Related gene-specific medical variations for Gene (Select 6687) - 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 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 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 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 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 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 3234811	NM_003119.4(SPG7):c.139A>G (p.Arg47Gly)	LOC130059818, SPG7 (R47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2995990	NM_003119.4(SPG7):c.183+12C>A	LOC130059818, SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
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 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 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 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 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 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 2684021	NM_003119.4(SPG7):c.920_925del (p.Ser307_Phe308del)	SPG7	Deletion (inframe_deletion)	not provided	GUncertain significance
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
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 2647105	NM_003119.4(SPG7):c.48C>T (p.Gly16=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637491	NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)	LOC130059818, SPG7 (P42S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	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 2627663	NM_003119.4(SPG7):c.2T>G (p.Met1Arg)	LOC130059818, SPG7 (M1R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7	GPathogenic
Select item 2573497	NM_003119.4(SPG7):c.82G>A (p.Ala28Thr)	SPG7, LOC130059818 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513393	NM_003119.4(SPG7):c.119G>T (p.Gly40Val)	LOC130059818, SPG7 (G40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436312	NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)	LOC130059818, SPG7 (P34L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2436311	NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)	SPG7 (K291R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2436310	NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)	SPG7 (N434S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2436308	NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)	SPG7 (E179Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2436307	NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)	SPG7 (L809R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2188480	NM_003119.4(SPG7):c.19C>T (p.Leu7=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2181688	NM_003119.4(SPG7):c.50C>T (p.Pro17Leu)	LOC130059818, SPG7 (P17L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2149302	NM_003119.4(SPG7):c.183+20G>T	LOC130059818, SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 2141959	NM_003119.4(SPG7):c.146C>T (p.Pro49Leu)	LOC130059818, SPG7 (P49L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2096050	NM_003119.4(SPG7):c.132G>T (p.Met44Ile)	LOC130059818, SPG7 (M44I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 2060961	NM_003119.4(SPG7):c.30C>T (p.Ala10=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 1988355	NM_003119.4(SPG7):c.28G>A (p.Ala10Thr)	LOC130059818, SPG7 (A10T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 1977206	NM_003119.4(SPG7):c.183+22dup	LOC130059818, SPG7	Duplication (intron variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 1965876	NM_003119.4(SPG7):c.78C>A (p.Gly26=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 1926899	NM_003119.4(SPG7):c.80C>A (p.Pro27Gln)	LOC130059818, SPG7 (P27Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
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 1806844	NM_003119.4(SPG7):c.1004T>G (p.Leu335Arg)	SPG7 (L335R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640686	NM_003119.4(SPG7):c.37C>G (p.Arg13Gly)	LOC130059818, SPG7 (R13G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GLikely benign
Select item 1469309	NM_003119.4(SPG7):c.28G>T (p.Ala10Ser)	LOC130059818, SPG7 (A10S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 1463228	NM_003119.4(SPG7):c.161A>T (p.Glu54Val)	LOC130059818, SPG7 (E54V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	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 1344134	NM_003119.4(SPG7):c.20_25dup (p.Leu7_Leu8dup)	LOC130059818, SPG7	Duplication (inframe_insertion)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1323646	NM_003119.4(SPG7):c.1704_1705del (p.Lys569fs)	SPG7 (K569fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 1300155	NM_003119.4(SPG7):c.1098_1125del (p.Val368fs)	SPG7 (V368fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
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 1184463	NM_003119.4(SPG7):c.106_110del (p.Pro37fs)	LOC130059818, SPG7 (P37fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 1070427	NM_003119.4(SPG7):c.2T>A (p.Met1Lys)	LOC130059818, SPG7 (M1K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1049833	NM_003119.4(SPG7):c.50C>A (p.Pro17Gln)	LOC130059818, SPG7 (P17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027420	NM_003119.4(SPG7):c.73_80del (p.Pro25fs)	SPG7, LOC130059818 (P25fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 1000172	NM_003119.4(SPG7):c.99C>G (p.Phe33Leu)	LOC130059818, SPG7 (F33L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 989134	NC_000016.9:g.(89592877_89595884)_(89599045_89611055)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 989133	NC_000016.9:g.(89579446_89590413)_(89611181_89613065)del	SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 989132	NM_003119.4(SPG7):c.1960_1963del (p.Val654fs)	SPG7 (V654fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989131	NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)	SPG7 (K593*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989128	NM_003119.4(SPG7):c.1702_1706del (p.Gln568fs)	SPG7 (Q568fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989127	NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)	SPG7 (E535*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989125	NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)	SPG7 (L512P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989124	NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu)	SPG7 (A510L)	Indel (missense variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989122	NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)	SPG7 (Q491*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989045	NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)	SPG7 (V390A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GConflicting classifications of pathogenicity
Select item 989044	NM_003119.4(SPG7):c.1162_1177dup (p.Leu393fs)	SPG7 (L393fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989043	NM_003119.4(SPG7):c.778_782delinsCCA (p.Met260fs)	SPG7 (M260fs)	Indel (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989042	NM_003119.4(SPG7):c.775_781dup (p.Thr261fs)	SPG7 (T261fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989040	NM_003119.4(SPG7):c.712A>T (p.Lys238Ter)	SPG7 (K238*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 989039	NM_003119.4(SPG7):c.39_63del (p.Gly14fs)	LOC130059818, SPG7 (G14fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
Select item 986940	NM_003119.4(SPG7):c.1867_1870del (p.Phe623fs)	SPG7 (F623fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 976105	NM_003119.4(SPG7):c.164C>A (p.Ala55Asp)	LOC130059818, SPG7 (A55D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
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 933441	NM_003119.4(SPG7):c.40G>A (p.Gly14Ser)	LOC130059818, SPG7 (G14S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 931260	NM_003119.4(SPG7):c.1150+17G>A	SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 887053	NM_003119.4(SPG7):c.183+7C>T	LOC130059818, SPG7	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 887052	NM_003119.4(SPG7):c.66G>C (p.Leu22=)	SPG7, LOC130059818	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 870872	NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)	LOC130059818, SPG7 (Q61R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 870871	NM_003119.4(SPG7):c.19C>A (p.Leu7Met)	LOC130059818, SPG7 (L7M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862744	NM_003119.4(SPG7):c.25C>T (p.Arg9Cys)	LOC130059818, SPG7 (R9C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance
Select item 854420	NM_003119.4(SPG7):c.32T>C (p.Leu11Pro)	LOC130059818, SPG7 (L11P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 808154	NM_003119.4(SPG7):c.13C>T (p.Leu5=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 792608	NM_003119.4(SPG7):c.99C>T (p.Phe33=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +1 more	GLikely benign
Select item 704845	NM_003119.4(SPG7):c.33C>T (p.Leu11=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 697847	NM_003119.4(SPG7):c.9G>A (p.Val3=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689576	NM_003119.4(SPG7):c.1779+5G>C	SPG7	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 689557	NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)	LOC130059818, SPG7 (W29*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7	GPathogenic
Select item 658452	NC_000016.10:g.(?_89508408)_(89508610_?)del	LOC130059818, SPG7	Deletion	Hereditary spastic paraplegia 7	GPathogenic
Select item 646516	NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)	LOC130059818, SPG7 (W29*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 639021	NM_003119.4(SPG7):c.161A>G (p.Glu54Gly)	SPG7, LOC130059818 (E54G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	GUncertain significance
Select item 580781	NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)	LOC130059818, SPG7	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia 7 +2 more	GUncertain significance

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