"3billion"[submitter] AND "KIF1A"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320162	NM_001244008.2(KIF1A):c.3073del (p.Glu1025fs)	KIF1A (E1008fs +7 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 9	GPathogenic
Select item 1320263	NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser)	KIF1A (I271S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 245636	NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	KIF1A (R254W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GPathogenic/Likely pathogenic
Select item 2444114	NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)	KIF1A (M210I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 451648	NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)	KIF1A (C151Y)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GConflicting classifications of pathogenicity
Select item 2444305	NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)	KIF1A (A101V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	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 1431889	NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg)	KIF1A (S51R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity