ClinVar for Gene (Select 2243) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369493	NM_021871.4(FGA):c.1904C>A (p.Ser635Tyr)	FGA (S635Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366477	NM_021871.4(FGA):c.1700T>G (p.Ile567Arg)	FGA (I567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3361161	NM_021871.4(FGA):c.5T>C (p.Phe2Ser)	FGA (F2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358615	NM_000508.5(FGA):c.2234G>A (p.Gly745Asp)	FGA (G745D)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3358118	NM_000508.5(FGA):c.1904T>C (p.Val635Ala)	FGA (V635A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3356488	NM_021871.4(FGA):c.1541del (p.Pro514fs)	FGA (P514fs)	Deletion (frameshift variant)	FGA-related disorder	GPathogenic
Select item 3355964	NM_021871.4(FGA):c.1529G>A (p.Arg510His)	FGA (R510H)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3349365	NM_021871.4(FGA):c.934del (p.Ser312fs)	FGA (S312fs)	Deletion (frameshift variant)	FGA-related disorder	GLikely pathogenic
Select item 3347392	NM_021871.4(FGA):c.1179T>A (p.Phe393Leu)	FGA (F393L)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 3345110	NM_021871.4(FGA):c.161_166del (p.Phe54_Cys55del)	FGA	Deletion (inframe_deletion)	FGA-related disorder	GUncertain significance
Select item 3342526	NM_021871.4(FGA):c.95G>A (p.Gly32Glu)	FGA (G32E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342033	NM_021871.4(FGA):c.563T>C (p.Leu188Ser)	FGA (L188S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339804	NM_021871.4(FGA):c.1541C>G (p.Pro514Arg)	FGA (P514R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338289	NM_021871.4(FGA):c.541C>T (p.Arg181Ter)	FGA (R181*)	Single nucleotide variant (nonsense)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 3336575	NM_021871.4(FGA):c.40G>A (p.Val14Met)	FGA (V14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336062	NM_021871.4(FGA):c.1300G>C (p.Val434Leu)	FGA (V434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278575	NM_021871.4(FGA):c.52T>C (p.Trp18Arg)	FGA (W18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278574	NM_021871.4(FGA):c.1858A>G (p.Lys620Glu)	FGA (K620E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 3233974	NM_021871.4(FGA):c.263T>A (p.Leu88His)	FGA (L88H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3233910	NM_021871.4(FGA):c.345C>T (p.Gly115=)	FGA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3094591	NM_021871.4(FGA):c.559G>A (p.Ala187Thr)	FGA (A187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094590	NM_021871.4(FGA):c.553A>G (p.Ser185Gly)	FGA (S185G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094589	NM_000508.5(FGA):c.2439A>C (p.Gln813His)	FGA (Q813H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094588	NM_000508.5(FGA):c.2393A>C (p.Asn798Thr)	FGA (N798T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094587	NM_000508.5(FGA):c.2177T>C (p.Val726Ala)	FGA (V726A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094586	NM_021871.4(FGA):c.206G>A (p.Arg69Lys)	FGA (R69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094585	NM_021871.4(FGA):c.183C>A (p.Asn61Lys)	FGA (N61K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094584	NM_021871.4(FGA):c.1607T>C (p.Met536Thr)	FGA (M536T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094583	NM_021871.4(FGA):c.1535G>T (p.Arg512Met)	FGA (R512M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094582	NM_021871.4(FGA):c.1408A>G (p.Ile470Val)	FGA (I470V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094581	NM_021871.4(FGA):c.1061C>G (p.Pro354Arg)	FGA (P354R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094580	NM_021871.4(FGA):c.1010G>A (p.Gly337Glu)	FGA (G337E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068753	NC_000004.12:g.154586423_154590900dup	FGA	Duplication	not specified	GUncertain significance
Select item 3067217	NM_021871.4(FGA):c.1021A>C (p.Thr341Pro)	FGA (T341P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3051908	NM_000508.5(FGA):c.1989C>T (p.Cys663=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3048053	NM_021871.4(FGA):c.699T>C (p.Val233=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3039141	NM_000508.5(FGA):c.2185G>C (p.Glu729Gln)	FGA (E729Q)	Single nucleotide variant (missense variant)	FGA-related disorder	GLikely benign
Select item 3033182	NM_021871.4(FGA):c.435C>A (p.Val145=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3032276	NM_021871.4(FGA):c.702C>G (p.Pro234=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3031849	NM_021871.4(FGA):c.804G>A (p.Glu268=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2691433	NC_000004.11:g.(?_155506426)_(155511895_?)del	FGA	Deletion	Familial dysfibrinogenemia	GPathogenic
Select item 2691373	NM_021871.4(FGA):c.908G>A (p.Gly303Glu)	FGA (G303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2683312	NM_021871.4(FGA):c.163T>C (p.Cys55Arg)	FGA (C55R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2683308	NM_021871.4(FGA):c.1452del (p.Ser485fs)	FGA (S485fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2655149	NM_021871.4(FGA):c.1327A>C (p.Arg443=)	FGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636445	NM_021871.4(FGA):c.1895T>A (p.Ile632Asn)	FGA (I632N)	Single nucleotide variant (missense variant +1 more)	FGA-related disorder	GUncertain significance
Select item 2636392	NM_021871.4(FGA):c.107G>A (p.Gly36Asp)	FGA (G36D)	Single nucleotide variant (missense variant)	FGA-related disorder	GLikely pathogenic
