"PreventionGenetics, part of Exact Sciences"[submitter] AND "SPAST"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335826	NM_014946.4(SPAST):c.-41C>T	SPAST	Single nucleotide variant (5 prime UTR variant)	SPAST-related disorder +2 more	GLikely benign
Select item 2078849	NM_014946.4(SPAST):c.78C>T (p.Pro26=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GLikely benign
Select item 2634603	NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)	SPAST (E43Q)	Single nucleotide variant (missense variant)	SPAST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 5671	NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	SPAST (S44L)	Single nucleotide variant (missense variant)	SPAST-related disorder +5 more	GBenign/Likely benign; other; risk factor
Select item 2305062	NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)	SPAST (S54C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +2 more	GUncertain significance
Select item 697872	NM_014946.4(SPAST):c.243C>G (p.Arg81=)	SPAST	Single nucleotide variant (synonymous variant)	SPAST-related disorder +2 more	GBenign/Likely benign
Select item 220021	NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)	SPAST (P97T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +2 more	GBenign/Likely benign
Select item 2571068	NM_014946.4(SPAST):c.318G>A (p.Ala106=)	SPAST	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3041351	NM_014946.4(SPAST):c.330del (p.Gly111fs)	SPAST (G111fs)	Deletion (frameshift variant)	SPAST-related disorder	GLikely benign
Select item 335829	NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	SPAST (V162I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 2630100	NM_014946.4(SPAST):c.1099-2A>C	SPAST	Single nucleotide variant (splice acceptor variant)	SPAST-related disorder	GLikely pathogenic
Select item 2008082	NM_014946.4(SPAST):c.1229G>T (p.Ser410Ile)	SPAST (S409I +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 2629904	NM_014946.4(SPAST):c.1246-1G>A	SPAST	Single nucleotide variant (splice acceptor variant)	SPAST-related disorder	GLikely pathogenic
Select item 409032	NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)	SPAST (A495T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 240949	NM_014946.4(SPAST):c.1493+18G>T	SPAST	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 240950	NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	SPAST (R499H +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 3051967	NM_014946.4(SPAST):c.1610_1611dup (p.Ala538fs)	SPAST (A505fs +3 more)	Duplication (frameshift variant)	SPAST-related disorder	GLikely pathogenic
Select item 217004	NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	SPAST (R562Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +3 more	GPathogenic/Likely pathogenic