2533[geneid] - 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	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +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	ACTBL2, ANKRD55 +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 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)	Inborn genetic diseases	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 condition	GLikely benign
Select item 2611427	NM_001465.6(FYB1):c.2357C>T (p.Thr786Ile)	FYB1 (T740I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459274	NM_001465.6(FYB1):c.2294C>T (p.Ser765Phe)	FYB1 (S729F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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 condition	GLikely benign
Select item 2655441	NM_001465.6(FYB1):c.1941G>A (p.Thr647=)	FYB1	Single nucleotide variant (synonymous variant +1 more)	FYB1-related condition +1 more	GLikely benign
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 condition	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 2655442	NM_001465.6(FYB1):c.1651T>C (p.Leu551=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655443	NM_001465.6(FYB1):c.1629A>G (p.Thr543=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039741	NM_001465.6(FYB1):c.1516-5T>C	FYB1	Single nucleotide variant (intron variant)	FYB1-related condition	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)	Inborn genetic diseases	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 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 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 condition	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 condition	GLikely benign
Select item 932616	NM_001465.6(FYB1):c.1154C>T (p.Thr385Met)	FYB1 (T385M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544669	NM_001465.6(FYB1):c.1152G>C (p.Gln384His)	FYB1 (Q394H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2458767	NM_001465.6(FYB1):c.1106C>G (p.Thr369Arg)	FYB1 (T379R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609916	NM_001465.6(FYB1):c.1022C>A (p.Thr341Asn)	FYB1 (T341N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GBenign
Select item 2531840	NM_001465.6(FYB1):c.961A>G (p.Thr321Ala)	FYB1 (T321A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +1 more	GUncertain significance
Select item 728945	NM_001465.6(FYB1):c.819A>C (p.Pro273=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3059425	NM_001465.6(FYB1):c.804G>A (p.Ala268=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related condition	GLikely benign
Select item 2537916	NM_001465.6(FYB1):c.743A>T (p.Lys248Ile)	FYB1 (K248I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537817	NM_001465.6(FYB1):c.685C>A (p.Leu229Met)	FYB1 (L239M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477681	NM_001465.6(FYB1):c.674C>A (p.Ser225Tyr)	FYB1 (S235Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042900	NM_001465.6(FYB1):c.606G>A (p.Pro202=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related condition	GLikely benign
Select item 2655444	NM_001465.6(FYB1):c.459G>A (p.Pro153=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591993	NM_001465.6(FYB1):c.423T>G (p.Ser141Arg)	FYB1 (S141R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037434	NM_001465.6(FYB1):c.410C>T (p.Pro137Leu)	FYB1 (P137L +1 more)	Single nucleotide variant (missense variant)	FYB1-related condition	GLikely benign
Select item 2441594	NM_001465.6(FYB1):c.405C>G (p.Asn135Lys)	FYB1 (N135K +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 3	GUncertain significance
Select item 417971	NM_001465.6(FYB1):c.393G>A (p.Trp131Ter)	FYB1 (W131* +1 more)	Single nucleotide variant (nonsense)	Thrombocytopenia 3	GPathogenic
Select item 2460648	NM_001465.6(FYB1):c.385T>C (p.Phe129Leu)	FYB1 (F129L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1296781	NM_001465.6(FYB1):c.374C>A (p.Ser125Tyr)	FYB1 (S125Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3033523	NM_001465.6(FYB1):c.290G>T (p.Ser97Ile)	FYB1 (S107I +1 more)	Single nucleotide variant (missense variant)	FYB1-related condition	GLikely benign
Select item 2571222	NM_001465.6(FYB1):c.243G>A (p.Pro81=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related condition +1 more	GLikely benign
Select item 3058681	NM_001465.6(FYB1):c.18G>A (p.Thr6=)	FYB1	Single nucleotide variant (synonymous variant)	FYB1-related condition	GLikely benign
Select item 560053	Single allele	C9, DAB2 +24 more	Deletion	not provided	GUncertain significance
Select item 1258151	NC_000005.10:g.39270928GT[12]	FYB1	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 1250729	NC_000005.10:g.39270928GT[13]	FYB1	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 1809312	GRCh37/hg19 5p13.1(chr5:38747296-39159120)x3	FYB1, OSMR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic

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