Select item 2636219	NM_000508.5(FGA):c.2186A>C (p.Glu729Ala)	FGA (E729A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2636105	NM_000508.5(FGA):c.1898A>C (p.Asp633Ala)	FGA (D633A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2633970	NM_021871.4(FGA):c.878del (p.Gly293fs)	FGA (G293fs)	Deletion (frameshift variant)	FGA-related disorder	GLikely pathogenic
Select item 2632512	NM_021871.4(FGA):c.1330A>G (p.Thr444Ala)	FGA (T444A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2632481	NM_021871.4(FGA):c.1483_1495del (p.Met495fs)	FGA (M495fs)	Deletion (frameshift variant)	FGA-related disorder	GPathogenic
Select item 2631624	NM_021871.4(FGA):c.764C>T (p.Pro255Leu)	FGA (P255L)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2630904	NM_000508.5(FGA):c.2545G>T (p.Ala849Ser)	FGA (A849S)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2629531	NM_000508.5(FGA):c.2060G>A (p.Arg687Gln)	FGA (R687Q)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 2629213	NM_021871.4(FGA):c.359C>T (p.Ala120Val)	FGA (A120V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2620357	NM_000508.5(FGA):c.2149C>A (p.Leu717Ile)	FGA (L717I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611623	NM_000508.5(FGA):c.2314G>A (p.Glu772Lys)	FGA (E772K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606356	NM_021871.4(FGA):c.1606A>G (p.Met536Val)	FGA (M536V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572139	NM_021871.4(FGA):c.1754del (p.Ser585fs)	FGA (S585fs)	Deletion (frameshift variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 2554435	NM_021871.4(FGA):c.1808T>A (p.Met603Lys)	FGA (M603K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518830	NM_021871.4(FGA):c.761T>C (p.Met254Thr)	FGA (M254T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510418	NM_000508.5(FGA):c.2051A>C (p.Asn684Thr)	FGA (N684T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506047	NC_000004.11:g.(?_155506411)_(155510715_155511785)del	FGA	Deletion	Familial dysfibrinogenemia	GPathogenic
Select item 2506046	NM_021871.4(FGA):c.434T>A (p.Val145Asp)	FGA (V145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494207	NM_021871.4(FGA):c.897C>A (p.Ser299Arg)	FGA (S299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489123	NM_021871.4(FGA):c.839G>A (p.Gly280Glu)	FGA (G280E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478126	NM_000508.5(FGA):c.2293G>A (p.Ala765Thr)	FGA (A765T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474112	NM_021871.4(FGA):c.249C>A (p.Asn83Lys)	FGA (N83K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468111	NM_000508.5(FGA):c.2018T>C (p.Leu673Pro)	FGA (L673P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466504	NM_000508.5(FGA):c.2007G>T (p.Leu669Phe)	FGA (L669F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443134	NM_021871.4(FGA):c.928C>T (p.Pro310Ser)	FGA (P310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443133	NM_021871.4(FGA):c.28G>A (p.Val10Ile)	FGA (V10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441404	NM_021871.4(FGA):c.1880G>A (p.Arg627His)	FGA (R627H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385030	NM_000508.5(FGA):c.2340C>A (p.His780Gln)	FGA (H780Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381593	NM_021871.4(FGA):c.1082A>G (p.Asn361Ser)	FGA (N361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331287	NM_021871.4(FGA):c.763C>A (p.Pro255Thr)	FGA (P255T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330724	NM_000508.5(FGA):c.2159G>C (p.Arg720Thr)	FGA (R720T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314801	NM_021871.4(FGA):c.1058G>C (p.Arg353Thr)	FGA (R353T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299856	NM_021871.4(FGA):c.1474C>T (p.Pro492Ser)	FGA (P492S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293451	NM_021871.4(FGA):c.784G>A (p.Glu262Lys)	FGA (E262K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2287279	NM_021871.4(FGA):c.648A>T (p.Arg216Ser)	FGA (R216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276577	NM_021871.4(FGA):c.528G>C (p.Lys176Asn)	FGA (K176N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271584	NM_000508.5(FGA):c.2492A>G (p.Asn831Ser)	FGA (N831S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212458	NM_000508.5(FGA):c.2323G>A (p.Ala775Thr)	FGA (A775T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1879618	NM_021871.4(FGA):c.1670_1673del (p.Thr557fs)	FGA (T557fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1810290	GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3	DCHS2, FGA +5 more	Copy number gain	not provided	Gnot provided
Select item 1804824	NM_021871.4(FGA):c.341G>A (p.Arg114Lys)	FGA (R114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803153	NM_021871.4(FGA):c.713del (p.Lys238fs)	FGA (K238fs)	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GPathogenic/Likely pathogenic
Select item 1709728	NM_021871.4(FGA):c.1120A>G (p.Thr374Ala)	FGA (T374A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 1708440	NM_000508.5(FGA):c.1906dup (p.Leu636fs)	FGA (L636fs)	Duplication (frameshift variant)	See cases	GLikely pathogenic
Select item 1708420	NM_021871.4(FGA):c.475G>A (p.Val159Ile)	FGA (V159I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1708400	NM_021871.4(FGA):c.1048G>A (p.Gly350Arg)	FGA (G350R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1705040	NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)	FGA (W373*)	Single nucleotide variant (nonsense)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 1696375	NM_021871.4(FGA):c.448C>T (p.Gln150Ter)	FGA (Q150*)	Single nucleotide variant (nonsense)	Familial dysfibrinogenemia	GPathogenic

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