ClinVar for Gene (Select 2266) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 178

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3347490	NM_021870.3(FGG):c.1204T>A (p.Trp402Arg)	FGG (W402R)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
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 3336572	NM_021870.3(FGG):c.1320G>A (p.Ala440=)	FGG	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3278688	NM_021870.3(FGG):c.310A>G (p.Met104Val)	FGG (M104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3278685	NM_021870.3(FGG):c.460G>C (p.Val154Leu)	FGG (V154L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3251653	NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)	FGG (D346G)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
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 3094827	NM_021870.3(FGG):c.583A>C (p.Ile195Leu)	FGG (I195L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094825	NM_021870.3(FGG):c.212A>T (p.Asp71Val)	FGG (D71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3058771	NM_021870.3(FGG):c.75A>T (p.Val25=)	FGG	Single nucleotide variant (synonymous variant)	FGG-related disorder	GLikely benign
Select item 3057928	NM_021870.3(FGG):c.459G>A (p.Lys153=)	FGG	Single nucleotide variant (synonymous variant)	FGG-related disorder	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 3056268	NM_021870.3(FGG):c.674A>T (p.Asp225Val)	FGG (D225V)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2911234	NM_021870.3(FGG):c.189C>G (p.Asp63Glu)	FGG (D63E)	Single nucleotide variant (missense variant)	not provided	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 2900696	NM_021870.3(FGG):c.1035T>C (p.Asn345=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899465	NM_021870.3(FGG):c.6T>C (p.Ser2=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887738	NM_021870.3(FGG):c.572G>A (p.Gly191Glu)	FGG (G191E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886965	NM_021870.3(FGG):c.260T>C (p.Ile87Thr)	FGG (I87T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885906	NM_021870.3(FGG):c.653C>T (p.Thr218Ile)	FGG (T218I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884439	NM_021870.3(FGG):c.33T>A (p.Ile11=)	FGG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2691431	NC_000004.11:g.(?_155525322)_(155533809_?)del	FGG	Deletion	Familial dysfibrinogenemia	GPathogenic
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 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	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 2683318	NM_021870.3(FGG):c.1172A>T (p.Asn391Ile)	FGG (N391I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2664730	NM_021870.3(FGG):c.1030G>C (p.Asp344His)	FGG (D344H)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	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 2655151	NM_021870.3(FGG):c.533-17C>T	FGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2633108	NM_021870.3(FGG):c.785T>A (p.Ile262Lys)	FGG (I262K)	Single nucleotide variant (missense variant)	FGG-related disorder	GUncertain significance
Select item 2615859	NM_021870.3(FGG):c.184G>A (p.Val62Ile)	FGG (V62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594370	NM_021870.3(FGG):c.275T>C (p.Leu92Pro)	FGG (L92P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2573605	NM_021870.3(FGG):c.1130G>T (p.Gly377Val)	FGG (G377V)	Single nucleotide variant (missense variant)	not specified	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 2497803	NM_021870.3(FGG):c.691A>G (p.Lys231Glu)	FGG (K231E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469230	NM_021870.3(FGG):c.4A>C (p.Ser2Arg)	FGG (S2R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441431	NM_021870.3(FGG):c.661C>A (p.Gln221Lys)	FGG (Q221K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2358764	NM_021870.3(FGG):c.22C>T (p.Arg8Trp)	FGG (R8W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327544	NM_021870.3(FGG):c.633T>G (p.Asp211Glu)	FGG (D211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2262750	NM_021870.3(FGG):c.652A>G (p.Thr218Ala)	FGG (T218A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235580	NM_021870.3(FGG):c.248T>G (p.Val83Gly)	FGG (V83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2203578	NM_021870.3(FGG):c.1129+66_1129+69del	FGG	Microsatellite (intron 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 2169581	NM_021870.3(FGG):c.1129+64T>C	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
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 2069435	NM_021870.3(FGG):c.966C>T (p.Gly322=)	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 2017069	NM_021870.3(FGG):c.334T>C (p.Ser112Pro)	FGG (S112P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999006	NM_021870.3(FGG):c.666+20G>T	FGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990158	NM_021870.3(FGG):c.401+15T>C	FGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990018	NM_021870.3(FGG):c.1130-13C>T	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1956097	NM_021870.3(FGG):c.18C>A (p.His6Gln)	FGG (H6Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917264	NM_021870.3(FGG):c.666+17C>T	FGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902622	NM_021870.3(FGG):c.124-18T>C	FGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1705951	NM_021870.3(FGG):c.1019C>T (p.Thr340Ile)	FGG (T340I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1703849	NM_021870.3(FGG):c.503C>T (p.Thr168Met)	FGG (T168M)	Single nucleotide variant (missense variant)	Hemorrhage	GUncertain significance
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 1684486	NM_021870.3(FGG):c.793C>T (p.Gln265Ter)	FGG (Q265*)	Single nucleotide variant (nonsense)	Afibrinogenemia	GUncertain significance
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 1676732	NM_021870.3(FGG):c.709T>C (p.Tyr237His)	FGG (Y237H)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GUncertain significance
Select item 1299531	NM_021870.3(FGG):c.207_208dup (p.Glu70fs)	FGG (E70fs)	Duplication (frameshift variant)	Familial dysfibrinogenemia	GPathogenic
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 1268953	NM_021870.3(FGG):c.1129+712G>A	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
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 1234766	NM_021870.3(FGG):c.1129+421G>A	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234325	NM_021870.3(FGG):c.533-43C>T	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1163837	NM_021870.3(FGG):c.535T>G (p.Cys179Gly)	FGG (C179G)	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 1098509	NM_021870.3(FGG):c.606G>C (p.Gln202His)	FGG (Q202H)	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 1098507	NM_021870.3(FGG):c.700T>C (p.Trp234Arg)	FGG (W234R)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	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 1049171	NM_021870.3(FGG):c.685G>A (p.Asp229Asn)	FGG (D229N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980702	GRCh37/hg19 4q31.3-32.1(chr4:155528674-156370083)x3	MAP9, NPY2R +3 more	Copy number gain	not provided	GLikely benign
Select item 903088	NM_021870.3(FGG):c.1125C>T (p.Tyr375=)	FGG	Single nucleotide variant (synonymous variant)	Congenital afibrinogenemia	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 902206	NM_021870.3(FGG):c.*494A>G	FGG	Single nucleotide variant (synonymous variant +1 more)	Congenital afibrinogenemia	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 902204	NM_021870.3(FGG):c.*500C>T	FGG	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 902203	NM_021870.3(FGG):c.*535A>G	FGG	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GLikely benign
Select item 900593	NM_021870.3(FGG):c.124G>A (p.Gly42Ser)	FGG (G42S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 900592	NM_021870.3(FGG):c.318C>T (p.Asp106=)	FGG	Single nucleotide variant (synonymous variant)	Congenital afibrinogenemia	GUncertain significance
Select item 899461	NM_021870.3(FGG):c.401G>A (p.Arg134Gln)	FGG (R134Q)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance

<< First< Prev

Page of 2