FSCB[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 149032	GRCh38/hg38 14q21.2(chr14:44283179-44978212)x3	C14orf28, FSCB +13 more	Copy number gain	See cases	GUncertain significance
Select item 149133	GRCh38/hg38 14q21.2(chr14:44479622-44772189)x1	FSCB, LINC02302 +1 more	Copy number loss	See cases	GUncertain significance
Select item 153093	GRCh38/hg38 14q21.2(chr14:44504286-44924259)x1	C14orf28, FSCB +5 more	Copy number loss	See cases	GBenign
Select item 2255428	NM_032135.4(FSCB):c.2444A>G (p.His815Arg)	FSCB (H815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097128	NM_032135.4(FSCB):c.2072C>T (p.Pro691Leu)	FSCB (P691L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097127	NM_032135.4(FSCB):c.2068A>G (p.Thr690Ala)	FSCB (T690A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776832	NM_032135.4(FSCB):c.2032_2067del (p.Ala678_Glu689del)	FSCB	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2309522	NM_032135.4(FSCB):c.2064G>T (p.Glu688Asp)	FSCB (E688D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768650	NM_032135.4(FSCB):c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC (p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro)	FSCB	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2379153	NM_032135.4(FSCB):c.2032G>A (p.Ala678Thr)	FSCB (A678T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341880	NM_032135.4(FSCB):c.2032G>T (p.Ala678Ser)	FSCB (A678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097126	NM_032135.4(FSCB):c.2021C>T (p.Pro674Leu)	FSCB (P674L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097125	NM_032135.4(FSCB):c.2014C>T (p.Pro672Ser)	FSCB (P672S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223069	NM_032135.4(FSCB):c.2014C>G (p.Pro672Ala)	FSCB (P672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279993	NM_032135.4(FSCB):c.2012A>G (p.Gln671Arg)	FSCB (Q671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097124	NM_032135.4(FSCB):c.2007A>T (p.Glu669Asp)	FSCB (E669D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279995	NM_032135.4(FSCB):c.2006A>G (p.Glu669Gly)	FSCB (E669G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220829	NM_032135.4(FSCB):c.1996G>A (p.Ala666Thr)	FSCB (A666T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279994	NM_032135.4(FSCB):c.1964C>T (p.Pro655Leu)	FSCB (P655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644196	NM_032135.4(FSCB):c.1905G>A (p.Gln635=)	FSCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280006	NM_032135.4(FSCB):c.1898A>G (p.Glu633Gly)	FSCB (E633G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279999	NM_032135.4(FSCB):c.1891C>T (p.Pro631Ser)	FSCB (P631S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549802	NM_032135.4(FSCB):c.1883A>C (p.Glu628Ala)	FSCB (E628A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224085	NM_032135.4(FSCB):c.1858G>A (p.Ala620Thr)	FSCB (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278976	NM_032135.4(FSCB):c.1846G>A (p.Glu616Lys)	FSCB (E616K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280004	NM_032135.4(FSCB):c.1837C>A (p.Pro613Thr)	FSCB (P613T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229781	NM_032135.4(FSCB):c.1810G>A (p.Glu604Lys)	FSCB (E604K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280000	NM_032135.4(FSCB):c.1782G>C (p.Gln594His)	FSCB (Q594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559238	NM_032135.4(FSCB):c.1738T>C (p.Ser580Pro)	FSCB (S580P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280005	NM_032135.4(FSCB):c.1562C>T (p.Ala521Val)	FSCB (A521V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715665	NM_032135.4(FSCB):c.1533A>G (p.Pro511=)	FSCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280002	NM_032135.4(FSCB):c.1517C>A (p.Ala506Asp)	FSCB (A506D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249907	NM_032135.4(FSCB):c.1492G>A (p.Glu498Lys)	FSCB (E498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464010	NM_032135.4(FSCB):c.1441G>A (p.Glu481Lys)	FSCB (E481K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371067	NM_032135.4(FSCB):c.1409C>T (p.Ala470Val)	FSCB (A470V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2307275	NM_032135.4(FSCB):c.1294G>T (p.Ala432Ser)	FSCB (A432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272805	NM_032135.4(FSCB):c.1261C>G (p.Leu421Val)	FSCB (L421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097123	NM_032135.4(FSCB):c.1243C>T (p.Pro415Ser)	FSCB (P415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097122	