ClinVar for MedGen (Select 7919) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684488	NM_021871.4(FGA):c.103C>G (p.Arg35Gly)	FGA (R35G)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GUncertain significance
Select item 1684487	NM_021871.4(FGA):c.1055del (p.Pro352fs)	FGA (P352fs)	Deletion (frameshift variant)	Afibrinogenemia	GLikely pathogenic
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 1684429	NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)	FGA (D496Y)	Single nucleotide variant (missense variant)	Afibrinogenemia	GUncertain significance
Select item 625917	NM_000204.5(CFI):c.1532C>T (p.Ala511Val)	CFI (A511V +4 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 13 +4 more	GUncertain significance
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 16396	NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	FGB (R47*)	Single nucleotide variant (nonsense)	Hypofibrinogenemia	GLikely pathogenic
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