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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 705102	NM_006612.6(KIF1C):c.1750+6_1750+8del	KIF1C, KIF1C-AS1 +1 more	Microsatellite (non-coding transcript variant +1 more)	Spastic ataxia 2 +1 more	GLikely benign
Select item 385057	NM_006612.6(KIF1C):c.1751-7T>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 385064	NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +2 more	GBenign/Likely benign
Select item 1344395	NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)	KIF1C, LOC126862473 (P615L)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 1344396	NM_006612.6(KIF1C):c.1937+5G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +1 more	GUncertain significance
Select item 1344397	NM_006612.6(KIF1C):c.1938-5C>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1176653	NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar