"Clinical Genetics, Academic Medical Center"[submitter] AND "KIF5A"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328093	NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser)	KIF5A (P18S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
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 194061	NM_004984.4(KIF5A):c.1293+9G>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 79154	NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)	KIF5A (E758K +1 more)	Single nucleotide variant (missense variant)	KIF5A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 309944	NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related condition +4 more	GBenign/Likely benign
Select item 215507	NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 309948	NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)	KIF5A (T947A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +5 more	GConflicting classifications of pathogenicity
Select item 240087	NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)	KIF5A (P986L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity