1149F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1174252	NM_003972.3(BTAF1):c.3511+160T>G	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2472387	NM_003972.3(BTAF1):c.3569C>T (p.Pro1190Leu)	BTAF1 (P1190L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558051	NM_003972.3(BTAF1):c.3599A>G (p.Asp1200Gly)	BTAF1 (D1200G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516701	NM_003972.3(BTAF1):c.3601A>G (p.Ser1201Gly)	BTAF1 (S1201G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135349	NM_003972.3(BTAF1):c.3635C>T (p.Thr1212Met)	BTAF1 (T1212M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1279399	NM_003972.3(BTAF1):c.3661-83G>A	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227637	NM_003972.3(BTAF1):c.3672A>G (p.Pro1224=)	BTAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3032136	NM_003972.3(BTAF1):c.3770A>G (p.Lys1257Arg)	BTAF1 (K1257R)	Single nucleotide variant (missense variant +1 more)	BTAF1-related disorder	GUncertain significance
Select item 3135350	NM_003972.3(BTAF1):c.3781C>G (p.Pro1261Ala)	BTAF1 (P1261A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310876	NM_003972.3(BTAF1):c.3784A>C (p.Ile1262Leu)	BTAF1 (I1262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1282442	NM_003972.3(BTAF1):c.3813+64G>C	BTAF1	Single nucleotide variant (intron variant)	not provided	GBenign

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