ClinVar for Gene (Select 26233) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3513871	NM_012162.4(FBXL6):c.104C>T (p.Ser35Leu)	FBXL6, LOC130001388 (S35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513870	NM_012162.4(FBXL6):c.92C>T (p.Ala31Val)	FBXL6, LOC130001388 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513869	NM_012162.4(FBXL6):c.1593G>C (p.Gln531His)	FBXL6 (Q525H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513868	NM_012162.4(FBXL6):c.1051C>T (p.Pro351Ser)	FBXL6 (P351S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513867	NM_012162.4(FBXL6):c.944C>T (p.Pro315Leu)	FBXL6 (P315L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513866	NM_012162.4(FBXL6):c.1370T>G (p.Leu457Arg)	FBXL6 (L451R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513865	NM_012162.4(FBXL6):c.1295C>A (p.Pro432His)	FBXL6 (P426H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513864	NM_012162.4(FBXL6):c.1030C>A (p.Pro344Thr)	FBXL6 (P338T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513863	NM_012162.4(FBXL6):c.35G>C (p.Arg12Thr)	LOC130001388, FBXL6 (R12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3513862	NM_012162.4(FBXL6):c.1031C>T (p.Pro344Leu)	FBXL6 (P338L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391849	GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3	MROH1, MROH5 +173 more	Copy number gain	not provided	GPathogenic
Select item 3384214	Single allele	LOC113788267, LOC121331313 +289 more	Duplication	Recombinant 8 syndrome	GLikely pathogenic
Select item 3278068	NM_012162.4(FBXL6):c.1145G>A (p.Gly382Asp)	FBXL6 (G376D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278067	NM_012162.4(FBXL6):c.361G>T (p.Val121Leu)	FBXL6 (V121L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278066	NM_012162.4(FBXL6):c.1156C>G (p.Leu386Val)	FBXL6 (L380V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278065	NM_012162.4(FBXL6):c.1492C>T (p.Pro498Ser)	FBXL6 (P492S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3093562	NM_012162.4(FBXL6):c.824G>A (p.Arg275His)	FBXL6 (R269H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093561	NM_012162.4(FBXL6):c.718A>G (p.Met240Val)	FBXL6 (M234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093560	NM_012162.4(FBXL6):c.694G>A (p.Gly232Ser)	FBXL6 (G226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093559	NM_012162.4(FBXL6):c.628C>T (p.Pro210Ser)	FBXL6 (P210S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093557	NM_012162.4(FBXL6):c.521G>C (p.Gly174Ala)	FBXL6 (G174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093556	NM_012162.4(FBXL6):c.464C>T (p.Ala155Val)	FBXL6 (A155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093555	NM_012162.4(FBXL6):c.389C>T (p.Ala130Val)	FBXL6 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093554	NM_012162.4(FBXL6):c.298A>G (p.Thr100Ala)	FBXL6 (T100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093553	NM_012162.4(FBXL6):c.239A>C (p.Lys80Thr)	FBXL6, LOC130001388 (K80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093552	NM_012162.4(FBXL6):c.203C>T (p.Pro68Leu)	FBXL6, LOC130001388 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093551	NM_012162.4(FBXL6):c.166C>T (p.Arg56Trp)	FBXL6, LOC130001388 (R56W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093550	NM_012162.4(FBXL6):c.1505A>G (p.Tyr502Cys)	FBXL6 (Y496C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093549	NM_012162.4(FBXL6):c.1499T>G (p.Leu500Arg)	FBXL6 (L500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093547	NM_012162.4(FBXL6):c.1000C>T (p.Arg334Trp)	FBXL6 (R328W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	ANXA13, AARD +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658981	NM_012162.4(FBXL6):c.662G>T (p.Arg221Leu)	FBXL6, SLC52A2 (R215L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658980	NM_012162.4(FBXL6):c.753G>A (p.Leu251=)	FBXL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613871	NM_012162.4(FBXL6):c.25G>A (p.Val9Ile)	FBXL6 (V9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613535	NM_012162.4(FBXL6):c.1175G>A (p.Arg392His)	FBXL6 (R386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596782	NM_012162.4(FBXL6):c.1516G>A (p.Glu506Lys)	FBXL6 (E506K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588970	NM_012162.4(FBXL6):c.1451G>A (p.Arg484Gln)	FBXL6 (R484Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559235	NM_012162.4(FBXL6):c.361G>A (p.Val121Met)	FBXL6 (V121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557300	NM_012162.4(FBXL6):c.1287G>C (p.Glu429Asp)	FBXL6 (E423D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548422	NM_012162.4(FBXL6):c.284C>A (p.Pro95His)	FBXL6 (P95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536954	NM_012162.4(FBXL6):c.922G>A (p.Gly308Ser)	FBXL6 (G302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510351	NM_012162.4(FBXL6):c.1345G>A (p.Gly449Ser)	FBXL6 (G443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409159	NM_012162.4(FBXL6):c.1001G>A (p.Arg334Gln)	FBXL6 (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409056	NM_012162.4(FBXL6):c.193C>T (p.Arg65Cys)	FBXL6, LOC130001388 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406000	NM_012162.4(FBXL6):c.818G>A (p.Arg273Gln)	FBXL6 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405324	NM_012162.4(FBXL6):c.277C>T (p.Pro93Ser)	FBXL6 (P93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390098	NM_012162.4(FBXL6):c.1396A>G (p.Ser466Gly)	FBXL6 (S460G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386312	NM_012162.4(FBXL6):c.1292G>A (p.Ser431Asn)	FBXL6 (S425N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382846	NM_012162.4(FBXL6):c.1558C>T (p.Arg520Trp)	FBXL6 (R514W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379925	NM_012162.4(FBXL6):c.1453G>A (p.Val485Ile)	FBXL6 (V479I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377914	NM_012162.4(FBXL6):c.1034C>T (p.Pro345Leu)	FBXL6 (P339L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368001	NM_012162.4(FBXL6):c.1267C>T (p.Arg423Trp)	FBXL6 (R417W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363071	NM_012162.4(FBXL6):c.1034C>A (p.Pro345Gln)	FBXL6 (P339Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360466	NM_012162.4(FBXL6):c.308C>T (p.Pro103Leu)	FBXL6 (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356346	NM_012162.4(FBXL6):c.1259C>T (p.Thr420Met)	FBXL6 (T420M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348313	NM_012162.4(FBXL6):c.1222C>T (p.Arg408Trp)	FBXL6 (R402W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343292	NM_012162.4(FBXL6):c.40C>T (p.Arg14Trp)	FBXL6, LOC130001388 (R14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335696	NM_012162.4(FBXL6):c.250G>A (p.Gly84Arg)	FBXL6, LOC130001388 (G84R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330273	NM_012162.4(FBXL6):c.610T>C (p.Trp204Arg)	FBXL6 (W204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291472	NM_012162.4(FBXL6):c.1553C>T (p.Ala518Val)	FBXL6 (A512V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290477	NM_012162.4(FBXL6):c.1184C>T (p.Ala395Val)	FBXL6 (A389V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285082	NM_012162.4(FBXL6):c.1343G>A (p.Ser448Asn)	FBXL6 (S442N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282299	NM_012162.4(FBXL6):c.952C>G (p.Leu318Val)	FBXL6 (L312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268954	NM_012162.4(FBXL6):c.824G>T (p.Arg275Leu)	FBXL6 (R269L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265603	NM_012162.4(FBXL6):c.1613C>G (p.Pro538Arg)	FBXL6 (P532R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264942	NM_012162.4(FBXL6):c.1450C>T (p.Arg484Trp)	FBXL6 (R484W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244209	NM_012162.4(FBXL6):c.110A>G (p.Tyr37Cys)	FBXL6, LOC130001388 (Y37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222181	NM_012162.4(FBXL6):c.1186C>T (p.Arg396Cys)	FBXL6 (R396C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220442	NM_012162.4(FBXL6):c.1556A>G (p.Tyr519Cys)	FBXL6 (Y519C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205425	NM_012162.4(FBXL6):c.1235A>G (p.Gln412Arg)	FBXL6 (Q412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	ADGRB1, ADHFE1 +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	TONSL, VPS28 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 980336	GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3	MIR1234, PPP1R16A +19 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815179	GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3	ADCK5, BOP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	ADCK5, BOP1 +28 more	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	ADCK5, BOP1 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic

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