"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184883	NM_004984.4(KIF5A):c.397-2A>G	KIF5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 944917	NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)	KIF5A (R162W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +3 more	GPathogenic/Likely pathogenic
Select item 37129	NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)	KIF5A (R204Q +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal +5 more	GPathogenic/Likely pathogenic
Select item 6807	NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	KIF5A (R280C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 37130	NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	KIF5A (R280H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 986795	NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter)	KIF5A (R371* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987386	NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter)	KIF5A (R457* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987097	NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs)	KIF5A (R782fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 987274	NM_004984.4(KIF5A):c.2755+1G>T	KIF5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987261	NM_004984.4(KIF5A):c.2811del (p.Thr938fs)	KIF5A (T849fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic