C1866855[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335822	NM_014946.4(SPAST):c.-220G>T	SPAST	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335824	NM_014946.4(SPAST):c.-168G>A	SPAST	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 896136	NM_014946.4(SPAST):c.-90C>A	SPAST	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335826	NM_014946.4(SPAST):c.-41C>T	SPAST	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GLikely benign
Select item 335827	NM_014946.4(SPAST):c.-7G>A	SPAST	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 897736	NM_014946.4(SPAST):c.30G>A (p.Lys10=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 335828	NM_014946.4(SPAST):c.55C>T (p.Pro19Ser)	SPAST (P19S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 897737	NM_014946.4(SPAST):c.113C>T (p.Pro38Leu)	SPAST (P38L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 897738	NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)	SPAST (E43D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	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 condition +5 more	GBenign/Likely benign; other; risk factor
Select item 5672	NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	SPAST (P45Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897739	NM_014946.4(SPAST):c.137A>G (p.His46Arg)	SPAST (H46R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GBenign/Likely benign
Select item 898888	NM_014946.4(SPAST):c.157T>C (p.Phe53Leu)	SPAST (F53L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 220021	NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)	SPAST (P97T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 699517	NM_014946.4(SPAST):c.441A>G (p.Glu147=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GConflicting classifications of pathogenicity
Select item 335829	NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	SPAST (V162I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 898889	NM_014946.4(SPAST):c.555G>C (p.Leu185Phe)	SPAST (L185F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335830	NM_014946.4(SPAST):c.586+9_586+12del	SPAST	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 335831	NM_014946.4(SPAST):c.644G>A (p.Ser215Asn)	SPAST (S215N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 898891	NM_014946.4(SPAST):c.679T>G (p.Ser227Ala)	SPAST (S227A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 197814	NM_014946.4(SPAST):c.683-9C>T	SPAST	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 844578	NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)	SPAST (P205T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 335832	NM_014946.4(SPAST):c.828T>C (p.Ser276=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GBenign/Likely benign
Select item 335833	NM_014946.4(SPAST):c.865C>T (p.His289Tyr)	SPAST (H289Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 895927	NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)	SPAST (P260L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 219840	NM_014946.4(SPAST):c.879G>A (p.Pro293=)	SPAST	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 895928	NM_014946.4(SPAST):c.1002C>G (p.Asp334Glu)	SPAST (D302E +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335834	NM_014946.4(SPAST):c.1005-5C>A	SPAST	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 512772	NM_014946.4(SPAST):c.1077T>C (p.Ile359=)	SPAST	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 896205	NM_014946.4(SPAST):c.1182A>G (p.Ala394=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 226113	NM_014946.4(SPAST):c.1245+1G>A	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 4 +4 more	GPathogenic/Likely pathogenic
Select item 701004	NM_014946.4(SPAST):c.1362G>A (p.Glu454=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4 +1 more	GLikely benign
Select item 392111	NM_014946.4(SPAST):c.1493+6G>A	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4 +1 more	GBenign/Likely benign
Select item 240951	NM_014946.4(SPAST):c.1593A>G (p.Gln531=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GBenign/Likely benign
Select item 217003	NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	SPAST (D542G +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy +4 more	GConflicting classifications of pathogenicity
Select item 896206	NM_014946.4(SPAST):c.1687+15G>A	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 896207	NM_014946.4(SPAST):c.1688-3C>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 212290	NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	SPAST (N579H +3 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 335835	NM_014946.4(SPAST):c.1744T>C (p.Leu582=)	SPAST	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 4	GConflicting classifications of pathogenicity
Select item 335837	NM_014946.4(SPAST):c.*19C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335838	NM_014946.4(SPAST):c.*51A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4 +1 more	GBenign/Likely benign
Select item 335839	NM_014946.4(SPAST):c.*98A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 335840	NM_014946.4(SPAST):c.*157A>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 897810	NM_014946.4(SPAST):c.*195T>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 897811	NM_014946.4(SPAST):c.*219C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335842	NM_014946.4(SPAST):c.*256A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4 +1 more	GBenign/Likely benign
Select item 335844	NM_014946.4(SPAST):c.*382G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335845	NM_014946.4(SPAST):c.*478G>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335846	NM_014946.4(SPAST):c.*494C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335847	NM_014946.4(SPAST):c.*521A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335848	NM_014946.4(SPAST):c.*533T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335849	NM_014946.4(SPAST):c.*591A>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335851	NM_014946.4(SPAST):c.*765A>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 894836	NM_014946.4(SPAST):c.*796T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335853	NM_014946.4(SPAST):c.*819C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335854	NM_014946.4(SPAST):c.*892T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 894837	NM_014946.4(SPAST):c.*1029G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335855	NM_014946.4(SPAST):c.*1156T>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 335857	NM_014946.4(SPAST):c.*1231C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 894838	NM_014946.4(SPAST):c.*1279G>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335858	NM_014946.4(SPAST):c.*1376A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335859	NM_014946.4(SPAST):c.*1410T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335860	NM_014946.4(SPAST):c.*1454G>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335861	NM_014946.4(SPAST):c.*1476A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335864	NM_014946.4(SPAST):c.*1544G>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335865	NM_014946.4(SPAST):c.*1545T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335866	NM_014946.4(SPAST):c.*1604G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 896275	NM_014946.4(SPAST):c.*1731G>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335867	NM_014946.4(SPAST):c.*1777G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335868	NM_014946.4(SPAST):c.*1783C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335869	NM_014946.4(SPAST):c.*1829C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335870	NM_014946.4(SPAST):c.*1858T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335871	NM_014946.4(SPAST):c.*1962A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335872	NM_014946.4(SPAST):c.*1963A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335873	NM_014946.4(SPAST):c.*1969A>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335874	NM_014946.4(SPAST):c.*1995A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335875	NM_014946.4(SPAST):c.*2150G>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335877	NM_014946.4(SPAST):c.*2196A>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335878	NM_014946.4(SPAST):c.*2264G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335879	NM_014946.4(SPAST):c.*2318G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335880	NM_014946.4(SPAST):c.*2322T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335881	NM_014946.4(SPAST):c.*2399C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335882	NM_014946.4(SPAST):c.*2433A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335883	NM_014946.4(SPAST):c.*2504A>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335884	NM_014946.4(SPAST):c.*2583C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335885	NM_014946.4(SPAST):c.*2589T>G	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign
Select item 335886	NM_014946.4(SPAST):c.*2658A>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 894903	NM_014946.4(SPAST):c.*2672T>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 894904	NM_014946.4(SPAST):c.*2737G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335887	NM_014946.4(SPAST):c.*2779G>A	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335888	NM_014946.4(SPAST):c.*2898C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335889	NM_014946.4(SPAST):c.*2904C>T	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 894905	NM_014946.4(SPAST):c.*2920T>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335890	NM_014946.4(SPAST):c.*2987G>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 335892	NM_014946.4(SPAST):c.*3013T>C	SPAST	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 4	GBenign

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Items: 96