BCLAF1[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 58446	GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1	AHI1, AHI1-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 402419	NM_014739.3(BCLAF1):c.2743C>T (p.Arg915Cys)	BCLAF1 (R915C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 402420	NM_014739.3(BCLAF1):c.2663C>A (p.Thr888Asn)	BCLAF1 (T888N +11 more)	Single nucleotide variant (missense variant +1 more)	BCLAF1-related disorder +1 more	GBenign
Select item 3039027	NM_014739.3(BCLAF1):c.2648G>A (p.Ser883Asn)	BCLAF1 (S482N +11 more)	Single nucleotide variant (missense variant +1 more)	BCLAF1-related disorder	GLikely benign
Select item 402424	NM_014739.3(BCLAF1):c.2397+1G>C	BCLAF1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3049154	NM_014739.3(BCLAF1):c.2290C>A (p.Arg764=)	BCLAF1	Single nucleotide variant (synonymous variant +1 more)	BCLAF1-related disorder	GLikely benign
Select item 2224552	NM_014739.3(BCLAF1):c.2288C>T (p.Ser763Phe)	BCLAF1 (S588F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393011	NM_014739.3(BCLAF1):c.2282C>T (p.Pro761Leu)	BCLAF1 (P588L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403463	NM_014739.3(BCLAF1):c.2272C>T (p.Pro758Ser)	BCLAF1 (P757S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402421	NM_014739.3(BCLAF1):c.2272C>A (p.Pro758Thr)	BCLAF1 (P758T +6 more)	Single nucleotide variant (missense variant +1 more)	BCLAF1-related disorder +1 more	GBenign/Likely benign
Select item 1787269	NM_014739.3(BCLAF1):c.2181A>G (p.Pro727=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3059178	NM_014739.3(BCLAF1):c.2154T>G (p.Ser718Arg)	BCLAF1 (S543R +5 more)	Single nucleotide variant (missense variant +2 more)	BCLAF1-related disorder	GBenign
Select item 402422	NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His)	BCLAF1 (R699H +5 more)	Single nucleotide variant (missense variant +2 more)	BCLAF1-related disorder +1 more	GBenign
Select item 1785587	NM_014739.3(BCLAF1):c.2082G>A (p.Arg694=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3038255	NM_014739.3(BCLAF1):c.2044-3_2044-2insCAAA	BCLAF1	Insertion (intron variant)	BCLAF1-related disorder	GLikely benign
Select item 3133512	NM_014739.3(BCLAF1):c.2040A>C (p.Gln680His)	BCLAF1 (Q505H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133511	NM_014739.3(BCLAF1):c.2021T>C (p.Val674Ala)	BCLAF1 (V500A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609423	NM_014739.3(BCLAF1):c.1954C>A (p.His652Asn)	BCLAF1 (H650N +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2233012	NM_014739.3(BCLAF1):c.1940A>G (p.Lys647Arg)	BCLAF1 (K472R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 750536	NM_014739.3(BCLAF1):c.1923A>G (p.Glu641=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 748447	NM_014739.3(BCLAF1):c.1887C>T (p.Asn629=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2247660	NM_014739.3(BCLAF1):c.1876A>G (p.Met626Val)	BCLAF1 (M453V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1781023	NM_014739.3(BCLAF1):c.1834T>G (p.Leu612Val)	BCLAF1 (L439V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385045	NM_014739.3(BCLAF1):c.1832C>T (p.Ser611Phe)	BCLAF1 (S436F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1778484	NM_014739.3(BCLAF1):c.1707G>C (p.Arg569Ser)	BCLAF1 (R567S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1777423	NM_014739.3(BCLAF1):c.1659T>C (p.Pro553=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3133510	NM_014739.3(BCLAF1):c.1630C>T (p.Arg544Cys)	BCLAF1 (R542C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256481	NM_014739.3(BCLAF1):c.1622A>C (p.Asp541Ala)	BCLAF1 (D368A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537870	NM_014739.3(BCLAF1):c.1555C>A (p.Leu519Met)	BCLAF1 (L346M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496436	NM_014739.3(BCLAF1):c.1464A>G (p.Ile488Met)	BCLAF1 (I486M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377528	NM_014739.3(BCLAF1):c.1424A>G (p.Lys475Arg)	BCLAF1 (K473R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1771799	NM_014739.3(BCLAF1):c.1401A>G (p.Val467=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1770280	NM_014739.3(BCLAF1):c.1338C>A (p.Gly446=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1769891	