FYB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 1182755	NM_001465.6(FYB1):c.*192A>T	FYB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3097601	NM_001465.6(FYB1):c.2482A>T (p.Asn828Tyr)	FYB1 (N782Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097600	NM_001465.6(FYB1):c.2468G>A (p.Gly823Asp)	FYB1 (G777D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232537	NM_001465.6(FYB1):c.2468-316T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230439	NM_001465.6(FYB1):c.2467+24T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267008	NM_001465.6(FYB1):c.2467+11T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2558758	NM_001465.6(FYB1):c.2455G>A (p.Asp819Asn)	FYB1 (D819N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256832	NM_001465.6(FYB1):c.2435+44T>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1031985	NM_001465.6(FYB1):c.2434A>C (p.Asn812His)	FYB1 (N812H +3 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 3	GUncertain significance
Select item 3038884	NM_001465.6(FYB1):c.2412C>T (p.Val804=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3097598	NM_001465.6(FYB1):c.2389G>A (p.Glu797Lys)	FYB1 (E761K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097597	NM_001465.6(FYB1):c.2374G>T (p.Val792Phe)	FYB1 (V756F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611427	NM_001465.6(FYB1):c.2357C>T (p.Thr786Ile)	FYB1 (T740I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097596	NM_001465.6(FYB1):c.2350A>T (p.Ile784Leu)	FYB1 (I738L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459274	NM_001465.6(FYB1):c.2294C>T (p.Ser765Phe)	FYB1 (S729F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097595	NM_001465.6(FYB1):c.2290A>G (p.Thr764Ala)	FYB1 (T718A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278517	NM_001465.6(FYB1):c.2239-84A>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239268	NM_001465.6(FYB1):c.2239-106T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255116	NM_001465.6(FYB1):c.2238+76A>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280849	NM_001465.6(FYB1):c.2152G>T (p.Val718Phe)	FYB1 (V672F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2612024	NM_001465.6(FYB1):c.2136G>T (p.Met712Ile)	FYB1 (M676I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097594	NM_001465.6(FYB1):c.2075T>C (p.Met692Thr)	FYB1 (M656T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443135	NM_001465.6(FYB1):c.2068T>C (p.Leu690=)	FYB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1180183	NM_001465.6(FYB1):c.2046-128G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259044	NM_001465.6(FYB1):c.2046-213T>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258637	NM_001465.6(FYB1):c.2045+301C>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043812	NM_001465.6(FYB1):c.2000G>A (p.Arg667Gln)	FYB1 (R667Q +1 more)	Single nucleotide variant (missense variant +1 more)	FYB1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3097593	NM_001465.6(FYB1):c.1959G>C (p.Leu653Phe)	FYB1 (L663F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655441	NM_001465.6(FYB1):c.1941G>A (p.Thr647=)	FYB1	Single nucleotide variant (synonymous variant +1 more)	FYB1-related disorder +1 more	GLikely benign
Select item 3097592	NM_001465.6(FYB1):c.1928A>G (p.Glu643Gly)	FYB1 (E643G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 435272	NM_001465.6(FYB1):c.1922T>C (p.Val641Ala)	FYB1 (V641A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1267660	NM_001465.6(FYB1):c.1908-204del	FYB1	Deletion (intron variant)	not provided	GBenign
Select item 1291513	NM_001465.6(FYB1):c.1908-320C>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280383	NM_001465.6(FYB1):c.1907+268_1907+269dup	FYB1	Duplication (intron variant)	not provided	GBenign
Select item 1244446	NM_001465.6(FYB1):c.1907+290del	FYB1	Deletion (intron variant)	not provided	GBenign
Select item 1234107	NM_001465.6(FYB1):c.1907+140G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054911	NM_001465.6(FYB1):c.1906G>T (p.Gly636Cys)	FYB1 (G636C +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GLikely benign
Select item 1254818	NM_001465.6(FYB1):c.1841-51C>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240620	NM_001465.6(FYB1):c.1817+325A>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294076	NM_001465.6(FYB1):c.1817+291T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236804	NM_001465.6(FYB1):c.1817+141A>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287979	NM_001465.6(FYB1):c.1817+15G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288069	NM_001465.6(FYB1):c.1710C>T (p.Asp570=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1182503	NM_001465.6(FYB1):c.1676-151T>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232835	NM_001465.6(FYB1):c.1675+222G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3097591	NM_001465.6(FYB1):c.1669G>A (p.Gly557Ser)	FYB1 (G557S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655442	NM_001465.6(FYB1):c.1651T>C (p.Leu551=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097590	NM_001465.6(FYB1):c.1631A>G (p.Asp544Gly)	FYB1 (D554G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655443	NM_001465.6(FYB1):c.1629A>G (p.Thr543=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097589	NM_001465.6(FYB1):c.1559G>A (p.Cys520Tyr)	FYB1 (C520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097588	NM_001465.6(FYB1):c.1528A>T (p.Ile510Phe)	FYB1 (I520F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039741	NM_001465.6(FYB1):c.1516-5T>C	FYB1	Single nucleotide variant (intron variant)	FYB1-related disorder	GLikely benign
