6687[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 154535	GRCh38/hg38 16q24.3(chr16:89217281-89536982)x1	ANKRD11, LOC100287036 +37 more	Copy number loss	See cases	GPathogenic
Select item 59541	GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1	ANKRD11, LOC100287036 +35 more	Copy number loss	See cases	GPathogenic
Select item 155623	GRCh38/hg38 16q24.3(chr16:89339007-89534853)x1	ANKRD11, LOC101927817 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2503470	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 2503471	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 149227	GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3	ANKRD11, CHMP1A +27 more	Copy number gain	See cases	GUncertain significance
Select item 1261810	NC_000016.10:g.89508168G>A	LOC101927863, SPG7	Single nucleotide variant	not provided	GBenign
Select item 1228084	NC_000016.10:g.89508194dup	LOC101927863, LOC130059818 +1 more	Duplication	not provided	GBenign
Select item 1292099	NC_000016.10:g.89508277G>C	LOC101927863, LOC130059818 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1202937	NC_000016.10:g.89508278G>C	LOC101927863, LOC130059818 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1209194	NC_000016.10:g.89508295A>C	LOC101927863, LOC130059818 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 3236324	Single allele	LOC130059818, LOC130059819 +3 more	Deletion	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 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 193253	NM_003119.4(SPG7):c.1A>G (p.Met1Val)	LOC130059818, SPG7 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 7 +2 more	GPathogenic/Likely pathogenic
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 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 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 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 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 2972495	NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)	LOC130059818, SPG7	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia 7	GUncertain significance
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 697847	NM_003119.4(SPG7):c.9G>A (p.Val3=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 139252	NM_003119.4(SPG7):c.9G>T (p.Val3=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7 +3 more	GBenign/Likely 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 808154	NM_003119.4(SPG7):c.13C>T (p.Leu5=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided	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 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 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 870871	NM_003119.4(SPG7):c.19C>A (p.Leu7Met)	SPG7, LOC130059818 (L7M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515759	NM_003119.4(SPG7):c.21G>A (p.Leu7=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 989039	NM_003119.4(SPG7):c.39_63del (p.Gly14fs)	LOC130059818, SPG7 (G14fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
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 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 3026252	NM_003119.4(SPG7):c.43C>T (p.Pro15Ser)	LOC130059818, SPG7 (P15S)	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 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 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 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 1049833	NM_003119.4(SPG7):c.50C>A (p.Pro17Gln)	LOC130059818, SPG7 (P17Q)	Single nucleotide variant (missense variant)	not provided	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 448474	NM_003119.4(SPG7):c.53G>T (p.Gly18Val)	LOC130059818, SPG7 (G18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 514613	NM_003119.4(SPG7):c.57T>C (p.Pro19=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 215220	NM_003119.4(SPG7):c.58C>T (p.Arg20Trp)	LOC130059818, SPG7 (R20W)	Single nucleotide variant (missense variant)	not provided	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 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 1027420	NM_003119.4(SPG7):c.73_80del (p.Pro25fs)	SPG7, LOC130059818 (P25fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GPathogenic
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 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 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 2573497	NM_003119.4(SPG7):c.82G>A (p.Ala28Thr)	SPG7, LOC130059818 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 646516	NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)	LOC130059818, SPG7 (W29*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
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 215199	NM_003119.4(SPG7):c.89G>A (p.Ser30Asn)	LOC130059818, SPG7 (S30N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +1 more	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 215200	NM_003119.4(SPG7):c.95G>A (p.Gly32Glu)	LOC130059818, SPG7 (G32E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 792608	NM_003119.4(SPG7):c.99C>T (p.Phe33=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 1184463	NM_003119.4(SPG7):c.106_110del (p.Pro37fs)	LOC130059818, SPG7 (P37fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 7	GLikely pathogenic
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 139253	NM_003119.4(SPG7):c.120G>A (p.Gly40=)	SPG7, LOC130059818	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 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 3234811	NM_003119.4(SPG7):c.139A>G (p.Arg47Gly)	LOC130059818, SPG7 (R47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 321275	NM_003119.4(SPG7):c.141G>A (p.Arg47=)	LOC130059818, SPG7	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 7	GUncertain significance
Select item 465172	NM_003119.4(SPG7):c.144T>G (p.Pro48=)	LOC130059818, SPG7	Single nucleotide variant (synonymous 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 805515	NM_003119.4(SPG7):c.152A>T (p.Asp51Val)	LOC130059818, SPG7 (D51V)	Single nucleotide variant (missense variant)	not provided	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 639021	NM_003119.4(SPG7):c.161A>G (p.Glu54Gly)	SPG7, LOC130059818 (E54G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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