"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - 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 444377	NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)	FA2H (T371M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 320492	NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)	FA2H (T363P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 129027	NM_024306.5(FA2H):c.1039+8T>C	FA2H	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 35 +3 more	GBenign
Select item 1344335	NM_024306.5(FA2H):c.956A>G (p.His319Arg)	FA2H (H319R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 129033	NM_024306.5(FA2H):c.933T>C (p.Tyr311=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign
Select item 447318	NM_024306.5(FA2H):c.925G>A (p.Val309Ile)	FA2H (V309I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 701953	NM_024306.5(FA2H):c.905C>T (p.Ala302Val)	FA2H (A302V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 129032	NM_024306.5(FA2H):c.888A>G (p.Val296=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign
Select item 129031	NM_024306.5(FA2H):c.879C>T (p.Pro293=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35 +3 more	GBenign
Select item 320495	NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)	FA2H (G282S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 514539	NM_024306.5(FA2H):c.771C>T (p.His257=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 241464	NM_024306.5(FA2H):c.691T>C (p.Tyr231His)	FA2H (Y231H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 241463	NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)	FA2H (G217R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1344333	NM_024306.5(FA2H):c.599C>T (p.Thr200Met)	FA2H (T200M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 208728	NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)	FA2H (R189*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1344332	NM_024306.5(FA2H):c.549C>T (p.Leu183=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 320498	NM_024306.5(FA2H):c.537G>A (p.Leu179=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 241461	NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)	FA2H (R113Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +4 more	GConflicting classifications of pathogenicity
Select item 381515	NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)	FA2H (R113W)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 129029	NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)	FA2H (P97A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 320501	NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)	FA2H (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 129028	NM_024306.5(FA2H):c.229C>T (p.Leu77=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign
Select item 1344331	NM_024306.5(FA2H):c.227G>A (p.Trp76Ter)	FA2H (W76*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344330	NM_024306.5(FA2H):c.133G>A (p.Gly45Arg)	FA2H, LOC130059394 (G45R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 406878	NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)	FA2H, LOC130059394 (R32G)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance

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