ClinVar for Gene (Select 6687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370059	NM_003119.4(SPG7):c.1118T>C (p.Met373Thr)	SPG7 (M373T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365367	NM_003119.4(SPG7):c.663G>C (p.Lys221Asn)	SPG7 (K221N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365360	NM_003119.4(SPG7):c.1310T>G (p.Leu437Arg)	SPG7 (L437R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362671	NM_003119.4(SPG7):c.2T>C (p.Met1Thr)	LOC130059818, SPG7 (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3362044	NM_003119.4(SPG7):c.1531G>A (p.Glu511Lys)	SPG7 (E511K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361814	NM_003119.4(SPG7):c.82G>C (p.Ala28Pro)	SPG7 (A28P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360503	NM_003119.4(SPG7):c.1168G>A (p.Val390Met)	SPG7 (V390M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345574	NM_003119.4(SPG7):c.2062_2063delinsTA (p.Arg688Ter)	SPG7 (R688*)	Indel (nonsense)	SPG7-related disorder	GLikely pathogenic
Select item 3345294	NM_003119.4(SPG7):c.266_269del (p.Val89fs)	SPG7 (V89fs)	Deletion (frameshift variant)	SPG7-related disorder	GLikely pathogenic
Select item 3344747	NM_003119.4(SPG7):c.1373C>T (p.Ala458Val)	SPG7 (A458V)	Single nucleotide variant (missense variant)	SPG7-related disorder	GUncertain significance
Select item 3343516	NM_003119.4(SPG7):c.859T>C (p.Phe287Leu)	SPG7 (F287L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343421	NM_003119.4(SPG7):c.1146T>G (p.Ile382Met)	SPG7 (I382M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342218	NM_003119.4(SPG7):c.1476C>G (p.His492Gln)	SPG7 (H492Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339196	NM_003119.4(SPG7):c.446C>T (p.Ala149Val)	SPG7 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339018	NM_003119.4(SPG7):c.776G>A (p.Gly259Glu)	SPG7 (G259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338920	NM_003119.4(SPG7):c.625G>A (p.Ala209Thr)	SPG7 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338432	GRCh37/hg19 16q24.3(chr16:89611055-89617017)x0	SPG7	Copy number loss	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3338090	NM_003119.4(SPG7):c.1450_1459del	SPG7	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3338079	NM_003119.4(SPG7):c.1719del (p.His574fs)	SPG7 (H574fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3336571	NM_003119.4(SPG7):c.2081G>A (p.Gly694Asp)	SPG7 (G694D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336519	NM_003119.4(SPG7):c.1594G>A (p.Ala532Thr)	SPG7 (A532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336409	NM_003119.4(SPG7):c.680G>A (p.Arg227Gln)	SPG7 (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336261	NM_003119.4(SPG7):c.1892_1906dup (p.Ser635_Glu636insGlyGlyArgAlaSer)	SPG7	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3322179	NM_003119.4(SPG7):c.49C>G (p.Pro17Ala)	LOC130059818, SPG7 (P17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322178	NM_003119.4(SPG7):c.472C>T (p.Leu158Phe)	SPG7 (L158F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322177	NM_003119.4(SPG7):c.1945G>A (p.Asp649Asn)	SPG7 (D649N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322176	NM_003119.4(SPG7):c.1874G>A (p.Arg625Gln)	SPG7 (R625Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256958	NM_003119.4(SPG7):c.1522C>T (p.Arg508Cys)	SPG7 (R508C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256736	NM_003119.4(SPG7):c.1417C>T (p.Arg473Trp)	SPG7 (R473W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3243430	NC_000016.9:g.(?_89583809)_(89613188_?)dup	SPG7	Duplication	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3243429	NC_000016.9:g.(?_89574826)_(89623501_?)dup	SPG7	Duplication	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3243428	NC_000016.9:g.(?_89590394)_(89599064_?)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3243426	NC_000016.9:g.(?_89574826)_(89577020_?)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3243425	NC_000016.9:g.(?_89576878)_(89577020_?)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3243424	NC_000016.9:g.(?_89619367)_(89619563_?)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3243423	NC_000016.9:g.(?_89574826)_(89575028_?)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3243422	NC_000016.9:g.(?_89556653)_(89623501_?)del	ANKRD11, SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243326	NC_000016.9:g.(?_89556653)_(89577020_?)del	ANKRD11, SPG7	Deletion	KBG syndrome	GUncertain significance
Select item 3242469	NM_003119.4(SPG7):c.3G>A (p.Met1Ile)	LOC130059818, SPG7 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3239180	NM_003119.4(SPG7):c.421C>T (p.Arg141Trp)	SPG7 (R141W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236328	NM_003119.4(SPG7):c.2163C>G (p.Asn721Lys)	SPG7 (N721K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236327	NM_003119.4(SPG7):c.1671del (p.Lys559fs)	SPG7 (K559fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236324	Single allele	LOC130059818, LOC130059819 +3 more	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3236323	NM_003119.4(SPG7):c.2074A>G (p.Ser692Gly)	SPG7 (S692G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236321	NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)	SPG7 (Y547*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236320	NM_003119.4(SPG7):c.862-3C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236319	NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)	SPG7 (L437P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236318	NM_003119.4(SPG7):c.1A>C (p.Met1Leu)	LOC130059818, SPG7 (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7	GPathogenic
