"Athena Diagnostics"[submitter] AND "SPG7"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215198	NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)	SPG7, LOC130059818 (A2T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +3 more	GConflicting classifications of pathogenicity
Select item 448474	NM_003119.4(SPG7):c.53G>T (p.Gly18Val)	LOC130059818, SPG7 (G18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630585	NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)	LOC130059818, SPG7 (W23*)	Single nucleotide variant (nonsense)	SPG7-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 960164	NM_003119.4(SPG7):c.76G>T (p.Gly26Cys)	LOC130059818, SPG7 (G26C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 239500	NM_003119.4(SPG7):c.80C>G (p.Pro27Arg)	LOC130059818, SPG7 (P27R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 805515	NM_003119.4(SPG7):c.152A>T (p.Asp51Val)	LOC130059818, SPG7 (D51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256110	NM_003119.4(SPG7):c.167G>A (p.Gly56Glu)	LOC130059818, SPG7 (G56E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215213	NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)	SPG7 (G74R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +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 7 +2 more	GPathogenic/Likely pathogenic
Select item 448473	NM_003119.4(SPG7):c.331A>G (p.Lys111Glu)	SPG7 (K111E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 424654	NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)	SPG7 (E126Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 411682	NM_003119.4(SPG7):c.376+1G>T	SPG7	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 805518	NM_003119.4(SPG7):c.619-3C>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 212294	NM_003119.4(SPG7):c.861dup (p.Asn288Ter)	SPG7 (N288*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 586671	NM_003119.4(SPG7):c.862-8C>A	SPG7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 139237	NM_003119.4(SPG7):c.881G>A (p.Arg294His)	SPG7 (R294H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GBenign
Select item 2684021	NM_003119.4(SPG7):c.920_925del (p.Ser307_Phe308del)	SPG7	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 933586	NM_003119.4(SPG7):c.934dup (p.Ala312fs)	SPG7 (A312fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 239501	NM_003119.4(SPG7):c.976_987+3del	SPG7	Deletion (splice donor variant)	Hereditary spastic paraplegia 7 +1 more	GPathogenic/Likely pathogenic
Select item 258911	NM_003119.4(SPG7):c.987+5A>G	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +2 more	GBenign
Select item 1806844	NM_003119.4(SPG7):c.1004T>G (p.Leu335Arg)	SPG7 (L335R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139239	NM_003119.4(SPG7):c.1032C>T (p.Gly344=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +3 more	GConflicting classifications of pathogenicity
Select item 436844	NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)	SPG7 (A345P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 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 411675	NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	SPG7 (G352fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 7 +3 more	GPathogenic
Select item 586669	NM_003119.4(SPG7):c.1053C>T (p.Pro351=)	SPG7	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 198782	NM_003119.4(SPG7):c.1083G>A (p.Ala361=)	SPG7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 465171	NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn)	SPG7 (S392N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806845	NM_003119.4(SPG7):c.1248G>A (p.Lys416=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +1 more	GConflicting classifications of pathogenicity
Select item 215211	NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)	SPG7 (G423S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1806847	NM_003119.4(SPG7):c.1315G>A (p.Glu439Lys)	SPG7 (E439K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139240	NM_003119.4(SPG7):c.1324+10C>T	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7 +3 more	GConflicting classifications of pathogenicity
Select item 411680	NM_003119.4(SPG7):c.1450-1_1457del	SPG7	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 7 +10 more	GPathogenic
Select item 139241	NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)	SPG7 (R486Q)	Single nucleotide variant (missense variant)	not provided +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 specified +3 more	GBenign
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic/Likely pathogenic
Select item 989126	NM_003119.4(SPG7):c.1552+2dup	SPG7	Duplication (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 808161	NM_003119.4(SPG7):c.1599G>A (p.Ala533=)	SPG7	Single nucleotide variant (synonymous variant)	not provided +2 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 +3 more	GPathogenic
Select item 217269	NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)	SPG7 (A572V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GPathogenic
Select item 139245	NM_003119.4(SPG7):c.1770C>T (p.Ala590=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +3 more	GBenign
Select item 1060812	NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)	SPG7 (R599W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 448472	NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr)	SPG7 (A603T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 220393	NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	SPG7 (S635L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 451927	NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)	SPG7 (T644I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GConflicting classifications of pathogenicity
Select item 220101	NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	SPG7 (D650N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586670	NM_003119.4(SPG7):c.2014G>C (p.Gly672Arg)	SPG7 (G672R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805516	NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)	SPG7 (F676L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 139248	NM_003119.4(SPG7):c.2037G>A (p.Ala679=)	SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +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 2684019	NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)	SPG7 (R689C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 219448	NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)	SPG7 (L695P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 411678	NM_003119.4(SPG7):c.2096dup (p.Met699fs)	SPG7 (M699fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 805517	NM_003119.4(SPG7):c.2183T>G (p.Leu728Arg)	SPG7 (L728R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 1806848	NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)	SPG7 (P749L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 139250	NM_003119.4(SPG7):c.2292C>T (p.Ile764=)	SPG7	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 7 +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 2684020	NM_003119.4(SPG7):c.2379G>T (p.Trp793Cys)	SPG7 (W793C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

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Items: 60