FAM186B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 2514457	NM_032130.3(FAM186B):c.2660G>A (p.Arg887Gln)	FAM186B (R887Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225313	NM_032130.3(FAM186B):c.2626C>T (p.Arg876Trp)	FAM186B (R876W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456359	NM_032130.3(FAM186B):c.2597T>C (p.Ile866Thr)	FAM186B (I866T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2041514	NM_032130.3(FAM186B):c.2592C>T (p.Tyr864=)	FAM186B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1605032	NM_032130.3(FAM186B):c.2556G>C (p.Glu852Asp)	FAM186B (E852D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1278850	NM_032130.3(FAM186B):c.2535-187A>G	FAM186B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974030	NM_032130.3(FAM186B):c.2534+5G>A	FAM186B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1601350	NM_032130.3(FAM186B):c.2533C>T (p.Arg845Cys)	FAM186B (R845C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1648584	NM_032130.3(FAM186B):c.2529G>A (p.Met843Ile)	FAM186B (M843I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2076378	NM_032130.3(FAM186B):c.2528T>C (p.Met843Thr)	FAM186B (M843T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1602150	NM_032130.3(FAM186B):c.2507G>A (p.Arg836Gln)	FAM186B (R836Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 729639	NM_032130.3(FAM186B):c.2453G>A (p.Arg818Gln)	FAM186B (R818Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1561511	NM_032130.3(FAM186B):c.2452C>T (p.Arg818Trp)	FAM186B (R818W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2391460	NM_032130.3(FAM186B):c.2411C>T (p.Ser804Leu)	FAM186B (S804L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1518570	NM_032130.3(FAM186B):c.2374G>T (p.Glu792Ter)	FAM186B (E792*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2088222	NM_032130.3(FAM186B):c.2364+13C>T	FAM186B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951865	NM_032130.3(FAM186B):c.2364+6C>T	FAM186B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3092186	NM_032130.3(FAM186B):c.2359C>G (p.Pro787Ala)	FAM186B (P787A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2413320	NM_032130.3(FAM186B):c.2326C>T (p.Arg776Ter)	FAM186B (R776*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1916417	NM_032130.3(FAM186B):c.2314GAG[1] (p.Glu773del)	FAM186B (E773del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3092185	NM_032130.3(FAM186B):c.2294C>T (p.Thr765Met)	FAM186B (T765M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489576	NM_032130.3(FAM186B):c.2219C>T (p.Ser740Phe)	FAM186B (S740F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713126	NM_032130.3(FAM186B):c.2210C>T (p.Thr737Met)	FAM186B (T737M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774327	NM_032130.3(FAM186B):c.2180C>T (p.Ala727Val)	FAM186B (A727V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1243969	NM_032130.3(FAM186B):c.2171+80A>G	FAM186B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1959858	NM_032130.3(FAM186B):c.2157C>G (p.Arg719=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3277317	NM_032130.3(FAM186B):c.2156G>A (p.Arg719His)	FAM186B (R719H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2055415	NM_032130.3(FAM186B):c.2135A>G (p.His712Arg)	FAM186B (H712R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2467451	NM_032130.3(FAM186B):c.2066G>A (p.Arg689His)	FAM186B (R689H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092184	NM_032130.3(FAM186B):c.2065C>T (p.Arg689Cys)	FAM186B (R689C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350305	NM_032130.3(FAM186B):c.2029A>G (p.Ser677Gly)	FAM186B (S677G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332393	NM_032130.3(FAM186B):c.2022G>T (p.Gln674His)	FAM186B (Q674H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607018	NM_032130.3(FAM186B):c.1982T>A (p.Val661Glu)	FAM186B (V661E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607017	NM_032130.3(FAM186B):c.1981G>A (p.Val661Met)	FAM186B (V661M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2419390	NM_032130.3(FAM186B):c.1972AAG[2] (p.Lys660del)	FAM186B (K660del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2330432	NM_032130.3(FAM186B):c.1966A>G (p.Asn656Asp)	FAM186B (N656D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533626	NM_032130.3(FAM186B):c.1958C>T (p.Ser653Phe)	FAM186B (S653F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2714343	NM_032130.3(FAM186B):c.1956A>G (p.Ile652Met)	FAM186B (I652M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2602074	NM_032130.3(FAM186B):c.1928G>A (p.Arg643Gln)	FAM186B (R643Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1576194	NM_032130.3(FAM186B):c.1927C>A (p.Arg643=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909342	NM_032130.3(FAM186B):c.1922C>T (p.Ser641Phe)	FAM186B (S641F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2233993	NM_032130.3(FAM186B):c.1890G>T (p.Lys630Asn)	FAM186B (K630N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1345449	NM_032130.3(FAM186B):c.1868G>A (p.Arg623His)	FAM186B (R623H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431131	NM_032130.3(FAM186B):c.1867C>T (p.Arg623Cys)	FAM186B (R623C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2610817	NM_032130.3(FAM186B):c.1852T>A (p.Tyr618Asn)	FAM186B (Y618N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734665	NM_032130.3(FAM186B):c.1790C>G (p.Ser597Cys)	FAM186B (S597C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1505288	NM_032130.3(FAM186B):c.1777C>T (p.His593Tyr)	FAM186B (H593Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2343146	NM_032130.3(FAM186B):c.1771A>T (p.Arg591Trp)	FAM186B (R591W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092182	NM_032130.3(FAM186B):c.1759C>T (p.His587Tyr)	FAM186B (H587Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1227271	NM_032130.3(FAM186B):c.1745G>A (p.Arg582Gln)	FAM186B (R582Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2372248	NM_032130.3(FAM186B):c.1744C>T (p.Arg582Trp)	FAM186B (R582W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366428	NM_032130.3(FAM186B):c.1741A>G (p.Ser581Gly)	FAM186B (S581G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2176264	NM_032130.3(FAM186B):c.1729G>A (p.Val577Met)	FAM186B (V577M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1234554	NM_032130.3(FAM186B):c.1657G>C (p.Glu553Gln)	FAM186B (E553Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3092181	NM_032130.3(FAM186B):c.1634G>A (p.Arg545Gln)	FAM186B (R545Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2719955	NM_032130.3(FAM186B):c.1633C>T (p.Arg545Trp)	FAM186B (R545W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3092180	NM_032130.3(FAM186B):c.1621C>G (p.Gln541Glu)	FAM186B (Q541E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1989019	NM_032130.3(FAM186B):c.1607A>G (p.Gln536Arg)	FAM186B (Q536R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732247	NM_032130.3(FAM186B):c.1603del (p.Val535fs)	FAM186B (V535fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2590168	NM_032130.3(FAM186B):c.1595G>A (p.Arg532Gln)	FAM186B (R532Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334172	NM_032130.3(FAM186B):c.1566T>A (p.Asn522Lys)	FAM186B (N522K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1439731	NM_032130.3(FAM186B):c.1513AAG[1] (p.Lys506del)	FAM186B (K506del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2383093	NM_032130.3(FAM186B):c.1508G>T (p.Arg503Leu)	FAM186B (R503L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597384	NM_032130.3(FAM186B):c.1466G>A (p.Arg489Gln)	FAM186B (R489Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2010588	NM_032130.3(FAM186B):c.1429G>A (p.Glu477Lys)	FAM186B (E477K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2277699	NM_032130.3(FAM186B):c.1418C>T (p.Ser473Phe)	FAM186B (S473F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211281	NM_032130.3(FAM186B):c.1418C>G (p.Ser473Cys)	FAM186B (S473C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1637564	NM_032130.3(FAM186B):c.1410G>A (p.Gln470=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3277320	NM_032130.3(FAM186B):c.1384C>A (p.Gln462Lys)	FAM186B (Q462K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1531252	NM_032130.3(FAM186B):c.1369T>G (p.Phe457Val)	FAM186B (F457V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2039127	NM_032130.3(FAM186B):c.1342_1360dup (p.Gln454fs)	FAM186B (Q454fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 787395	NM_032130.3(FAM186B):c.1281G>A (p.Lys427=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2901372	NM_032130.3(FAM186B):c.1273T>C (p.Phe425Leu)	FAM186B (F425L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2365374	NM_032130.3(FAM186B):c.1231G>A (p.Glu411Lys)	FAM186B (E411K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277321	NM_032130.3(FAM186B):c.1225G>A (p.Asp409Asn)	FAM186B (D409N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2201024	NM_032130.3(FAM186B):c.1204G>A (p.Ala402Thr)	FAM186B (A402T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2827857	NM_032130.3(FAM186B):c.1199G>C (p.Arg400Thr)	FAM186B (R400T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 784237	NM_032130.3(FAM186B):c.1192C>T (p.Arg398Cys)	FAM186B (R398C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2555027	NM_032130.3(FAM186B):c.1093G>A (p.Glu365Lys)	FAM186B (E365K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299088	NM_032130.3(FAM186B):c.1087A>G (p.Lys363Glu)	FAM186B (K363E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2869065	NM_032130.3(FAM186B):c.1038C>T (p.Thr346=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1467880	NM_032130.3(FAM186B):c.977G>A (p.Gly326Asp)	FAM186B (G326D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2488513	NM_032130.3(FAM186B):c.952C>G (p.Leu318Val)	FAM186B (L318V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280353	NM_032130.3(FAM186B):c.890T>C (p.Val297Ala)	FAM186B (V297A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224616	NM_032130.3(FAM186B):c.886C>G (p.Gln296Glu)	FAM186B (Q296E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735167	NM_032130.3(FAM186B):c.882G>A (p.Leu294=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1561416	NM_032130.3(FAM186B):c.804G>A (p.Ala268=)	FAM186B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2218602	NM_032130.3(FAM186B):c.803C>T (p.Ala268Val)	FAM186B (A268V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247357	NM_032130.3(FAM186B):c.765G>C (p.Arg255Ser)	FAM186B (R255S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3092190	NM_032130.3(FAM186B):c.745C>T (p.Leu249Phe)	FAM186B (L249F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557487	NM_032130.3(FAM186B):c.731A>G (p.Asn244Ser)	FAM186B (N244S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1907881	NM_032130.3(FAM186B):c.707T>G (p.Met236Arg)	FAM186B (M236R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017809	NM_032130.3(FAM186B):c.702G>T (p.Arg234Ser)	FAM186B (R234S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2206767	NM_032130.3(FAM186B):c.663C>A (p.Asp221Glu)	FAM186B (D221E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092189	NM_032130.3(FAM186B):c.655C>T (p.Leu219Phe)	FAM186B (L219F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1600123	NM_032130.3(FAM186B):c.638C>T (p.Thr213Met)	FAM186B (T213M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3277319	NM_032130.3(FAM186B):c.631G>A (p.Glu211Lys)	FAM186B (E211K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092188	NM_032130.3(FAM186B):c.545G>A (p.Ser182Asn)	FAM186B (S182N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551738	NM_032130.3(FAM186B):c.542G>A (p.Arg181Lys)	FAM186B (R181K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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