ClinVar for Gene (Select 6683) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1353

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Hereditary spastic paraplegia 4	GLikely 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
Select item 2883989	NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)	SPAST (A393P +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2883648	NM_014946.4(SPAST):c.786C>T (p.Gly262=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2879931	NM_014946.4(SPAST):c.683-12T>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2875726	NM_014946.4(SPAST):c.638A>G (p.Asn213Ser)	SPAST (N212S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2865600	NM_014946.4(SPAST):c.939_943del (p.Asp313fs)	SPAST (D313fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2865381	NM_014946.4(SPAST):c.1536+27del	SPAST	Deletion (intron variant)	Hereditary spastic paraplegia 4	GBenign
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 2861698	NM_014946.4(SPAST):c.217del (p.Leu73fs)	SPAST (L73fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2859152	NM_014946.4(SPAST):c.1537-10T>G	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2857132	NM_014946.4(SPAST):c.1614dup (p.Arg539Ter)	SPAST (R507* +3 more)	Duplication (nonsense)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2855418	NM_014946.4(SPAST):c.1624G>C (p.Asp542His)	SPAST (D509H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2854252	NM_014946.4(SPAST):c.1245+2_1245+4dup	SPAST	Duplication (splice donor variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2846138	NM_014946.4(SPAST):c.207_222dup (p.Phe75fs)	SPAST (F75fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2842830	NM_014946.4(SPAST):c.296C>T (p.Pro99Leu)	SPAST (P99L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2838084	NM_014946.4(SPAST):c.1322-16C>G	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2836839	NM_014946.4(SPAST):c.916A>G (p.Thr306Ala)	SPAST (T305A +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2833014	NC_000002.12:g.32154379_32154380insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAATCTAGATGAGA	SPAST	Insertion	Hereditary spastic paraplegia 4	GPathogenic
Select item 2829934	NM_014946.4(SPAST):c.818C>A (p.Ser273Tyr)	SPAST (S272Y +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2818732	NM_014946.4(SPAST):c.369dup (p.Phe124fs)	SPAST (F124fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2818589	NM_014946.4(SPAST):c.149T>C (p.Leu50Pro)	SPAST (L50P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2817060	NM_014946.4(SPAST):c.651C>A (p.Asn217Lys)	SPAST (N217K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2816768	NM_014946.4(SPAST):c.763dup (p.Thr255fs)	SPAST (T254fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2816402	NM_014946.4(SPAST):c.1461T>G (p.Asn487Lys)	SPAST (N454K +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2813720	NM_014946.4(SPAST):c.1563del (p.Leu522fs)	SPAST (L489fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2811936	NM_014946.4(SPAST):c.1281T>G (p.Phe427Leu)	SPAST (F394L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2810687	NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)	SPAST (H423Y +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2810574	NM_014946.4(SPAST):c.913A>G (p.Thr305Ala)	SPAST (T273A +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2810130	NM_014946.4(SPAST):c.587-14T>G	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2809157	NM_014946.4(SPAST):c.682+20C>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2797106	NM_014946.4(SPAST):c.1796A>C (p.Gln599Pro)	SPAST (Q566P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2795807	NM_014946.4(SPAST):c.1099-17A>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2792593	NM_014946.4(SPAST):c.234C>A (p.Leu78=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2790806	NM_014946.4(SPAST):c.683-16A>G	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2789422	NM_014946.4(SPAST):c.208C>A (p.His70Asn)	SPAST (H70N)	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 2782320	NM_014946.4(SPAST):c.57G>C (p.Pro19=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2772448	NM_014946.4(SPAST):c.1723del (p.Ser575fs)	SPAST (Q519fs +4 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2769824	NM_014946.4(SPAST):c.871-29_871-9del	SPAST	Deletion (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2769586	NM_014946.4(SPAST):c.1493+9A>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2767964	NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)	SPAST (T356I +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2761415	NM_014946.4(SPAST):c.411_412dup (p.Lys138fs)	SPAST (K138fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2760492	NM_014946.4(SPAST):c.1240A>C (p.Lys414Gln)	SPAST (K381Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2760002	NM_014946.4(SPAST):c.1565T>C (p.Leu522Ser)	SPAST (L489S +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2758764	NM_014946.4(SPAST):c.1537-2A>C	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2751646	NM_014946.4(SPAST):c.1562T>A (p.Leu521Gln)	SPAST (L488Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2744779	NM_014946.4(SPAST):c.1332T>C (p.Asp444=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GLikely benign
Select item 2744377	NM_014946.4(SPAST):c.167C>G (p.Pro56Arg)	SPAST (P56R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2736589	NM_014946.4(SPAST):c.503-8dup	SPAST	Duplication (intron variant)	Hereditary spastic paraplegia 4	GBenign
Select item 2734160	NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)	SPAST (T583I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4	GLikely pathogenic

<< First< Prev

Page of 14