Related gene-specific medical variations for Gene (Select 2155) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238741	NM_019616.4(F7):c.605G>A (p.Cys202Tyr)	F7 (C140Y +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	Gnot provided
Select item 3067939	NM_019616.4(F7):c.290G>A (p.Gly97Asp)	F7 (G119D +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2664036	NM_019616.4(F7):c.445T>C (p.Ser149Pro)	F7 (S149P +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2582791	NM_019616.4(F7):c.190_191delinsTT (p.Glu64Leu)	F7 (E64L +1 more)	Indel (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2582790	NM_019616.4(F7):c.179G>T (p.Cys60Phe)	F7 (C60F +1 more)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2582716	NM_019616.4(F7):c.1145G>A (p.Ser382Asn)	F7 (S320N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2441326	NM_019616.4(F7):c.442C>T (p.Arg148Cys)	F7 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 1527903	NM_019616.4(F7):c.86C>A (p.Ala29Asp)	F7 (A29D +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 1527889	NM_019616.4(F7):c.857T>C (p.Leu286Pro)	F7 (L224P +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 1330279	NM_019616.4(F7):c.1105G>A (p.Gly369Ser)	F7 (G307S +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 1322861	NM_019616.4(F7):c.1263C>G (p.Tyr421Ter)	F7 (Y359* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital factor VII deficiency	GPathogenic
Select item 1098450	NM_019616.4(F7):c.1319G>T (p.Arg440Leu)	F7 (R378L +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency	GUncertain significance
Select item 1098449	NM_019616.4(F7):c.1292C>T (p.Ser431Leu)	F7 (S369L +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency	GLikely benign
Select item 1098448	NM_019616.4(F7):c.1272G>A (p.Trp424Ter)	F7 (W362* +2 more)	Single nucleotide variant (nonsense +1 more)	Factor VII deficiency	GPathogenic
Select item 1098447	NM_019616.4(F7):c.737T>C (p.Leu246Pro)	F7 (L184P +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency	GLikely pathogenic
Select item 1098446	NM_019616.4(F7):c.408T>G (p.Cys136Trp)	F7 (C136W +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency	GUncertain significance
Select item 1098445	NM_019616.4(F7):c.394G>T (p.Glu132Ter)	F7 (E132* +2 more)	Single nucleotide variant (nonsense +1 more)	Factor VII deficiency	GPathogenic
Select item 1098444	NM_019616.4(F7):c.391A>C (p.Asn131His)	F7 (N131H +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency	GUncertain significance
Select item 1098443	NM_019616.4(F7):c.220A>G (p.Arg74Gly)	F7 (R74G +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GLikely pathogenic
Select item 1098442	NM_019616.4(F7):c.84A>C (p.Glu28Asp)	F7 (E28D +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GLikely benign
Select item 988831	NM_019616.4(F7):c.791C>T (p.Ala264Val)	F7 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	Abnormal bleeding +1 more	GUncertain significance

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Links from Gene

Items: 21