"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215198	NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)	LOC130059818, SPG7 (A2T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 580781	NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)	LOC130059818, SPG7	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 139252	NM_003119.4(SPG7):c.9G>T (p.Val3=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1344134	NM_003119.4(SPG7):c.20_25dup (p.Leu7_Leu8dup)	LOC130059818, SPG7	Duplication (inframe_insertion)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344138	NM_003119.4(SPG7):c.50C>G (p.Pro17Arg)	LOC130059818, SPG7 (P17R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 139253	NM_003119.4(SPG7):c.120G>A (p.Gly40=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1344130	NM_003119.4(SPG7):c.184-5_184-4del	SPG7	Deletion (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 215187	NM_003119.4(SPG7):c.199C>T (p.Leu67=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 215213	NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)	SPG7 (G74R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 6816	NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	SPG7 (L78*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1344137	NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)	SPG7 (Q82*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 696370	NM_003119.4(SPG7):c.250T>C (p.Leu84=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 510879	NM_003119.4(SPG7):c.516C>T (p.His172=)	SPG7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1344139	NM_003119.4(SPG7):c.618+8A>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 285368	NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)	SPG7 (R213*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 870873	NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)	SPG7 (R213Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1344141	NM_003119.4(SPG7):c.706G>A (p.Glu236Lys)	SPG7 (E236K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 700262	NM_003119.4(SPG7):c.759-6C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1344142	NM_003119.4(SPG7):c.878C>T (p.Ala293Val)	SPG7 (A293V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 217270	NM_003119.4(SPG7):c.988-1G>A	SPG7	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia +2 more	GPathogenic
Select item 139239	NM_003119.4(SPG7):c.1032C>T (p.Gly344=)	SPG7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 6819	NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SPG7 (G349S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1344124	NM_003119.4(SPG7):c.1046G>T (p.Gly349Val)	SPG7 (G349V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 411675	NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	SPG7 (G352fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia +3 more	GPathogenic
Select item 1212498	NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)	SPG7 (G352S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 198782	NM_003119.4(SPG7):c.1083G>A (p.Ala361=)	SPG7	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 533740	NM_003119.4(SPG7):c.1151-8C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1344125	NM_003119.4(SPG7):c.1207T>A (p.Cys403Ser)	SPG7 (C403S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344126	NM_003119.4(SPG7):c.1257C>T (p.Thr419=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 139240	NM_003119.4(SPG7):c.1324+10C>T	SPG7	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 258906	NM_003119.4(SPG7):c.1422C>T (p.His474=)	SPG7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1344128	NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg)	SPG7 (T481R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 411680	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	SPG7	Deletion (splice acceptor variant)	Gait ataxia +10 more	GPathogenic
Select item 139241	NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)	SPG7 (R486Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 130369	NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)	SPG7 (T503A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 989123	NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)	SPG7 (Q507*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
Select item 570831	NM_003119.4(SPG7):c.1523G>A (p.Arg508His)	SPG7 (R508H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Spastic Paraplegia, Recessive +11 more	GPathogenic/Likely pathogenic
Select item 807498	NM_003119.4(SPG7):c.1552+1G>T	SPG7	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 7 +2 more	GPathogenic/Likely pathogenic
Select item 265420	NM_003119.4(SPG7):c.1617del (p.Val540fs)	SPG7 (V540fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia +2 more	GPathogenic
Select item 215189	NM_003119.4(SPG7):c.1653C>T (p.Arg551=)	SPG7 (A26V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 188276	NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	SPG7 (K558*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 215215	NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)	SPG7 (K559* +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 217269	NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)	SPG7 (A572V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic
Select item 215223	NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)	SPG7 (S576W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GConflicting classifications of pathogenicity
Select item 1176363	NM_003119.4(SPG7):c.1728G>A (p.Ser576=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344129	NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)	SPG7 (G577A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 139245	NM_003119.4(SPG7):c.1770C>T (p.Ala590=)	SPG7 (R186C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign
Select item 932346	NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)	SPG7 (G632R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1344131	NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp)	SPG7 (R633W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 215194	NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)	SPG7 (S645T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449759	NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)	SPG7 (A647S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 1302193	NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)	SPG7 (A647V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344132	NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)	SPG7 (D650Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344133	NM_003119.4(SPG7):c.1955G>T (p.Arg652Met)	SPG7 (R652M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 217271	NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)	SPG7 (G666R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 139248	NM_003119.4(SPG7):c.2037G>A (p.Ala679=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 130370	NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)	SPG7 (R688Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 215195	NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)	SPG7 (N730D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +3 more	GBenign/Likely benign
Select item 885273	NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly)	SPG7 (D742G)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 215218	NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	SPG7 (I743T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 217268	NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)	SPG7 (P750L)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1344135	NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu)	SPG7 (P754L)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 215219	NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)	SPG7 (A759T)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7 +2 more	GConflicting classifications of pathogenicity
Select item 139249	NM_003119.4(SPG7):c.2280G>A (p.Pro760=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 139250	NM_003119.4(SPG7):c.2292C>T (p.Ile764=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 139251	NM_003119.4(SPG7):c.2295C>T (p.Asp765=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7 +3 more	GBenign/Likely benign
Select item 1344136	NM_003119.4(SPG7):c.2385G>A (p.Lys795=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance

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Items: 68