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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168446	NM_001351169.2(NT5C2):c.*313C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1025816	NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)	CNNM2, NT5C2 (E323del +5 more)	Microsatellite (inframe_indel +2 more)	Hereditary spastic paraplegia 45 +1 more	GConflicting classifications of pathogenicity
Select item 474945	NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del)	CNNM2, NT5C2	Microsatellite (inframe_indel +2 more)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance
Select item 1344442	NM_001351169.2(NT5C2):c.1564C>T (p.His522Tyr)	CNNM2, NT5C2 (H284Y +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344441	NM_001351169.2(NT5C2):c.1562G>A (p.Arg521Gln)	CNNM2, NT5C2 (R283Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344445	NM_001351169.2(NT5C2):c.540-4G>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45 +2 more	GConflicting classifications of pathogenicity
Select item 567683	NM_001351169.2(NT5C2):c.390-3C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance
Select item 1344444	NM_001351169.2(NT5C2):c.390-10T>G	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344443	NM_001351169.2(NT5C2):c.176-10C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45 +1 more	GConflicting classifications of pathogenicity