"Ambry Genetics"[submitter] AND "SPAST"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230880	NM_014946.4(SPAST):c.34G>A (p.Gly12Ser)	SPAST (G12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 696978	NM_014946.4(SPAST):c.64C>G (p.Pro22Ala)	SPAST (P22A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1901782	NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)	SPAST (P25A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 1982317	NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)	SPAST	Duplication (inframe_insertion +1 more)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 2219291	NM_014946.4(SPAST):c.116C>A (p.Ala39Asp)	SPAST (A39D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234389	NM_014946.4(SPAST):c.138T>G (p.His46Gln)	SPAST (H46Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 2305062	NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)	SPAST (S54C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 960163	NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)	SPAST (S101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2406778	NM_014946.4(SPAST):c.307T>G (p.Ser103Ala)	SPAST (S103A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168170	NM_014946.4(SPAST):c.310G>A (p.Ala104Thr)	SPAST (A104T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397438	NM_014946.4(SPAST):c.310G>C (p.Ala104Pro)	SPAST (A104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229241	NM_014946.4(SPAST):c.323T>G (p.Val108Gly)	SPAST (V108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209043	NM_014946.4(SPAST):c.323T>C (p.Val108Ala)	SPAST (V108A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209044	NM_014946.4(SPAST):c.332G>C (p.Gly111Ala)	SPAST (G111A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222969	NM_014946.4(SPAST):c.335A>C (p.Glu112Ala)	SPAST (E112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222970	NM_014946.4(SPAST):c.341A>C (p.Glu114Ala)	SPAST (E114A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222971	NM_014946.4(SPAST):c.347T>G (p.Val116Gly)	SPAST (V116G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229305	NM_014946.4(SPAST):c.358C>A (p.His120Asn)	SPAST (H120N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264462	NM_014946.4(SPAST):c.419G>T (p.Gly140Val)	SPAST (G139V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 2275963	NM_014946.4(SPAST):c.481G>T (p.Ala161Ser)	SPAST (A161S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1464257	NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)	SPAST (I163T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 2320504	NM_014946.4(SPAST):c.601G>A (p.Val201Ile)	SPAST (V201I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 898890	NM_014946.4(SPAST):c.626C>T (p.Thr209Met)	SPAST (T208M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 916456	NM_014946.4(SPAST):c.647C>G (p.Thr216Ser)	SPAST (T215S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2329707	NM_014946.4(SPAST):c.722A>G (p.His241Arg)	SPAST (H208R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 448455	NM_014946.4(SPAST):c.832G>A (p.Val278Met)	SPAST (V278M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2548289	NM_014946.4(SPAST):c.966C>A (p.Ser322Arg)	SPAST (S322R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 2291709	NM_014946.4(SPAST):c.986T>C (p.Met329Thr)	SPAST (M329T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957582	NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)	SPAST (I311M +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 374641	NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)	SPAST (E356K +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 208644	NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	SPAST (M390V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +2 more	GPathogenic
Select item 521727	NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)	SPAST (F404del +3 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 4 +2 more	GPathogenic/Likely pathogenic
Select item 226113	NM_014946.4(SPAST):c.1245+1G>A	SPAST	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 521854	NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp)	SPAST (N487D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 240950	NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	SPAST (R499H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 2334431	NM_014946.4(SPAST):c.1567T>C (p.Cys523Arg)	SPAST (C522R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 217003	NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	SPAST (D542G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +4 more	GConflicting classifications of pathogenicity
Select item 225068	NM_014946.4(SPAST):c.1634C>G (p.Ser545Ter)	SPAST (S545* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2493970	NM_014946.4(SPAST):c.1781G>A (p.Arg594His)	SPAST (R561H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 645580	NM_014946.4(SPAST):c.1805A>C (p.Glu602Ala)	SPAST (E569A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 212291	NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)	SPAST (I605V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +2 more	GUncertain significance
Select item 3168169	NM_014946.4(SPAST):c.1823dup (p.Asn608fs)	SPAST (N575fs +3 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic

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Items: 42