"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137563	NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)	HSPD1 (G563A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1344353	NM_002156.5(HSPD1):c.1545A>G (p.Glu515=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 390700	NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 895970	NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 239102	NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +4 more	GBenign
Select item 1344352	NM_002156.5(HSPD1):c.1294G>T (p.Val432Phe)	HSPD1 (V432F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 137562	NM_002156.5(HSPD1):c.1216-9C>T	HSPD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1344351	NM_002156.5(HSPD1):c.1009G>A (p.Val337Ile)	HSPD1 (V337I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1344358	NM_002156.5(HSPD1):c.868A>C (p.Arg290=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344357	NM_002156.5(HSPD1):c.849A>G (p.Leu283=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 695547	NM_002156.5(HSPD1):c.700+8C>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 1344356	NM_002156.5(HSPD1):c.692C>T (p.Thr231Ile)	HSPD1 (T231I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344355	NM_002156.5(HSPD1):c.691A>T (p.Thr231Ser)	HSPD1 (T231S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 214549	NM_002156.5(HSPD1):c.561T>C (p.Ser187=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +5 more	GBenign/Likely benign
Select item 424666	NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)	HSPD1 (N184S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 137566	NM_002156.5(HSPD1):c.428-10G>A	HSPD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 129241	NM_002156.5(HSPD1):c.273A>G (p.Lys91=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign
Select item 137565	NM_002156.5(HSPD1):c.144C>T (p.Ala48=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 129243	NM_002156.5(HSPD1):c.69T>C (p.Thr23=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 129242	NM_002156.5(HSPD1):c.27C>G (p.Arg9=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 333313	NM_002156.5(HSPD1):c.18A>G (p.Thr6=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely 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: 21