"Ambry Genetics"[submitter] AND "F7"[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617065	NM_019616.4(F7):c.64+945G>T	F7 (V24F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549777	NM_019616.4(F7):c.64+960G>A	F7 (G29R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248385	NM_019616.4(F7):c.79G>A (p.Glu27Lys)	F7 (E49K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347986	NM_019616.4(F7):c.88C>T (p.His30Tyr)	F7 (H30Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3091483	NM_019616.4(F7):c.110G>A (p.Arg37Gln)	F7 (R37Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1703844	NM_019616.4(F7):c.142C>T (p.Pro48Ser)	F7 (P48S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2257762	NM_019616.4(F7):c.191A>T (p.Glu64Val)	F7 (E86V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487564	NM_019616.4(F7):c.210G>C (p.Lys70Asn)	F7 (K92N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1684390	NM_019616.4(F7):c.213C>G (p.Asp71Glu)	F7 (D71E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2604417	NM_019616.4(F7):c.378G>T (p.Gln126His)	F7 (Q64H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236980	NM_019616.4(F7):c.431C>T (p.Thr144Met)	F7 (T144M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091484	NM_019616.4(F7):c.440A>G (p.Lys147Arg)	F7 (K85R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476325	NM_019616.4(F7):c.587T>C (p.Val196Ala)	F7 (V134A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276999	NM_019616.4(F7):c.613C>A (p.Gln205Lys)	F7 (Q227K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244870	NM_019616.4(F7):c.731C>T (p.Ala244Val)	F7 (A266V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3276997	NM_019616.4(F7):c.745C>T (p.His249Tyr)	F7 (H271Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091485	NM_019616.4(F7):c.784C>T (p.Arg262Trp)	F7 (R200W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364529	NM_019616.4(F7):c.817G>A (p.Val273Ile)	F7 (V295I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2540360	NM_019616.4(F7):c.818T>A (p.Val273Asp)	F7 (V295D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472281	NM_019616.4(F7):c.991A>C (p.Thr331Pro)	F7 (T269P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322624	NM_019616.4(F7):c.1001A>G (p.Glu334Gly)	F7 (E272G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346099	NM_019616.4(F7):c.1033A>T (p.Thr345Ser)	F7 (T367S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091481	NM_019616.4(F7):c.1058G>A (p.Arg353Gln)	F7 (R353Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency +1 more	GUncertain significance
Select item 3276996	NM_019616.4(F7):c.1082T>C (p.Ile361Thr)	F7 (I361T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091482	NM_019616.4(F7):c.1289G>A (p.Arg430His)	F7 (R452H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25