"CHU Sainte-Justine Research Center, University of Montreal"[submitter - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162060	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A (R316W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +6 more	GPathogenic/Likely pathogenic
Select item 162059	NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)	KIF1A (E253K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GPathogenic
Select item 162061	NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)	KIF1A (L249Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 162058	NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)	KIF1A (R216P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GConflicting classifications of pathogenicity
Select item 162057	NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)	KIF1A (S215R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GPathogenic
Select item 162056	NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)	KIF1A (A202P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 162055	NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)	KIF1A (R167C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GPathogenic/Likely pathogenic
Select item 162054	NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)	KIF1A (V144F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 162053	NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)	KIF1A (G102D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 30169	NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)	KIF1A (T99M)	Single nucleotide variant (missense variant)	PEHO syndrome +4 more	GPathogenic
Select item 162052	NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	KIF1A (S58L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +5 more	GPathogenic/Likely pathogenic