NM_032135.4(FSCB):c.1210G>A (p.Ala404Thr)	FSCB (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280001	NM_032135.4(FSCB):c.1174G>T (p.Ala392Ser)	FSCB (A392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607767	NM_032135.4(FSCB):c.1165G>A (p.Ala389Thr)	FSCB (A389T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525538	NM_032135.4(FSCB):c.1163C>T (p.Ser388Leu)	FSCB (S388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364737	NM_032135.4(FSCB):c.1154G>A (p.Arg385Gln)	FSCB (R385Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2372460	NM_032135.4(FSCB):c.1153C>T (p.Arg385Trp)	FSCB (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543156	NM_032135.4(FSCB):c.1138C>T (p.Leu380Phe)	FSCB (L380F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333898	NM_032135.4(FSCB):c.1081G>A (p.Glu361Lys)	FSCB (E361K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097120	NM_032135.4(FSCB):c.1076C>T (p.Pro359Leu)	FSCB (P359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464009	NM_032135.4(FSCB):c.1069G>C (p.Glu357Gln)	FSCB (E357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258271	NM_032135.4(FSCB):c.1042G>C (p.Ala348Pro)	FSCB (A348P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623313	NM_032135.4(FSCB):c.1028C>T (p.Ser343Phe)	FSCB (S343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590732	NM_032135.4(FSCB):c.917C>T (p.Ala306Val)	FSCB (A306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409966	NM_032135.4(FSCB):c.857C>T (p.Ala286Val)	FSCB (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463376	NM_032135.4(FSCB):c.751A>G (p.Lys251Glu)	FSCB (K251E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097131	NM_032135.4(FSCB):c.737G>T (p.Gly246Val)	FSCB (G246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097130	NM_032135.4(FSCB):c.674G>A (p.Gly225Asp)	FSCB (G225D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279997	NM_032135.4(FSCB):c.545T>G (p.Leu182Arg)	FSCB (L182R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210381	NM_032135.4(FSCB):c.526A>G (p.Lys176Glu)	FSCB (K176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228380	NM_032135.4(FSCB):c.524C>T (p.Thr175Ile)	FSCB (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593135	NM_032135.4(FSCB):c.505A>G (p.Arg169Gly)	FSCB (R169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781129	NM_032135.4(FSCB):c.420G>A (p.Trp140Ter)	FSCB (W140*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2313368	NM_032135.4(FSCB):c.407G>A (p.Arg136His)	FSCB (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280003	NM_032135.4(FSCB):c.385G>T (p.Asp129Tyr)	FSCB (D129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604943	NM_032135.4(FSCB):c.383T>A (p.Met128Lys)	FSCB (M128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279998	NM_032135.4(FSCB):c.370G>A (p.Val124Ile)	FSCB (V124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709937	NM_032135.4(FSCB):c.355C>T (p.Pro119Ser)	FSCB (P119S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616605	NM_032135.4(FSCB):c.325C>T (p.Pro109Ser)	FSCB (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529554	NM_032135.4(FSCB):c.293C>T (p.Ser98Leu)	FSCB (S98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773041	NM_032135.4(FSCB):c.273C>T (p.Thr91=)	FSCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097129	NM_032135.4(FSCB):c.214T>C (p.Ser72Pro)	FSCB (S72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283061	NM_032135.4(FSCB):c.95G>T (p.Gly32Val)	FSCB (G32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507685	NM_032135.4(FSCB):c.91A>G (p.Ile31Val)	FSCB (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208582	NM_032135.4(FSCB):c.74C>G (p.Pro25Arg)	FSCB (P25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2426634	NC_000014.8:g.(?_44820816)_(45645917_?)del	C14orf28, FANCM +5 more	Deletion	Fanconi anemia	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980487	GRCh37/hg19 14q21.2(chr14:44556606-44984689)x1	FSCB	Copy number loss	not provided	GLikely benign
Select item 815650	GRCh37/hg19 14q21.2(chr14:44750751-45024841)x1	FSCB	Copy number loss	not provided	GLikely benign
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395500	GRCh37/hg19 14q21.2(chr14:44623010-45083670)x3	FSCB	Copy number gain	See cases	GLikely benign
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 226242	GRCh37/hg19 14q21.2(chr14:44928342-45378475)	C14orf28, FSCB	Copy number loss	Abnormal esophagus morphology	GBenign

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Items: 92