1650[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	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 295006	NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)	DDOST, PINK1 +1 more (N521T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign/Likely benign
Select item 295011	NM_032409.3(PINK1):c.*37A>T	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign
Select item 295013	NM_032409.3(PINK1):c.*181C>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign
Select item 295014	NM_032409.3(PINK1):c.*196T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295015	NM_032409.3(PINK1):c.*265G>T	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295018	NM_032409.3(PINK1):c.*415C>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295019	NM_032409.3(PINK1):c.*490A>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 295024	NM_032409.3(PINK1):c.*564T>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295026	NM_032409.3(PINK1):c.573_576dup	PINK1, PINK1-AS +1 more	Duplication (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 295029	NM_032409.3(PINK1):c.673_675dup	DDOST, PINK1 +1 more	Duplication (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 295030	NM_032409.3(PINK1):c.*672T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295031	NM_032409.3(PINK1):c.*725GA[4]	DDOST, PINK1 +1 more	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 295033	NM_005216.5(DDOST):c.*579dup	DDOST, PINK1-AS	Duplication (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295042	NM_005216.5(DDOST):c.*542TAAA[12]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295040	NM_005216.5(DDOST):c.575_577AAAT[4]A[11]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295039	NM_005216.5(DDOST):c.575_577AAAT[3]A[11]	PINK1-AS, DDOST	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295038	NM_005216.5(DDOST):c.575_577AAAT[4]A[7]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295037	NM_005216.5(DDOST):c.*542TAAA[14]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295036	NM_005216.5(DDOST):c.*542TAAA[13]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 295035	NM_005216.5(DDOST):c.*542TAAA[11]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295034	NM_005216.5(DDOST):c.*542TAAA[10]	PINK1-AS, DDOST	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295043	NM_005216.5(DDOST):c.*542TAAA[6]	DDOST, PINK1 +1 more	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 295041	NM_005216.5(DDOST):c.*542TAAA[8]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295047	NC_000001.11:g.20651917T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Recessive +1 more	GLikely benign
Select item 295048	NC_000001.11:g.20651922T>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Recessive +1 more	GLikely benign
Select item 295050	NM_005216.5(DDOST):c.375_376dup	DDOST, PINK1 +1 more	Duplication (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 295057	NM_005216.5(DDOST):c.*40A>G	DDOST, PINK1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 583894	NC_000001.11:g.(?_20652359)_(20661421_?)del	DDOST	Deletion	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 390276	NM_005216.5(DDOST):c.*17C>T	DDOST	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3031509	NM_005216.5(DDOST):c.*10G>A	DDOST	Single nucleotide variant (3 prime UTR variant)	DDOST-related disorder	GLikely benign
Select item 3058600	NM_005216.5(DDOST):c.3_4dup	DDOST	Duplication (3 prime UTR variant)	DDOST-related disorder	GLikely benign
Select item 797094	NM_005216.5(DDOST):c.1314C>T (p.Ser438=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1611408	NM_005216.5(DDOST):c.1305G>A (p.Lys435=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 507902	NM_005216.5(DDOST):c.1293C>T (p.His431=)	DDOST	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1985048	NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)	DDOST (F429del)	Microsatellite (inframe_deletion)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2878833	NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)	DDOST (F429L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 755581	NM_005216.5(DDOST):c.1281C>T (p.Ile427=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 585026	NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr)	DDOST (F442Y +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	Gnot provided
Select item 1951764	NM_005216.5(DDOST):c.1263G>C (p.Gly421=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2149781	NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)	DDOST (A415T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 510876	NM_005216.5(DDOST):c.1242C>T (p.Ser414=)	DDOST	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 788330	NM_005216.5(DDOST):c.1236C>T (p.Tyr412=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 30245	NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs)	DDOST (I422fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2166946	NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)	DDOST (Y409C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 384565	NM_005216.5(DDOST):c.1221G>A (p.Ser407=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir +1 more	GLikely benign
Select item 2070810	NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)	DDOST (S407L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2143013	NM_005216.5(DDOST):c.1218C>T (p.Pro406=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2266178	NM_005216.5(DDOST):c.1216C>T (p.Pro406Ser)	DDOST (P406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1955756	NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)	DDOST (F404L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 384223	NM_005216.5(DDOST):c.1209C>T (p.Arg403=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir +1 more	GBenign/Likely benign
