2266[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 369438	NM_000509.5(FGG):c.*216C>T	FGG	Single nucleotide variant	Congenital afibrinogenemia +1 more	GBenign
Select item 902203	NM_021870.3(FGG):c.*535A>G	FGG	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GLikely benign
Select item 902204	NM_021870.3(FGG):c.*500C>T	FGG	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 902205	NM_021870.3(FGG):c.*496A>C	FGG	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 902206	NM_021870.3(FGG):c.*494A>G	FGG	Single nucleotide variant (synonymous variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 347825	NM_021870.3(FGG):c.*488C>T	FGG	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136246	NM_021870.3(FGG):c.*480G>T	FGG (A434S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1250353	NM_021870.3(FGG):c.*441T>A	FGG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1271870	NM_021870.3(FGG):c.*291C>T	FGG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3336572	NM_021870.3(FGG):c.1320G>A (p.Ala440=)	FGG	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1695114	NM_021870.3(FGG):c.1319C>T (p.Ala440Val)	FGG (A440V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2585577	NM_021870.3(FGG):c.1300G>T (p.Val434Phe)	FGG (V434F)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 817223	NM_021870.3(FGG):c.1289dup (p.Ala431fs)	FGG (A431fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 347826	NM_021870.3(FGG):c.1285G>T (p.Gly429Trp)	FGG (G429W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2884084	NM_021870.3(FGG):c.1273C>A (p.Gln425Lys)	FGG (Q425K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903087	NM_021870.3(FGG):c.1258A>G (p.Ile420Val)	FGG (I420V)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 3257729	NM_021870.3(FGG):c.1242del (p.Phe415fs)	FGG (F415fs)	Deletion (frameshift variant)	Congenital afibrinogenemia +1 more	GLikely pathogenic
Select item 347827	NM_021870.3(FGG):c.1237A>G (p.Ile413Val)	FGG (I413V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 156105	NM_021870.3(FGG):c.1210T>C (p.Ser404Pro)	FGG (S404P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347490	NM_021870.3(FGG):c.1204T>A (p.Trp402Arg)	FGG (W402R)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
Select item 1098506	NM_021870.3(FGG):c.1202G>A (p.Arg401Gln)	FGG (R401Q)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 2572634	NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)	FGG (R401W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 16373	NM_021870.2(FGG):c.1201C>G (p.Arg401Gly)	FGG (R401G)	Single nucleotide variant (missense variant)	FIBRINOGEN OSAKA 5	Gother
Select item 2306997	NM_021870.3(FGG):c.1199C>G (p.Thr400Ser)	FGG (T400S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1684485	NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)	FGG (T397I)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2683318	NM_021870.3(FGG):c.1172A>T (p.Asn391Ile)	FGG (N391I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 16374	NM_021870.2(FGG):c.1168G>C (p.Asp390His)	FGG (D390H)	Single nucleotide variant (missense variant)	FIBRINOGEN MATSUMOTO 1	Gother
Select item 2211603	NM_021870.3(FGG):c.1147G>C (p.Ala383Pro)	FGG (A383P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682873	NM_021870.3(FGG):c.1138T>A (p.Tyr380Asn)	FGG (Y380N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573605	NM_021870.3(FGG):c.1130G>T (p.Gly377Val)	FGG (G377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1990018	NM_021870.3(FGG):c.1130-13C>T	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268953	NM_021870.3(FGG):c.1129+712G>A	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16371	FIBRINOGEN PARIS 1	FGG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1234766	NM_021870.3(FGG):c.1129+421G>A	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2203578	NM_021870.3(FGG):c.1129+66_1129+69del	FGG	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2169581	NM_021870.3(FGG):c.1129+64T>C	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 903088	NM_021870.3(FGG):c.1125C>T (p.Tyr375=)	FGG	Single nucleotide variant (synonymous variant)	Congenital afibrinogenemia	GUncertain significance
Select item 626970	NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)	FGG (A367T)	Single nucleotide variant (missense variant)	Hypofibrinogenemia +3 more	GConflicting classifications of pathogenicity
Select item 1703920	NM_021870.3(FGG):c.1087A>G (p.Asn363Asp)	FGG (N363D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163836	NM_021870.3(FGG):c.1086G>A (p.Met362Ile)	FGG (M362I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2664006	NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)	FGG (D356G)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 16370	NM_021870.2(FGG):c.1067A>T (p.Asp356Val)	FGG (D356V)	Single nucleotide variant (missense variant)	FIBRINOGEN MILANO 1	Gother
Select item 16369	NM_021870.2(FGG):c.1066G>T (p.Asp356Tyr)	FGG (D356Y)	Single nucleotide variant (missense variant)	FIBRINOGEN KYOTO 3	Gother
Select item 16368	NM_021870.2(FGG):c.1064A>G (p.Gln355Arg)	FGG (Q355R)	Single nucleotide variant (missense variant)	FIBRINOGEN NAGOYA 1	Gother
Select item 3251653	NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)	FGG (D346G)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 16367	FIBRINOGEN VLISSINGEN 1	FGG	Microsatellite (inframe_deletion)	FIBRINOGEN VLISSINGEN 1	Gother