Select item 1289342	NM_001465.6(FYB1):c.1515+322T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2619238	NM_001465.6(FYB1):c.1397A>G (p.Glu466Gly)	FYB1 (E466G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288132	NM_001465.6(FYB1):c.1395-144C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252691	NM_001465.6(FYB1):c.1394+225A>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 417970	NM_001465.6(FYB1):c.1385_1386del (p.Thr461_Tyr462insTer)	FYB1	Microsatellite (nonsense)	Thrombocytopenia 3	GPathogenic
Select item 1263650	NM_001465.6(FYB1):c.1359+200A>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243862	NM_001465.6(FYB1):c.1359+159T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3097585	NM_001465.6(FYB1):c.1342G>T (p.Ala448Ser)	FYB1 (A448S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1181060	NM_001465.6(FYB1):c.1340-311T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272374	NM_001465.6(FYB1):c.1339+109T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3097584	NM_001465.6(FYB1):c.1304A>G (p.Asn435Ser)	FYB1 (N445S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1221624	NM_001465.6(FYB1):c.1296C>T (p.Ser432=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1251161	NM_001465.6(FYB1):c.1293-278A>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280050	NM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCT	FYB1	Insertion (intron variant)	not provided	GBenign
Select item 1228679	NM_001465.6(FYB1):c.1292+299C>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234245	NM_001465.6(FYB1):c.1292+21C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057548	NM_001465.6(FYB1):c.1281G>A (p.Pro427=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related disorder	GLikely benign
Select item 3038317	NM_001465.6(FYB1):c.1280C>T (p.Pro427Leu)	FYB1 (P427L +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GLikely benign
Select item 3097583	NM_001465.6(FYB1):c.1259C>T (p.Pro420Leu)	FYB1 (P420L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097582	NM_001465.6(FYB1):c.1190C>G (p.Pro397Arg)	FYB1 (P397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932616	NM_001465.6(FYB1):c.1154C>T (p.Thr385Met)	FYB1 (T385M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2544669	NM_001465.6(FYB1):c.1152G>C (p.Gln384His)	FYB1 (Q394H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294073	NM_001465.6(FYB1):c.1136-175C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294072	NM_001465.6(FYB1):c.1135+29T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778186	NM_001465.6(FYB1):c.1135+8C>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3097581	NM_001465.6(FYB1):c.1117A>G (p.Lys373Glu)	FYB1 (K373E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097580	NM_001465.6(FYB1):c.1106C>T (p.Thr369Met)	FYB1 (T369M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458767	NM_001465.6(FYB1):c.1106C>G (p.Thr369Arg)	FYB1 (T379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097579	NM_001465.6(FYB1):c.1083C>G (p.Asn361Lys)	FYB1 (N361K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097578	NM_001465.6(FYB1):c.1050G>T (p.Leu350Phe)	FYB1 (L360F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609916	NM_001465.6(FYB1):c.1022C>A (p.Thr341Asn)	FYB1 (T341N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778318	NM_001465.6(FYB1):c.995A>G (p.Lys332Arg)	FYB1 (K342R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3053173	NM_001465.6(FYB1):c.982C>A (p.Gln328Lys)	FYB1 (Q328K +1 more)	Single nucleotide variant (missense variant)	FYB1-related disorder	GBenign
Select item 2531840	NM_001465.6(FYB1):c.961A>G (p.Thr321Ala)	FYB1 (T321A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097615	NM_001465.6(FYB1):c.949C>G (p.Pro317Ala)	FYB1 (P317A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435271	NM_001465.6(FYB1):c.945G>T (p.Lys315Asn)	FYB1 (K315N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097614	NM_001465.6(FYB1):c.943A>G (p.Lys315Glu)	FYB1 (K325E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097612	NM_001465.6(FYB1):c.886C>A (p.Gln296Lys)	FYB1 (Q306K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097611	NM_001465.6(FYB1):c.823C>T (p.Leu275Phe)	FYB1 (L275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728945	NM_001465.6(FYB1):c.819A>C (p.Pro273=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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