"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211292	NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)	KIF1A (D1542N +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 425262	NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp)	KIF1A (R1105W +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 982656	NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp)	KIF1A (R813W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2576565	NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)	KIF1A (A334T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 280500	NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	KIF1A (R254Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 1342900	NM_001244008.2(KIF1A):c.706A>G (p.Ile236Val)	KIF1A (I236V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GUncertain significance
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	GPathogenic

ClinVar