ClinVar for MedGen (Select 749036) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 192

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257729	NM_021870.3(FGG):c.1242del (p.Phe415fs)	FGG (F415fs)	Deletion (frameshift variant)	Congenital afibrinogenemia +1 more	GLikely pathogenic
Select item 2691428	NC_000004.11:g.(?_155484162)_(155493960_?)del	FGB	Deletion	Congenital afibrinogenemia	GPathogenic
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 1703848	NM_005141.5(FGB):c.946T>C (p.Cys316Arg)	FGB (C257R +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 1687401	NM_005141.5(FGB):c.691T>C (p.Cys231Arg)	FGB (C172R +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1677258	NM_005141.5(FGB):c.506T>A (p.Val169Asp)	FGB (V110D +2 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1676739	NM_021871.4(FGA):c.364+5G>A	FGA	Single nucleotide variant (intron variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1322896	NM_021871.4(FGA):c.364+1G>A	FGA	Single nucleotide variant (splice donor variant)	Familial visceral amyloidosis, Ostertag type +2 more	GLikely pathogenic
Select item 1303212	NM_021871.4(FGA):c.431_432del (p.Lys144fs)	FGA (K144fs)	Deletion (frameshift variant)	Congenital afibrinogenemia +1 more	GConflicting classifications of pathogenicity
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 1163448	NM_005141.5(FGB):c.656A>G (p.Gln219Arg)	FGB (Q160R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1098505	NM_021871.4(FGA):c.829T>C (p.Tyr277His)	FGA (Y277H)	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 1098503	NM_021871.4(FGA):c.1470C>G (p.Asp490Glu)	FGA (D490E)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
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 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 1098477	NM_000508.5(FGA):c.2021T>C (p.Leu674Ser)	FGA (L674S)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	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 1098474	NM_000508.5(FGA):c.2128G>A (p.Gly710Ser)	FGA (G710S)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098473	NM_000508.5(FGA):c.2155del (p.Gln719fs)	FGA (Q719fs)	Deletion (frameshift variant)	Congenital afibrinogenemia	GPathogenic
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 1098471	NM_000508.5(FGA):c.2527T>C (p.Trp843Arg)	FGA (W843R)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1035565	NM_021871.4(FGA):c.8C>T (p.Ser3Phe)	FGA (S3F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 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 902925	NM_005141.5(FGB):c.*1070G>C	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GBenign
Select item 902924	NM_005141.5(FGB):c.*1019G>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902923	NM_005141.5(FGB):c.*846T>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902922	NM_005141.5(FGB):c.*801A>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902863	NM_005141.5(FGB):c.762G>A (p.Met254Ile)	FGB (M254I +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902862	NM_005141.5(FGB):c.752C>T (p.Thr251Ile)	FGB (T251I +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 902861	NM_005141.5(FGB):c.749A>G (p.Glu250Gly)	FGB (E191G +1 more)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +2 more	GUncertain significance
Select item 902860	NM_005141.5(FGB):c.659T>C (p.Met220Thr)	FGB (M220T +1 more)	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 902153	NM_021871.4(FGA):c.1025G>A (p.Gly342Glu)	FGA (G342E)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	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 902096	NM_005141.5(FGB):c.*1892G>A	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902037	NM_005141.5(FGB):c.*526C>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902036	NM_005141.5(FGB):c.*464C>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902035	NM_005141.5(FGB):c.*450T>A	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 902034	NM_005141.5(FGB):c.*427G>A	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901958	NM_005141.5(FGB):c.510T>A (p.Asn170Lys)	FGB (N170K +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GLikely benign
Select item 901957	NM_005141.5(FGB):c.254T>C (p.Val85Ala)	FGB (V85A)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 901477	NM_005141.5(FGB):c.*1752G>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GBenign