Select item 1546969	NM_005216.5(DDOST):c.1206G>A (p.Glu402=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1389493	NM_005216.5(DDOST):c.1196C>T (p.Thr399Met)	DDOST (T399M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2638436	NM_005216.5(DDOST):c.1181G>A (p.Arg394Gln)	DDOST (R394Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198382	NM_005216.5(DDOST):c.1177G>A (p.Val393Met)	DDOST (V393M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +1 more	GUncertain significance
Select item 517032	NM_005216.5(DDOST):c.1176C>T (p.Ser392=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir +1 more	GBenign
Select item 2373488	NM_005216.5(DDOST):c.1171G>A (p.Val391Ile)	DDOST (V391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067162	NM_005216.5(DDOST):c.1171-7_1171-5del	DDOST	Microsatellite (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1946267	NM_005216.5(DDOST):c.1171-9C>G	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 420722	NM_005216.5(DDOST):c.1170+16dup	DDOST	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2842633	NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1717499	NM_005216.5(DDOST):c.1151A>G (p.His384Arg)	DDOST (H384R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 166992	NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)	DDOST (T400I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 295076	NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)	DDOST (R379Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2282904	NM_005216.5(DDOST):c.1135C>T (p.Arg379Trp)	DDOST (R379W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1555835	NM_005216.5(DDOST):c.1098C>T (p.Asp366=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1398039	NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn)	DDOST (D366N)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 387986	NM_005216.5(DDOST):c.1077T>C (p.Ser359=)	DDOST	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2057698	NM_005216.5(DDOST):c.1064-2A>C	DDOST	Single nucleotide variant (splice acceptor variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2741559	NM_005216.5(DDOST):c.1064-5C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1243003	NM_005216.5(DDOST):c.1063+34dup	DDOST	Duplication (intron variant)	Congenital disorder of glycosylation type Ir +1 more	GBenign
Select item 2144579	NM_005216.5(DDOST):c.1063+20G>A	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2740913	NM_005216.5(DDOST):c.1063+19C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1445368	NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del)	DDOST (K354del)	Microsatellite (inframe_deletion)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2500316	NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)	DDOST (I343T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2258070	NM_005216.5(DDOST):c.1025G>A (p.Arg342His)	DDOST (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529301	NM_005216.5(DDOST):c.1024C>T (p.Arg342Cys)	DDOST (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271220	NM_005216.5(DDOST):c.1016A>G (p.Glu339Gly)	DDOST (E339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 295082	NM_005216.5(DDOST):c.999C>T (p.Gly333=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir +1 more	GBenign/Likely benign
Select item 948627	NM_005216.5(DDOST):c.955G>A (p.Val319Met)	DDOST (V319M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 515222	NM_005216.5(DDOST):c.948T>C (p.Tyr316=)	DDOST	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 513729	NM_005216.5(DDOST):c.943-7A>C	DDOST	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1294365	NM_005216.5(DDOST):c.943-109G>A	DDOST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294362	NM_005216.5(DDOST):c.943-116A>C	DDOST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221944	NM_005216.5(DDOST):c.942+302T>A	DDOST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244714	NM_005216.5(DDOST):c.942+34del	DDOST	Deletion (intron variant)	not provided	GBenign
Select item 2030771	NM_005216.5(DDOST):c.942+15G>C	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 2154791	NM_005216.5(DDOST):c.942+13dup	DDOST	Duplication (intron variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 1382384	NM_005216.5(DDOST):c.917A>G (p.Asn306Ser)	DDOST (N306S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2638437	NM_005216.5(DDOST):c.915C>A (p.Pro305=)	DDOST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164693	NM_005216.5(DDOST):c.908C>T (p.Ala303Val)	DDOST (A303V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2142767	NM_005216.5(DDOST):c.900C>T (p.Gly300=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 2019684	NM_005216.5(DDOST):c.897G>A (p.Val299=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GUncertain significance
Select item 1579112	NM_005216.5(DDOST):c.894G>C (p.Arg298=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 295113	NM_005216.5(DDOST):c.893G>A (p.Arg298Gln)	DDOST (R315Q +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir +2 more	GBenign
Select item 2130416	NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)	DDOST (S295F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	GUncertain significance

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