C0015503[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626946	NM_000131.4(F7):c.-61T>G	F7	Single nucleotide variant	Congenital factor VII deficiency +1 more	GLikely pathogenic
Select item 626945	NM_000131.4(F7):c.-55C>T	F7	Single nucleotide variant	Congenital factor VII deficiency +1 more	GPathogenic/Likely pathogenic
Select item 626922	NM_019616.4(F7):c.-30A>C	F7	Single nucleotide variant (5 prime UTR variant +1 more)	Factor VII deficiency	GLikely pathogenic
Select item 627274	NM_019616.4(F7):c.149C>G (p.Ser50Cys)	F7 (S50C +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GUncertain significance
Select item 627276	NM_019616.4(F7):c.152T>A (p.Leu51Gln)	F7 (L51Q +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency +1 more	GConflicting classifications of pathogenicity
Select item 627050	NM_019616.4(F7):c.217G>A (p.Glu73Lys)	F7 (E73K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 627309	NM_019616.4(F7):c.364+1G>A	F7	Single nucleotide variant (splice donor variant)	Myocardial infarction, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 627178	NM_019616.4(F7):c.413A>G (p.Gln138Arg)	F7 (Q138R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 627084	NM_019616.4(F7):c.443G>A (p.Arg148His)	F7 (R148H +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency +1 more	GConflicting classifications of pathogenicity
Select item 627119	NM_019616.4(F7):c.615+1G>T	F7	Single nucleotide variant (splice donor variant)	Factor VII deficiency	GLikely pathogenic
Select item 626937	NM_019616.4(F7):c.656C>A (p.Thr219Asn)	F7 (T219N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 627387	NM_019616.4(F7):c.739+7_739+43del	F7	Deletion (splice donor variant)	Factor VII deficiency +2 more	GUncertain significance
Select item 627144	NM_019616.4(F7):c.739+5G>A	F7	Single nucleotide variant (intron variant)	Factor VII deficiency	GLikely pathogenic
Select item 627392	NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)	F7	Deletion (inframe_deletion +1 more)	Factor VII deficiency	GLikely pathogenic
Select item 627403	NM_019616.4(F7):c.845C>T (p.Ala282Val)	F7 (A282V +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency +3 more	GPathogenic/Likely pathogenic
Select item 627193	NM_019616.4(F7):c.961G>A (p.Gly321Ser)	F7 (G321S +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency +1 more	GLikely pathogenic
Select item 12076	NM_019616.4(F7):c.995C>T (p.Ala332Val)	F7 (A354V +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency +4 more	GPathogenic/Likely pathogenic
Select item 265135	NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	F7 (C348F +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 626975	NM_019616.4(F7):c.1048C>T (p.Gln350Ter)	F7 (Q350* +2 more)	Single nucleotide variant (nonsense +1 more)	Factor VII deficiency	GLikely pathogenic
Select item 626999	NM_019616.4(F7):c.1325del (p.Pro442fs)	F7 (P442fs +2 more)	Deletion (frameshift variant +1 more)	Factor VII deficiency +4 more	GPathogenic/Likely pathogenic

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Items: 20