Select item 901476	NM_005141.5(FGB):c.*1687A>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901475	NM_005141.5(FGB):c.*1639T>C	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901415	NM_005141.5(FGB):c.*363A>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901414	NM_005141.5(FGB):c.*304G>A	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901413	NM_005141.5(FGB):c.*277A>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901412	NM_005141.5(FGB):c.*233G>T	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 901360	NM_005141.5(FGB):c.210C>T (p.Gly70=)	FGB	Single nucleotide variant (synonymous variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 901359	NM_005141.5(FGB):c.169C>T (p.Pro57Ser)	FGB (P57S)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GUncertain significance
Select item 901358	NM_005141.5(FGB):c.115-12C>T	FGB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 901357	NM_005141.5(FGB):c.103G>A (p.Asp35Asn)	FGB (D35N)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 901356	NM_005141.5(FGB):c.80T>C (p.Leu27Pro)	FGB (L27P)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
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 900538	NM_021871.4(FGA):c.181-14C>T	FGA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 900484	NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)	FGA (G358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 900483	NM_021871.4(FGA):c.1207G>A (p.Ala403Thr)	FGA (A403T)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
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 900318	NM_005141.5(FGB):c.*1252A>C	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 900317	NM_005141.5(FGB):c.*1204T>C	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 900316	NM_005141.5(FGB):c.*1105A>G	FGB	Single nucleotide variant (3 prime UTR variant)	Congenital afibrinogenemia	GUncertain significance
Select item 900253	NM_005141.5(FGB):c.1292G>T (p.Gly431Val)	FGB (G431V +1 more)	Single nucleotide variant (missense 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
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 809696	NM_021870.3(FGG):c.620A>G (p.Tyr207Cys)	FGG (Y207C)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance
Select item 800649	NM_021871.4(FGA):c.811C>T (p.Arg271Ter)	FGA (R271*)	Single nucleotide variant (nonsense)	Congenital afibrinogenemia	GPathogenic
Select item 800647	NM_005141.5(FGB):c.974G>C (p.Gly325Ala)	FGB (G266A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia	GPathogenic
Select item 800570	NM_021870.3(FGG):c.666+23T>A	FGG	Single nucleotide variant (intron variant)	Congenital afibrinogenemia	GPathogenic
Select item 789882	NM_021870.3(FGG):c.78+9G>A	FGG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 783429	NM_021871.4(FGA):c.300G>A (p.Lys100=)	FGA	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 783428	NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)	FGA (T456A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 708395	NM_021871.4(FGA):c.780G>A (p.Glu260=)	FGA	Single nucleotide variant (synonymous variant)	Familial dysfibrinogenemia +3 more	GBenign/Likely benign
Select item 696149	NM_005141.5(FGB):c.298C>T (p.Pro100Ser)	FGB (P100S)	Single nucleotide variant (missense variant +1 more)	Congenital afibrinogenemia +2 more	GConflicting classifications of pathogenicity
Select item 695936	NM_005141.5(FGB):c.682A>G (p.Thr228Ala)	FGB (T228A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 632435	NM_021871.4(FGA):c.532C>T (p.Arg178Ter)	FGA (R178*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type +3 more	GPathogenic/Likely pathogenic
Select item 627406	NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	FGA (R308*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 627330	NM_005141.5(FGB):c.534G>C (p.Lys178Asn)	FGB (K178N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 627235	NM_021870.3(FGG):c.140C>T (p.Thr47Ile)	FGG (T47I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 547969	NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	FGG (A108G)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 517313	NM_005141.5(FGB):c.794C>T (p.Pro265Leu)	FGB (P265L +1 more)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +6 more	GConflicting classifications of pathogenicity
Select item 504885	NM_021870.3(FGG):c.1022G>A (p.Trp341Ter)	FGG (W341*)	Single nucleotide variant (nonsense)	Congenital afibrinogenemia	GPathogenic
Select item 402230	NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	FGA (R168*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type +3 more	GPathogenic
Select item 369438	NM_000509.5(FGG):c.*216C>T	FGG	Single nucleotide variant	Congenital afibrinogenemia +1 more	GBenign
Select item 347835	NM_000509.5(FGG):c.-130G>T	FGG, LOC114827822	Single nucleotide variant	Congenital afibrinogenemia	GUncertain significance
Select item 347834	NM_000509.5(FGG):c.-53A>G	FGG	Single nucleotide variant	Congenital afibrinogenemia	GUncertain significance
Select item 347833	NM_021870.3(FGG):c.19C>T (p.Pro7Ser)	FGG (P7S)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +1 more	GUncertain significance

<< First< Prev

Page of 2