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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 573515	NM_016630.7(SPG21):c.862A>G (p.Met288Val)	SPG21 (M288V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 215896	NM_016630.7(SPG21):c.846G>A (p.Ala282=)	SPG21	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 220662	NM_016630.7(SPG21):c.843C>T (p.Tyr281=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome +2 more	GBenign/Likely benign
Select item 1344122	NM_016630.7(SPG21):c.820C>A (p.Leu274Met)	SPG21 (L247M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344121	NM_016630.7(SPG21):c.819G>T (p.Leu273Phe)	SPG21 (L246F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344120	NM_016630.7(SPG21):c.814C>A (p.His272Asn)	SPG21 (H245N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 696703	NM_016630.7(SPG21):c.771A>C (p.Pro257=)	SPG21	Single nucleotide variant (synonymous variant)	SPG21-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1344119	NM_016630.7(SPG21):c.676G>C (p.Asp226His)	SPG21 (D199H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344117	NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)	SPG21 (Q178* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 316720	NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)	SPG21 (A180T +1 more)	Single nucleotide variant (missense variant)	Mast syndrome +3 more	GConflicting classifications of pathogenicity
Select item 837857	NM_016630.7(SPG21):c.452+2T>C	SPG21	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1344115	NM_016630.7(SPG21):c.304A>G (p.Lys102Glu)	SPG21 (K102E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344113	NM_016630.7(SPG21):c.243T>C (p.Tyr81=)	SPG21	Single nucleotide variant (synonymous variant +1 more)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1344112	NM_016630.7(SPG21):c.199A>T (p.Thr67Ser)	SPG21 (T67S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344111	NM_016630.7(SPG21):c.172G>A (p.Val58Ile)	SPG21 (V58I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1344110	NM_016630.7(SPG21):c.153T>C (p.Pro51=)	SPG21	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344118	NM_016630.7(SPG21):c.64A>G (p.Ile22Val)	SPG21 (I22V)	Single nucleotide variant (missense variant)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1344114	NM_016630.7(SPG21):c.-25+7del	SPG21	Deletion (intron variant)	Hereditary spastic paraplegia	GUncertain significance