11315[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 298111	NM_007262.4(PARK7):c.-137G>A	PARK7	Single nucleotide variant	Parkinson Disease, Recessive +1 more	GBenign/Likely benign
Select item 298112	NM_007262.4(PARK7):c.-127G>C	PARK7	Single nucleotide variant	Parkinson Disease, Recessive	GUncertain significance
Select item 298113	NM_007262.5(PARK7):c.-99T>C	PARK7	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 298114	NM_007262.5(PARK7):c.-80T>A	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298115	NM_007262.5(PARK7):c.-70C>T	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 298116	NM_007262.5(PARK7):c.-30G>C	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 487088	NM_007262.5(PARK7):c.-24+75_-24+92dup	PARK7	Duplication (intron variant)	not provided	GBenign
Select item 446717	NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]	PARK7 (E163K)	Duplication (intron variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1246972	NM_007262.5(PARK7):c.-24+75_-24+92del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1243450	NM_007262.5(PARK7):c.-24+120G>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233736	NM_007262.5(PARK7):c.-24+318C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241125	NM_007262.5(PARK7):c.-24+344G>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296707	NM_007262.5(PARK7):c.-23-70T>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289619	NM_007262.5(PARK7):c.-23-50_-23-49del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1182033	NM_007262.5(PARK7):c.-23-4dup	PARK7	Duplication (intron variant)	not provided	GBenign
Select item 1234017	NM_007262.5(PARK7):c.-23-4del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1229912	NM_007262.5(PARK7):c.-23-5_-23-4del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 298117	NM_007262.5(PARK7):c.-22C>T	PARK7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 650723	NC_000001.10:g.(?_8022836)_(8031035_?)dup	PARK7	Duplication	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1015099	NM_007262.5(PARK7):c.16G>T (p.Ala6Ser)	PARK7 (A6S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 643343	NM_007262.5(PARK7):c.28C>G (p.Leu10Val)	PARK7 (L10V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2038134	NM_007262.5(PARK7):c.54G>A (p.Glu18=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 963192	NM_007262.5(PARK7):c.56C>T (p.Thr19Met)	PARK7 (T19M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298118	NM_007262.5(PARK7):c.59T>C (p.Val20Ala)	PARK7 (V20A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 806044	NM_007262.5(PARK7):c.67G>A (p.Val23Ile)	PARK7 (V23I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298119	NM_007262.5(PARK7):c.73G>A (p.Val25Ile)	PARK7 (V25I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 7065	NM_007262.5(PARK7):c.78G>A (p.Met26Ile)	PARK7 (M26I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1399835	NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)	PARK7 (R28*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1319906	NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)	PARK7 (R28Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 804432	NM_007262.5(PARK7):c.90+1dup	PARK7	Duplication (splice donor variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 1267442	NM_007262.5(PARK7):c.91-109C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 874550	NM_007262.5(PARK7):c.91-11C>T	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1078275	NM_007262.5(PARK7):c.91-5C>T	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1988053	NM_007262.5(PARK7):c.91-4G>C	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 534230	NM_007262.5(PARK7):c.91-4G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 874551	NM_007262.5(PARK7):c.91A>G (p.Ile31Val)	PARK7 (I31V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2742576	NM_007262.5(PARK7):c.96G>A (p.Lys32=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 806045	NM_007262.5(PARK7):c.101C>T (p.Thr34Ile)	PARK7 (T34I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049252	NM_007262.5(PARK7):c.103G>A (p.Val35Ile)	PARK7 (V35I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 573287	NM_007262.5(PARK7):c.105dup (p.Ala36fs)	PARK7 (A36fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 7069	NM_007262.5(PARK7):c.115G>T (p.Ala39Ser)	PARK7 (A39S)	Single nucleotide variant (missense variant)	Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1	GPathogenic
Select item 873319	NM_007262.5(PARK7):c.133C>T (p.Gln45Ter)	PARK7 (Q45*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GPathogenic
Select item 3208653	NM_007262.5(PARK7):c.141C>G (p.Ser47Arg)	PARK7 (S47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202253	NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)	PARK7 (R48C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 703804	NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)	PARK7 (A56T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2331855	NM_007262.5(PARK7):c.167C>T (p.Ala56Val)	PARK7 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623671	NM_007262.5(PARK7):c.189dup (p.Glu64fs)	PARK7 (E64fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 447914	NM_007262.5(PARK7):c.191_192del (p.Glu64fs)	PARK7 (E64fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 7067	NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)	PARK7 (E64D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 1279261	NM_007262.5(PARK7):c.192+238A>C	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294482	NM_007262.5(PARK7):c.192+331C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212406	NM_007262.5(PARK7):c.193-279A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239412	NM_007262.5(PARK7):c.193-149A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276080	NM_007262.5(PARK7):c.193-86A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584372	NC_000001.11:g.(?_7969325)_(7969424_?)del	PARK7	Deletion	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 1581945	NM_007262.5(PARK7):c.193-13dup	PARK7	Duplication (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 1547969	NM_007262.5(PARK7):c.193-17G>A	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1510243	NM_007262.5(PARK7):c.198A>G (p.Pro66=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 623672	NM_007262.5(PARK7):c.218C>T (p.Pro73Leu)	PARK7 (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298120	NM_007262.5(PARK7):c.223G>A (p.Gly75Ser)	PARK7 (G75S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1365948	NM_007262.5(PARK7):c.233G>A (p.Gly78Asp)	PARK7 (G78D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 298121	NM_007262.5(PARK7):c.234C>T (p.Gly78=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7 +2 more	GBenign/Likely benign
Select item 675657	NM_007262.5(PARK7):c.252+8dup	PARK7	Duplication (intron variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GLikely benign
Select item 2035342	NM_007262.5(PARK7):c.252+8A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 1535683	NM_007262.5(PARK7):c.252+18A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7	GBenign
Select item 1227164	NM_007262.5(PARK7):c.252+30T>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684093	NM_007262.5(PARK7):c.252+46dup	PARK7	Duplication (intron variant)	not provided	GLikely benign
Select item 1267386	NM_007262.5(PARK7):c.252+46del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1206686	NM_007262.5(PARK7):c.252+45_252+46del	PARK7	Deletion (intron variant)	not provided	GLikely benign
Select item 1267406	NM_007262.5(PARK7):c.252+45G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248894	NM_007262.5(PARK7):c.252+45_252+46insA	PARK7	Insertion (intron variant)	not provided	GBenign
Select item 1275885	NM_007262.5(PARK7):c.252+46G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186557	NM_007262.5(PARK7):c.252+47A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300812	NM_007262.5(PARK7):c.252+80dup	PARK7	Duplication (intron variant)	not provided	GLikely benign
Select item 1238776	NM_007262.5(PARK7):c.252+194del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1183743	NM_007262.5(PARK7):c.252+193_252+194del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1255080	NM_007262.5(PARK7):c.253-109A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227703	NM_007262.5(PARK7):c.253-98G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252441	NM_007262.5(PARK7):c.253-31C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338986	NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)	PARK7 (S85P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1468432	NM_007262.5(PARK7):c.271A>G (p.Ile91Val)	PARK7 (I91V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 2919644	NM_007262.5(PARK7):c.273A>C (p.Ile91=)	PARK7	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign

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