Select item 2900696	NM_021870.3(FGG):c.1035T>C (p.Asn345=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032733	NM_021870.3(FGG):c.1033A>C (p.Asn345His)	FGG (N345H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664730	NM_021870.3(FGG):c.1030G>C (p.Asp344His)	FGG (D344H)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 521192	NM_021870.3(FGG):c.1030G>A (p.Asp344Asn)	FGG (D344N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 504885	NM_021870.3(FGG):c.1022G>A (p.Trp341Ter)	FGG (W341*)	Single nucleotide variant (nonsense)	Congenital afibrinogenemia	GPathogenic
Select item 1705951	NM_021870.3(FGG):c.1019C>T (p.Thr340Ile)	FGG (T340I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3346433	NM_021870.3(FGG):c.1015A>C (p.Ser339Arg)	FGG (S339R)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
Select item 2691347	NM_021870.3(FGG):c.1015A>G (p.Ser339Gly)	FGG (S339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16366	NM_021870.2(FGG):c.1007T>C (p.Met336Thr)	FGG (M336T)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +2 more	GPathogenic/Likely pathogenic
Select item 3366970	NM_021870.3(FGG):c.1006A>T (p.Met336Leu)	FGG (M336L)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 16364	FIBRINOGEN KYOTO 1	FGG (N334K)	Single nucleotide variant (missense variant)	FIBRINOGEN KYOTO 1	Gother
Select item 16365	NM_021870.2(FGG):c.1001A>T (p.Asn334Ile)	FGG (N334I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069435	NM_021870.3(FGG):c.966C>T (p.Gly322=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627163	NM_021870.3(FGG):c.963del (p.Phe321fs)	FGG (F321fs)	Deletion (frameshift variant)	Hypofibrinogenemia	GLikely pathogenic
Select item 16363	NM_021870.2(FGG):c.953G>T (p.Gly318Val)	FGG (G318V)	Single nucleotide variant (missense variant)	FGG-related disorder +1 more	GUncertain significance; other
Select item 627185	NM_021870.3(FGG):c.952G>A (p.Gly318Ser)	FGG (G318S)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GUncertain significance
Select item 16375	NM_021870.2(FGG):c.952G>C (p.Gly318Arg)	FGG (G318R)	Single nucleotide variant (missense variant)	FIBRINOGEN GIESSEN 4	Gother
Select item 16379	NM_021870.2(FGG):c.926G>A (p.Gly309Asp)	FGG (G309D)	Single nucleotide variant (missense variant)	FIBRINOGEN HILLSBOROUGH	Gother
Select item 2721577	NM_021870.3(FGG):c.922G>A (p.Ala308Thr)	FGG (A308T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2716774	NM_021870.3(FGG):c.921C>T (p.Phe307=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 16362	NM_021870.2(FGG):c.902G>A (p.Arg301His)	FGG (R301H)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +2 more	GPathogenic
Select item 2683325	NM_021870.3(FGG):c.901C>A (p.Arg301Ser)	FGG (R301S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16361	NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	FGG (R301C)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +2 more	GPathogenic/Likely pathogenic
Select item 3278687	NM_021870.3(FGG):c.895A>C (p.Lys299Gln)	FGG (K299Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655150	NM_021870.3(FGG):c.866C>T (p.Ala289Val)	FGG (A289V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177305	NM_021870.3(FGG):c.826C>T (p.Leu276=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684486	NM_021870.3(FGG):c.793C>T (p.Gln265Ter)	FGG (Q265*)	Single nucleotide variant (nonsense)	Afibrinogenemia	GUncertain significance
Select item 2633108	NM_021870.3(FGG):c.785T>A (p.Ile262Lys)	FGG (I262K)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
Select item 2900698	NM_021870.3(FGG):c.770A>C (p.Glu257Ala)	FGG (E257A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737737	NM_021870.3(FGG):c.768T>C (p.Asn256=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057893	NM_021870.3(FGG):c.720A>T (p.Gly240=)	FGG	Single nucleotide variant (synonymous variant)	FGG-related disorder	GLikely benign
Select item 432325	NM_021870.3(FGG):c.713A>G (p.Lys238Arg)	FGG (K238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676732	NM_021870.3(FGG):c.709T>C (p.Tyr237His)	FGG (Y237H)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GUncertain significance
Select item 1098507	NM_021870.3(FGG):c.700T>C (p.Trp234Arg)	FGG (W234R)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098508	NM_021870.3(FGG):c.694A>G (p.Lys232Glu)	FGG (K232E)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 2497803	NM_021870.3(FGG):c.691A>G (p.Lys231Glu)	FGG (K231E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049171	NM_021870.3(FGG):c.685G>A (p.Asp229Asn)	FGG (D229N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 899460	NM_021870.3(FGG):c.683T>C (p.Val228Ala)	FGG (V228A)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 626936	NM_021870.3(FGG):c.677G>T (p.Gly226Val)	FGG (G226V)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +1 more	GLikely pathogenic
Select item 3056268	NM_021870.3(FGG):c.674A>T (p.Asp225Val)	FGG (D225V)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
Select item 347828	NM_021870.3(FGG):c.667-10G>C	FGG	Single nucleotide variant (intron variant)	Congenital afibrinogenemia	GUncertain significance
Select item 16380	NM_021870.3(FGG):c.667-320A>T	FGG	Single nucleotide variant (intron variant)	Congenital afibrinogenemia	GPathogenic

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