NM_014739.3(BCLAF1):c.1320C>A (p.Ser440=)	BCLAF1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2373874	NM_014739.3(BCLAF1):c.1286G>A (p.Arg429Gln)	BCLAF1 (R429Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341616	NM_014739.3(BCLAF1):c.1196G>A (p.Gly399Glu)	BCLAF1 (G397E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133508	NM_014739.3(BCLAF1):c.1178A>G (p.Lys393Arg)	BCLAF1 (K391R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133506	NM_014739.3(BCLAF1):c.1039G>C (p.Val347Leu)	BCLAF1 (V345L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1790090	NM_014739.3(BCLAF1):c.1008C>A (p.Phe336Leu)	BCLAF1 (F336L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458176	NM_014739.3(BCLAF1):c.982C>A (p.Gln328Lys)	BCLAF1 (Q328K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1767759	NM_014739.3(BCLAF1):c.967C>A (p.Pro323Thr)	BCLAF1 (P321T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1766982	NM_014739.3(BCLAF1):c.944C>A (p.Ser315Tyr)	BCLAF1 (S313Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1766806	NM_014739.3(BCLAF1):c.939T>G (p.Asp313Glu)	BCLAF1 (D311E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133517	NM_014739.3(BCLAF1):c.929C>T (p.Ala310Val)	BCLAF1 (A310V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696857	NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser)	BCLAF1 (R269S +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 3024809	NM_014739.3(BCLAF1):c.744C>T (p.Leu248=)	BCLAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3133516	NM_014739.3(BCLAF1):c.694A>G (p.Ile232Val)	BCLAF1 (I230V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455768	NM_014739.3(BCLAF1):c.682A>C (p.Ser228Arg)	BCLAF1 (S226R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402423	NM_014739.3(BCLAF1):c.628G>A (p.Gly210Ser)	BCLAF1 (G210S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign/Likely benign
Select item 2656928	NM_014739.3(BCLAF1):c.597C>T (p.Ile199=)	BCLAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656929	NM_014739.3(BCLAF1):c.525A>G (p.Glu175=)	BCLAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1696847	NM_014739.3(BCLAF1):c.493C>A (p.Gln165Lys)	BCLAF1 (Q163K +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 3133515	NM_014739.3(BCLAF1):c.476G>A (p.Arg159Gln)	BCLAF1 (R157Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133514	NM_014739.3(BCLAF1):c.433C>T (p.Arg145Cys)	BCLAF1 (R145C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1737102	NM_014739.3(BCLAF1):c.401G>T (p.Arg134Ile)	BCLAF1 (R132I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133513	NM_014739.3(BCLAF1):c.398A>G (p.Tyr133Cys)	BCLAF1 (Y131C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386653	NM_014739.3(BCLAF1):c.392G>A (p.Arg131Gln)	BCLAF1 (R129Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391278	NM_014739.3(BCLAF1):c.358G>T (p.Val120Phe)	BCLAF1 (V118F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388021	NM_014739.3(BCLAF1):c.332G>A (p.Arg111His)	BCLAF1 (R109H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489521	NM_014739.3(BCLAF1):c.275G>T (p.Gly92Val)	BCLAF1 (G90V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379575	NM_014739.3(BCLAF1):c.248G>T (p.Gly83Val)	BCLAF1 (G81V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405345	NM_014739.3(BCLAF1):c.200T>C (p.Met67Thr)	BCLAF1 (M65T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133509	NM_014739.3(BCLAF1):c.152G>A (p.Arg51His)	BCLAF1 (R49H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1771725	NM_014739.3(BCLAF1):c.139C>T (p.Arg47Cys)	BCLAF1 (R45C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559143	NM_014739.3(BCLAF1):c.106T>C (p.Ser36Pro)	BCLAF1 (S36P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222340	NM_014739.3(BCLAF1):c.100T>C (p.Tyr34His)	BCLAF1 (Y34H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974694	NM_014739.3(BCLAF1):c.-114-2_-114-1insC	BCLAF1	Insertion (splice acceptor variant)	Fraser syndrome 3	GUncertain significance
Select item 870145	NM_014739.3(BCLAF1):c.-114-2_-114-1insTCGGCGTGTC	BCLAF1	Insertion (splice acceptor variant)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	MTFR2, PDE7B +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 85