ClinVar for MedGen (Select 339552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3338085	NM_001048174.2(MUTYH):c.1053del (p.Gln351fs)	MUTYH (Q236fs +12 more)	Deletion (frameshift variant +1 more)	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 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 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 3220907	NM_003119.4:c.[1049_1077del];[1045G>A]			Hereditary spastic paraplegia 7	GPathogenic
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 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
Select item 2994114	NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)	SPG7 (A590D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2972495	NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)	LOC130059818, SPG7	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2969882	NM_003119.4(SPG7):c.630G>A (p.Leu210=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2965421	NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)	SPG7 (F324L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2963126	NM_003119.4(SPG7):c.792C>T (p.Gly264=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2962679	NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)	SPG7 (A708V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2914800	NM_003119.4(SPG7):c.248A>G (p.His83Arg)	SPG7 (H83R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2914556	NM_003119.4(SPG7):c.1324+11G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2911512	NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)	LOC130059818, SPG7 (P34T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2911138	NM_003119.4(SPG7):c.861+20G>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2910085	NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)	SPG7 (V571F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2903628	NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)	SPG7 (R207Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2901289	NM_003119.4(SPG7):c.1150+9T>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2898754	NM_003119.4(SPG7):c.619-10T>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2898676	NM_003119.4(SPG7):c.861T>C (p.Phe287=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2895974	NM_003119.4(SPG7):c.619-20C>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2891051	NM_003119.4(SPG7):c.16C>T (p.Leu6=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2890638	NM_003119.4(SPG7):c.1552+4_1552+11dup	SPG7	Duplication (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2889594	NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)	SPG7 (A200T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2888373	NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)	SPG7	Duplication (inframe_insertion)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2886262	NM_003119.4(SPG7):c.2322C>T (p.Gly774=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2884757	NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)	LOC130059818, SPG7 (L4P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2883687	NM_003119.4(SPG7):c.372C>T (p.Asp124=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2882994	NM_003119.4(SPG7):c.402C>T (p.Asp134=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2878864	NM_003119.4(SPG7):c.759-11del	SPG7	Deletion (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2878281	NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)	SPG7 (I407L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2876489	NM_003119.4(SPG7):c.132G>A (p.Met44Ile)	LOC130059818, SPG7 (M44I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2872186	NM_003119.4(SPG7):c.339G>A (p.Lys113=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2871473	NM_003119.4(SPG7):c.1668T>G (p.Thr556=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2866779	NM_003119.4(SPG7):c.1325-12_1325-11del	SPG7	Microsatellite (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2866012	NM_003119.4(SPG7):c.1936+17C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2849468	NM_003119.4(SPG7):c.943C>T (p.His315Tyr)	SPG7 (H315Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2847317	NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)	SPG7 (S802Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2842350	NM_003119.4(SPG7):c.759-15T>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2832073	NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)	SPG7 (E636A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2825877	NM_003119.4(SPG7):c.672G>A (p.Glu224=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2808061	NM_003119.4(SPG7):c.1324+7G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2808060	NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)	SPG7 (G414D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2803662	NM_003119.4(SPG7):c.988-17T>C	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2801755	NM_003119.4(SPG7):c.273_274del (p.Trp92fs)	SPG7 (W92fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic/Likely pathogenic
Select item 2798146	NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)	SPG7 (L471P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2795682	NM_003119.4(SPG7):c.1324+20G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2792775	NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)	SPG7 (E567D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2786918	NM_003119.4(SPG7):c.732C>G (p.Ser244=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2785830	NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)	SPG7 (K355R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2785475	NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)	LOC130059818, SPG7 (S30R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2777598	NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)	LOC130059818, SPG7 (G18S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2768115	NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)	SPG7 (F99L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance

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