ClinVar for Gene (Select 6683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381159	NM_014946.4(SPAST):c.1115G>A (p.Arg372Lys)	SPAST (R339K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380796	NM_014946.4(SPAST):c.856C>A (p.Pro286Thr)	SPAST (P253T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379374	NM_014946.4(SPAST):c.1294G>T (p.Glu432Ter)	SPAST (E399* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4	GPathogenic
Select item 3378020	NM_014946.4(SPAST):c.1072G>T (p.Val358Phe)	SPAST (V325F +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3378005	NM_014946.4(SPAST):c.1636G>A (p.Gly546Arg)	SPAST (G513R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 3372103	NM_014946.4(SPAST):c.572G>A (p.Arg191His)	SPAST (R190H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369686	NM_014946.4(SPAST):c.255C>T (p.Ala85=)	SPAST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368732	NM_014946.4(SPAST):c.*6T>C	SPAST	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3367733	NM_014946.4(SPAST):c.56C>G (p.Pro19Arg)	SPAST (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366650	NM_014946.4(SPAST):c.1513_1528del (p.Tyr505fs)	SPAST (Y472fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 3363774	NM_014946.4(SPAST):c.58G>C (p.Val20Leu)	SPAST (V20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347765	NM_014946.4(SPAST):c.1333_1334insCAA (p.Asp444_Ser445insThr)	SPAST	Insertion (inframe_insertion)	SPAST-related disorder	GUncertain significance
Select item 3346317	NM_014946.4(SPAST):c.1154G>A (p.Gly385Glu)	SPAST (G352E +3 more)	Single nucleotide variant (missense variant)	SPAST-related disorder	GLikely pathogenic
Select item 3345660	NM_014946.4(SPAST):c.1245+1G>T	SPAST	Single nucleotide variant (splice donor variant)	SPAST-related disorder	GPathogenic
Select item 3343705	NM_014946.4(SPAST):c.382T>G (p.Ser128Ala)	SPAST (S128A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340614	NM_014946.4(SPAST):c.403G>T (p.Glu135Ter)	SPAST (E135*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3340371	NM_014946.4(SPAST):c.1654T>G (p.Leu552Val)	SPAST (L519V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340341	NM_014946.4(SPAST):c.1130G>A (p.Gly377Glu)	SPAST (G344E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337627	NM_014946.4(SPAST):c.1217del (p.Ile406fs)	SPAST (I373fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337626	NM_014946.4(SPAST):c.1158T>G (p.Asn386Lys)	SPAST (N353K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337625	NM_014946.4(SPAST):c.1025A>G (p.Asp342Gly)	SPAST (D309G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337624	NM_014946.4(SPAST):c.991G>A (p.Glu331Lys)	SPAST (E298K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337623	NM_014946.4(SPAST):c.722del (p.His241fs)	SPAST (H208fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337622	NM_014946.4(SPAST):c.622C>A (p.Gln208Lys)	SPAST (Q207K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3321840	NM_014946.4(SPAST):c.163T>C (p.Tyr55His)	SPAST (Y55H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321839	NM_014946.4(SPAST):c.953G>A (p.Arg318Lys)	SPAST (R286K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321838	NM_014946.4(SPAST):c.64C>T (p.Pro22Ser)	SPAST (P22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257358	NM_014946.4(SPAST):c.1238del (p.Thr412_Ser413insTer)	SPAST	Deletion (nonsense)	not provided	GPathogenic
Select item 3256959	NM_014946.4(SPAST):c.1730T>C (p.Met577Thr)	SPAST (M544T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3256608	NM_014946.4(SPAST):c.985dup (p.Met329fs)	SPAST (M296fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	Gnot provided
Select item 3256565	NM_014946.4(SPAST):c.1443dup (p.Val482fs)	SPAST (V449fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 3255067	NM_014946.4(SPAST):c.1214del (p.Asn405fs)	SPAST (N372fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 3252286	NM_014946.4(SPAST):c.1786G>A (p.Val596Ile)	SPAST (V563I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251843	NM_014946.4(SPAST):c.1597_1598del (p.Glu533fs)	SPAST (E500fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 3251485	NM_014946.4(SPAST):c.858T>C (p.Pro286=)	SPAST	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3248554	NM_014946.4(SPAST):c.435del (p.Val146fs)	SPAST (V145fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 3247410	NC_000002.11:g.(?_32288901)_(32449854_?)del	SLC30A6, NLRC4 +1 more	Deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3247329	NC_000002.11:g.(?_32352275)_(32353547_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247328	NC_000002.11:g.(?_32272227)_(32289220_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247327	NC_000002.11:g.(?_32351997)_(32379565_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247325	NC_000002.11:g.(?_32339687)_(32379565_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247324	NC_000002.11:g.(?_32366953)_(32370096_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247323	NC_000002.11:g.(?_32366953)_(32368504_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247322	NC_000002.11:g.(?_32361612)_(32367035_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247321	NC_000002.11:g.(?_32323845)_(32352111_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247320	NC_000002.11:g.(?_32366953)_(32372347_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247319	NC_000002.11:g.(?_32353457)_(32353568_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247318	NC_000002.11:g.(?_32288901)_(32289335_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3220857	NM_014946.4(SPAST):c.1076T>C (p.Ile359Thr)	SPAST (I358T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
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 3168169	NM_014946.4(SPAST):c.1823dup (p.Asn608fs)	SPAST (N575fs +3 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3068637	NM_014946.4(SPAST):c.1733_1736dup (p.Asn579fs)	SPAST (N546fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062610	GRCh37/hg19 2p22.3(chr2:32160722-32330144)x3	DPY30, MEMO1 +1 more	Copy number gain	not specified	GUncertain significance
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 3041351	NM_014946.4(SPAST):c.330del (p.Gly111fs)	SPAST (G111fs)	Deletion (frameshift variant)	SPAST-related disorder	GLikely benign
Select item 3027453	NM_014946.4(SPAST):c.1115del (p.Arg372fs)	SPAST (R339fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 3027438	NM_014946.4(SPAST):c.806dup (p.Tyr269Ter)	SPAST (Y236* +3 more)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3027294	NM_014946.4(SPAST):c.1184_1186dup (p.Val395_Ala396insVal)	SPAST	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3026606	NM_014946.4(SPAST):c.1036G>C (p.Gly346Arg)	SPAST (G313R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3023483	NM_014946.4(SPAST):c.909C>T (p.Thr303=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 3017618	NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)	SPAST (E156* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4	GPathogenic
Select item 3015462	NM_014946.4(SPAST):c.1419G>A (p.Gln473=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3011911	NM_014946.4(SPAST):c.609A>G (p.Pro203=)	SPAST	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 4	GLikely benign
Select item 3010987	NM_014946.4(SPAST):c.120_121delinsAA (p.Pro41Thr)	SPAST (P41T)	Indel (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3010101	NM_014946.4(SPAST):c.1329T>G (p.Val443=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 3006376	NM_014946.4(SPAST):c.1755C>T (p.Phe585=)	SPAST	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 4	GLikely benign
Select item 3005371	NM_014946.4(SPAST):c.1632C>T (p.Tyr544=)	SPAST	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GLikely benign
Select item 3004860	NM_014946.4(SPAST):c.23G>A (p.Gly8Glu)	SPAST (G8E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2994780	NM_014946.4(SPAST):c.1321+13T>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2989004	NM_014946.4(SPAST):c.922A>C (p.Thr308Pro)	SPAST (T275P +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2971426	NM_014946.4(SPAST):c.1673T>C (p.Leu558Pro)	SPAST (L525P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2968993	NM_014946.4(SPAST):c.123G>T (p.Pro41=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2968825	NM_014946.4(SPAST):c.1174-15T>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2961698	NM_014946.4(SPAST):c.312C>A (p.Ala104=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2960456	NM_014946.4(SPAST):c.24G>A (p.Gly8=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2959120	NM_014946.4(SPAST):c.1321+19A>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2955730	NM_014946.4(SPAST):c.1494-15G>A	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2954880	NM_014946.4(SPAST):c.1600C>A (p.Leu534Ile)	SPAST (L501I +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2919080	NM_014946.4(SPAST):c.1494-9T>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2917344	NM_014946.4(SPAST):c.209A>T (p.His70Leu)	SPAST (H70L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2916102	NM_014946.4(SPAST):c.1083T>C (p.Pro361=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2912987	NM_014946.4(SPAST):c.100C>A (p.Pro34Thr)	SPAST (P34T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2911738	NM_014946.4(SPAST):c.39C>T (p.Ser13=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2910138	NM_014946.4(SPAST):c.1775T>G (p.Ile592Arg)	SPAST (I560R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2908992	NM_014946.4(SPAST):c.1728+12T>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2906642	NM_014946.4(SPAST):c.1035T>G (p.Ala345=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2905367	NM_014946.4(SPAST):c.659G>A (p.Cys220Tyr)	SPAST (C219Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2904822	NM_014946.4(SPAST):c.295C>T (p.Pro99Ser)	SPAST (P99S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2904551	NM_014946.4(SPAST):c.416-17_416-15del	SPAST	Microsatellite (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2902215	NM_014946.4(SPAST):c.453A>G (p.Lys151=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2901692	NM_014946.4(SPAST):c.816A>C (p.Leu272Phe)	SPAST (L239F +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2898224	NM_014946.4(SPAST):c.402T>C (p.Asp134=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2897674	NM_014946.4(SPAST):c.1174-16C>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2890321	NM_014946.4(SPAST):c.1414-6T>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2888782	NM_014946.4(SPAST):c.1616+19G>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2888687	NM_014946.4(SPAST):c.910C>G (p.Pro304Ala)	SPAST (P304A +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2885083	NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)	SPAST (E355* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2884163	NM_014946.4(SPAST):c.528C>G (p.Arg176=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign

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