SPAST[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 60107	GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1	DPY30, LINC01946 +19 more	Copy number loss	See cases	GPathogenic
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 219058	Single allele	LOC129933453, LOC129933454 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219095	Single allele	DPY30, LOC129933452 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219076	Single allele	LOC129933454, LOC129933455 +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219071	Single allele	LOC129933454, LOC129933455 +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219063	Single allele	LOC129933454, LOC129933455 +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219074	NC_000002.12:g.32063148_32067182del	LOC129933454, LOC129933455 +1 more	Deletion (genic upstream transcript variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 671069	NM_014946.3(SPAST):c.-423C>A	LOC129933454, SPAST	Single nucleotide variant	not provided	GBenign
Select item 1177858	NC_000002.12:g.32063480G>C	SPAST	Single nucleotide variant	not provided	GLikely benign
Select item 417454	NC_000002.12:g.(?_32063611)_(32064246_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
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 219086	Single allele	LOC129933455, SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 335823	NM_014946.4(SPAST):c.-176C>T	SPAST	Single nucleotide variant (5 prime UTR variant)	Spastic paraplegia, autosomal dominant	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 5674	NM_014946.4(SPAST):c.-112_415+1779del	LOC129933455, SPAST	Deletion (splice donor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 335825	NM_014946.4(SPAST):c.-104_-102del	SPAST	Deletion (5 prime UTR variant)	Spastic paraplegia, autosomal dominant	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 583912	NC_000002.12:g.(?_32063812)_(32064266_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 468557	NC_000002.12:g.(?_32063812)_(32154516_?)del	LOC129933455, SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 468556	NC_000002.12:g.(?_32063812)_(32116232_?)del	LOC129933455, SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
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 267324	NC_000002.12:g.(?_32063826)_(32087584_?)del	LOC129933455, SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 1703982	NM_014946.4(SPAST):c.-4G>A	SPAST	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2650803	NM_014946.4(SPAST):c.1A>G (p.Met1Val)	SPAST (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +1 more	GUncertain significance
Select item 1917540	NM_014946.4(SPAST):c.3G>C (p.Met1Ile)	SPAST (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 468574	NM_014946.4(SPAST):c.6_7del (p.Pro4fs)	SPAST (P4fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 1693809	NM_014946.4(SPAST):c.10C>T (p.Pro4Ser)	SPAST (P4S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1344038	NM_014946.4(SPAST):c.10C>G (p.Pro4Ala)	SPAST (P4A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2055101	NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)	SPAST (P4R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2181952	NM_014946.4(SPAST):c.12G>T (p.Pro4=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2862316	NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)	SPAST (G6*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2132633	NM_014946.4(SPAST):c.17G>A (p.Gly6Glu)	SPAST (G6E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 392495	NM_014946.4(SPAST):c.19C>A (p.Arg7=)	SPAST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1430837	NM_014946.4(SPAST):c.20G>T (p.Arg7Leu)	SPAST (R7L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1384983	NM_014946.4(SPAST):c.20G>C (p.Arg7Pro)	SPAST (R7P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
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 2960456	NM_014946.4(SPAST):c.24G>A (p.Gly8=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2420948	NM_014946.4(SPAST):c.26A>G (p.Lys9Arg)	SPAST (K9R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 987172	NM_014946.4(SPAST):c.27dup (p.Lys10fs)	SPAST (K10fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1896393	NM_014946.4(SPAST):c.27G>A (p.Lys9=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 1303472	NM_014946.4(SPAST):c.29A>G (p.Lys10Arg)	SPAST (K10R)	Single nucleotide variant (missense variant)	not provided	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 2230880	NM_014946.4(SPAST):c.34G>A (p.Gly12Ser)	SPAST (G12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405016	NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)	SPAST (S13T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2071428	NM_014946.4(SPAST):c.40G>A (p.Gly14Ser)	SPAST (G14S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1428531	NM_014946.4(SPAST):c.51C>G (p.Ser17Arg)	SPAST (S17R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 1810212	NM_014946.4(SPAST):c.55C>G (p.Pro19Ala)	SPAST (P19A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2782320	NM_014946.4(SPAST):c.57G>C (p.Pro19=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 1879460	NM_014946.4(SPAST):c.59_61delinsA (p.Val20fs)	SPAST (V20fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1131090	NM_014946.4(SPAST):c.60G>T (p.Val20=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 988968	NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)	SPAST (L29fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 696978	NM_014946.4(SPAST):c.64C>G (p.Pro22Ala)	SPAST (P22A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GLikely benign
Select item 2085843	NM_014946.4(SPAST):c.67A>G (p.Arg23Gly)	SPAST (R23G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 988969	NM_014946.4(SPAST):c.72_90dup (p.Pro31fs)	SPAST (P31fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 682523	NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)	SPAST (R23K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 1964668	NM_014946.4(SPAST):c.70C>T (p.Pro24Ser)	SPAST (P24S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1901782	NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)	SPAST (P25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1807011	NM_014946.4(SPAST):c.73C>T (p.Pro25Ser)	SPAST (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052693	NM_014946.4(SPAST):c.75G>A (p.Pro25=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2078849	NM_014946.4(SPAST):c.78C>T (p.Pro26=)	SPAST	Single nucleotide variant (synonymous variant)	SPAST-related condition +1 more	GLikely benign
Select item 860364	NM_014946.4(SPAST):c.80C>T (p.Pro27Leu)	SPAST (P27L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 964686	NM_014946.4(SPAST):c.83G>C (p.Cys28Ser)	SPAST (C28S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2788448	NM_014946.4(SPAST):c.87G>A (p.Leu29=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 941898	NM_014946.4(SPAST):c.93dup (p.Ala32fs)	SPAST (A32fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 657662	NM_014946.4(SPAST):c.89C>T (p.Ala30Val)	SPAST (A30V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 1982317	NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)	SPAST	Duplication (inframe_indel +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 698831	NM_014946.4(SPAST):c.96C>G (p.Ala32=)	SPAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421301	NM_014946.4(SPAST):c.97C>T (p.Pro33Ser)	SPAST (P33S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1694951	NM_014946.4(SPAST):c.97C>G (p.Pro33Ala)	SPAST (P33A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 391244	NM_014946.4(SPAST):c.98C>T (p.Pro33Leu)	SPAST (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763234	NM_014946.4(SPAST):c.99T>A (p.Pro33=)	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 1038883	NM_014946.4(SPAST):c.101C>T (p.Pro34Leu)	SPAST (P34L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 1162919	NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)	SPAST (G37R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GConflicting classifications of pathogenicity
Select item 989164	NM_014946.4(SPAST):c.109G>T (p.Gly37Trp)	SPAST (G37W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2584735	NM_014946.4(SPAST):c.113dup (p.Ala39fs)	SPAST (A39fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
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 409029	NM_014946.4(SPAST):c.113C>G (p.Pro38Arg)	SPAST (P38R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	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 1933721	NM_014946.4(SPAST):c.117C>G (p.Ala39=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2068071	NM_014946.4(SPAST):c.119C>T (p.Pro40Leu)	SPAST (P40L)	Single nucleotide variant (missense variant)	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 2968993	NM_014946.4(SPAST):c.123G>T (p.Pro41=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2576942	NM_014946.4(SPAST):c.124C>A (p.Pro42Thr)	SPAST (P42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109426	NM_014946.4(SPAST):c.124C>G (p.Pro42Ala)	SPAST (P42A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 744691	NM_014946.4(SPAST):c.126C>G (p.Pro42=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2634603	NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)	SPAST (E43Q)	Single nucleotide variant (missense variant)	SPAST-related condition +1 more	GConflicting classifications of pathogenicity
Select item 409028	NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)	SPAST (E43*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2148443	NM_014946.4(SPAST):c.129G>A (p.Glu43=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
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 2168183	NM_014946.4(SPAST):c.132G>T (p.Ser44=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign

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