2243[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	See cases	GPathogenic
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 16414	NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del	FGA	Deletion	Congenital afibrinogenemia	GPathogenic
Select item 1252841	NM_000508.5(FGA):c.*328C>T	FGA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 256327	NM_000508.5(FGA):c.7_34dup	FGA	Duplication (3 prime UTR variant)	not specified +1 more	GBenign
Select item 802094	NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer)	FGA	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 256329	NM_000508.5(FGA):c.2586C>T (p.Pro862=)	FGA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1098471	NM_000508.5(FGA):c.2527T>C (p.Trp843Arg)	FGA (W843R)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	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 3094589	NM_000508.5(FGA):c.2439A>C (p.Gln813His)	FGA (Q813H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 591794	NM_000508.5(FGA):c.2434T>C (p.Cys812Arg)	FGA (C812R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309523	NM_000508.5(FGA):c.2414G>C (p.Gly805Ala)	FGA (G805A)	Single nucleotide variant (missense variant)	not provided	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 1098472	NM_000508.5(FGA):c.2372A>T (p.Asp791Val)	FGA (D791V)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1301542	NM_000508.5(FGA):c.2350C>T (p.Gln784Ter)	FGA (Q784*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type +2 more	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 2212458	NM_000508.5(FGA):c.2323G>A (p.Ala775Thr)	FGA (A775T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2478126	NM_000508.5(FGA):c.2293G>A (p.Ala765Thr)	FGA (A765T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714088	NM_000508.5(FGA):c.2244T>C (p.Ala748=)	FGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2636219	NM_000508.5(FGA):c.2186A>C (p.Glu729Ala)	FGA (E729A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
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 3094587	NM_000508.5(FGA):c.2177T>C (p.Val726Ala)	FGA (V726A)	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 1098473	NM_000508.5(FGA):c.2155del (p.Gln719fs)	FGA (Q719fs)	Deletion (frameshift variant)	Congenital afibrinogenemia	GPathogenic
Select item 591547	NM_000508.5(FGA):c.2153C>A (p.Thr718Asn)	FGA (T718N)	Single nucleotide variant (missense variant)	not provided	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 1098474	NM_000508.5(FGA):c.2128G>A (p.Gly710Ser)	FGA (G710S)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1684742	NM_000508.5(FGA):c.2113G>T (p.Gly705Ter)	FGA (G705*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 523628	NM_000508.5(FGA):c.2089G>A (p.Gly697Ser)	FGA (G697S)	Single nucleotide variant (missense variant)	FGA-related disorder +1 more	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 2510418	NM_000508.5(FGA):c.2051A>C (p.Asn684Thr)	FGA (N684T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098476	NM_000508.5(FGA):c.2024T>C (p.Ile675Thr)	FGA (I675T)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098475	NM_000508.5(FGA):c.2024T>G (p.Ile675Ser)	FGA (I675S)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098477	NM_000508.5(FGA):c.2021T>C (p.Leu674Ser)	FGA (L674S)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	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 3051908	NM_000508.5(FGA):c.1989C>T (p.Cys663=)	FGA	Single nucleotide variant (synonymous variant)	FGA-related disorder	GLikely benign
Select item 1708440	NM_000508.5(FGA):c.1906dup (p.Leu636fs)	FGA (L636fs)	Duplication (frameshift variant)	See cases	GLikely pathogenic
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 2636105	NM_000508.5(FGA):c.1898A>C (p.Asp633Ala)	FGA (D633A)	Single nucleotide variant (missense variant)	FGA-related disorder	GUncertain significance
Select item 902097	NM_021871.4(FGA):c.*133G>A	FGA	Single nucleotide variant (3 prime UTR variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 347806	NM_021871.4(FGA):c.*50T>G	FGA	Single nucleotide variant (3 prime UTR variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 1098478	NM_021871.4(FGA):c.1930C>G (p.Pro644Ala)	FGA (P644A)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 902973	NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)	FGA (P640A)	Single nucleotide variant (missense variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 1098479	NM_021871.4(FGA):c.1915A>G (p.Lys639Glu)	FGA (K639E)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 902974	NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)	FGA (G638R)	Single nucleotide variant (missense variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
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 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 2441404	NM_021871.4(FGA):c.1880G>A (p.Arg627His)	FGA (R627H)	Single nucleotide variant (missense variant)	not provided	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 347807	NM_021871.4(FGA):c.1838A>G (p.His613Arg)	FGA (H613R)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 1338165	NM_021871.4(FGA):c.1833C>T (p.Ala611=)	FGA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1335568	NM_021871.4(FGA):c.1827del (p.Ser609fs)	FGA (S609fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 347808	NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)	FGA (G608A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
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 693992	NM_021871.4(FGA):c.1760C>G (p.Thr587Arg)	FGA (T587R)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 2572139	NM_021871.4(FGA):c.1754del (p.Ser585fs)	FGA (S585fs)	Deletion (frameshift variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 3380987	NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)	FGA (Y579*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 900380	NM_021871.4(FGA):c.1718G>A (p.Arg573His)	FGA (R573H)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 16408	NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)	FGA (R573L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16411	NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)	FGA (R573C)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +3 more	GLikely pathogenic
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 1333679	NM_021871.4(FGA):c.1690_1699dup (p.Ile567fs)	FGA (I567fs)	Duplication (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GLikely pathogenic
Select item 1879618	NM_021871.4(FGA):c.1670_1673del (p.Thr557fs)	FGA (T557fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1322897	NM_021871.4(FGA):c.1653del (p.Gly552fs)	FGA (G552fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 16410	NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	FGA (E545V)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +3 more	GPathogenic
Select item 16413	NM_021871.4(FGA):c.1629del (p.Thr544fs)	FGA (T544fs)	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GPathogenic
Select item 16409	NM_021871.4(FGA):c.1622del (p.Val541fs)	FGA (V541fs)	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GPathogenic
Select item 802095	NM_021871.4(FGA):c.1621G>C (p.Val541Leu)	FGA (V541L)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 932910	NM_021871.4(FGA):c.1615G>A (p.Glu539Lys)	FGA (E539K)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	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 2606356	NM_021871.4(FGA):c.1606A>G (p.Met536Val)	FGA (M536V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756297	NM_021871.4(FGA):c.1560C>T (p.Phe520=)	FGA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 347809	NM_021871.4(FGA):c.1542T>C (p.Pro514=)	FGA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3356488	NM_021871.4(FGA):c.1541del (p.Pro514fs)	FGA (P514fs)	Deletion (frameshift variant)	FGA-related disorder	GPathogenic
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 3094583	NM_021871.4(FGA):c.1535G>T (p.Arg512Met)	FGA (R512M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3383098	NM_021871.4(FGA):c.1517del (p.Leu506fs)	FGA (L506fs)	Deletion (frameshift variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 2632481	NM_021871.4(FGA):c.1483_1495del (p.Met495fs)	FGA (M495fs)	Deletion (frameshift variant)	FGA-related disorder	GPathogenic
Select item 1684429	NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)	FGA (D496Y)	Single nucleotide variant (missense variant)	Afibrinogenemia	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 627244	NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr)	FGA (C491Y)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GLikely pathogenic
Select item 1098503	NM_021871.4(FGA):c.1470C>G (p.Asp490Glu)	FGA (D490E)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098504	NM_021871.4(FGA):c.1463G>A (p.Gly488Asp)	FGA (G488D)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 3379563	NM_021871.4(FGA):c.1456G>A (p.Glu486Lys)	FGA (E486K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683308	NM_021871.4(FGA):c.1452del (p.Ser485fs)	FGA (S485fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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