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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344437	NM_144599.5(NIPA1):c.11C>T (p.Ala4Val)	LOC130056709, NIPA1 (A4V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 948284	NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del)	LOC130056709, NIPA1	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 695853	NM_144599.5(NIPA1):c.21_23del (p.Ala16del)	LOC130056709, NIPA1 (A16del)	Deletion (inframe_deletion +1 more)	not provided +2 more	GBenign/Likely benign
Select item 533362	NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 380931	NM_144599.5(NIPA1):c.21A>G (p.Ala7=)	LOC130056709, NIPA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 6 +2 more	GConflicting classifications of pathogenicity
Select item 241882	NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 6 +3 more	GBenign/Likely benign
Select item 193496	NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1344438	NM_144599.5(NIPA1):c.222C>T (p.Ile74=)	NIPA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 6 +1 more	GConflicting classifications of pathogenicity
Select item 289458	NM_144599.5(NIPA1):c.312G>A (p.Pro104=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 6 +3 more	GConflicting classifications of pathogenicity
Select item 2523	NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	NIPA1 (G106R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 129804	NM_144599.5(NIPA1):c.441A>G (p.Thr147=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 1344439	NM_144599.5(NIPA1):c.479-7G>T	NIPA1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344440	NM_144599.5(NIPA1):c.636G>A (p.Ala212=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 699096	NM_144599.5(NIPA1):c.681C>T (p.Leu227=)	NIPA1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 515029	NM_144599.5(NIPA1):c.798C>T (p.Val266=)	NIPA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity