"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282386	NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	KIF1A (A1723V +14 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1120330	NM_001244008.2(KIF1A):c.4926C>T (p.Ala1642=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 335266	NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)	KIF1A, LOC126806583	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 899144	NM_001244008.2(KIF1A):c.3465+4C>T	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +3 more	GUncertain significance
Select item 211284	NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 196129	NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	KIF1A (P1087S +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 335272	NM_001244008.2(KIF1A):c.2977+13C>T	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +3 more	GBenign
Select item 211281	NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +6 more	GConflicting classifications of pathogenicity
Select item 379861	NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 516337	NM_001244008.2(KIF1A):c.2117-20C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +4 more	GLikely benign