ClinVar for MedGen (Select 991608) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365163	NM_001244008.2(KIF1A):c.2707G>A (p.Glu903Lys)	KIF1A (E886K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3254582	NM_001244008.2(KIF1A):c.4475C>A (p.Thr1492Asn)	KIF1A (T1390N +14 more)	Single nucleotide variant (missense variant)	KIF1A related neurological disorder	GUncertain significance
Select item 1428612	NM_001244008.2(KIF1A):c.2977+4C>T	KIF1A	Single nucleotide variant (intron variant)	KIF1A related neurological disorder +3 more	GUncertain significance
Select item 497030	NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)	KIF1A	Microsatellite (inframe_insertion +1 more)	KIF1A related neurological disorder +2 more	GConflicting classifications of pathogenicity
Select item 428604	NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	KIF1A (P305L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GPathogenic/Likely pathogenic
Select item 426934	NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)	KIF1A (R13C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +4 more	GPathogenic/Likely pathogenic
Select item 284274	NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del)	KIF1A (E917del +3 more)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 30 +4 more	GBenign/Likely benign

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