Select item 3236317	NM_003119.4(SPG7):c.1779+1G>T	SPG7	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236316	NM_003119.4(SPG7):c.654del (p.Asn218fs)	SPG7 (N218fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236315	NM_003119.4(SPG7):c.1508C>T (p.Thr503Ile)	SPG7 (T503I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236314	NM_003119.4(SPG7):c.1433_1441del (p.Asp478_Thr481delinsAla)	SPG7	Deletion (inframe_indel)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236312	Single allele	LOC130059820, LOC130059821 +1 more	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3236302	NM_003119.4(SPG7):c.1879T>C (p.Cys627Arg)	SPG7 (C627R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236299	NM_003119.4(SPG7):c.2096T>C (p.Met699Thr)	SPG7 (M699T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236294	NM_003119.4(SPG7):c.1745G>T (p.Gly582Val)	SPG7 (G582V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236293	NM_003119.4(SPG7):c.784del (p.Ala262fs)	SPG7 (A262fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236292	Single allele	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3236289	NM_003119.4(SPG7):c.538G>A (p.Val180Met)	SPG7 (V180M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3236288	NM_003119.4(SPG7):c.1075dup (p.Ala359fs)	SPG7 (A359fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236287	NM_003119.4(SPG7):c.292_295del (p.Thr98fs)	SPG7 (T98fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236286	Single allele	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 3236283	NM_003119.4(SPG7):c.183+1_184-1del	LOC130059818, LOC130059819 +1 more	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 7	GPathogenic
Select item 3236279	NM_003119.4(SPG7):c.1454_1482del (p.Arg485fs)	SPG7 (R485fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3236278	NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)	SPG7 (E179*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 3234811	NM_003119.4(SPG7):c.139A>G (p.Arg47Gly)	LOC130059818, SPG7 (R47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234655	NM_003119.4(SPG7):c.197G>A (p.Arg66Lys)	SPG7 (R66K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3220907	NM_003119.4:c.[1049_1077del];[1045G>A]			Hereditary spastic paraplegia 7	GPathogenic
Select item 3169010	NM_003119.4(SPG7):c.633G>A (p.Met211Ile)	SPG7 (M211I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169007	NM_003119.4(SPG7):c.229G>A (p.Gly77Arg)	SPG7 (G77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169006	NM_003119.4(SPG7):c.211A>G (p.Thr71Ala)	SPG7 (T71A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169005	NM_003119.4(SPG7):c.1924G>A (p.Glu642Lys)	SPG7 (E642K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3169004	NM_003119.4(SPG7):c.1682A>T (p.Lys561Met)	SPG7 (K561M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169003	NM_003119.4(SPG7):c.1304A>G (p.Gln435Arg)	SPG7 (Q435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169002	NM_003119.4(SPG7):c.1280C>A (p.Thr427Lys)	SPG7 (T427K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068999	NC_000016.9:g.(89590656_89592736)_(89624175_?)dup	SPG7	Duplication	not specified	GUncertain significance
Select item 3066377	NM_003119.4(SPG7):c.1853C>T (p.Thr618Ile)	SPG7 (T618I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3066376	NM_003119.4(SPG7):c.377-7G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3063464	GRCh37/hg19 16q24.3(chr16:89472880-89612756)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063397	GRCh37/hg19 16q24.3(chr16:89505521-89592077)x1	ANKRD11, LOC101927817 +1 more	Copy number loss	not specified	GPathogenic
Select item 3053852	NM_003119.4(SPG7):c.1155C>T (p.Leu385=)	SPG7	Single nucleotide variant (synonymous variant)	SPG7-related disorder	GLikely benign
Select item 3052221	NM_003119.4(SPG7):c.184-3C>A	SPG7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3041223	NM_003119.4(SPG7):c.1324+4224C>T	SPG7 (R474W)	Single nucleotide variant (missense variant +1 more)	SPG7-related disorder	GLikely benign
Select item 3040651	NM_003119.4(SPG7):c.1324+4208G>A	SPG7	Single nucleotide variant (synonymous variant +1 more)	SPG7-related disorder	GLikely benign
Select item 3026252	NM_003119.4(SPG7):c.43C>T (p.Pro15Ser)	LOC130059818, SPG7 (P15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025927	NM_003119.4(SPG7):c.1324+4321A>G	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3025553	NM_003119.4(SPG7):c.210T>A (p.Pro70=)	SPG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023838	NM_003119.4(SPG7):c.1497C>A (p.Thr499=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3017046	NM_003119.4(SPG7):c.1324+15G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3016837	NM_003119.4(SPG7):c.246A>G (p.Gln82=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3015659	NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)	SPG7 (P750S)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3015623	NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)	SPG7 (G276R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3015348	NM_003119.4(SPG7):c.1645G>A (p.Val549Met)	SPG7 (V549M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 3015321	NM_003119.4(SPG7):c.192A>G (p.Gln64=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 3011002	NM_003119.4(SPG7):c.1728G>C (p.Ser576=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2995990	NM_003119.4(SPG7):c.183+12C>A	LOC130059818, SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2995534	NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)	SPG7 (S539C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance

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