6622[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 146171	GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1	CCSER1, LOC110121083 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 14011	NC_000004.12:g.(?_89724098)_(89927969_89934809)dup	LOC129389225, MMRN1 +2 more	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 350057	NM_000345.4(SNCA):c.*2501C>A	SNCA	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904097	NM_000345.4(SNCA):c.*2396G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350058	NM_000345.4(SNCA):c.*2330C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904876	NM_000345.4(SNCA):c.*2320A>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 350059	NM_000345.4(SNCA):c.*2291C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 350060	NM_000345.4(SNCA):c.*2277A>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 350061	NM_000345.4(SNCA):c.*2269C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904877	NM_000345.4(SNCA):c.*2230G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 350062	NM_000345.4(SNCA):c.*2227C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 350063	NM_000345.4(SNCA):c.*2108A>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 904878	NM_000345.4(SNCA):c.*2106G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 350064	NM_000345.4(SNCA):c.*2105G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 906477	NM_000345.4(SNCA):c.*2047G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350065	NM_000345.4(SNCA):c.*2037T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 906478	NM_000345.4(SNCA):c.*1983A>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350066	NM_000345.4(SNCA):c.*1896C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 906479	NM_000345.4(SNCA):c.*1893T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 906480	NM_000345.4(SNCA):c.*1716A>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350067	NM_000345.4(SNCA):c.*1702G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 907474	NM_000345.4(SNCA):c.*1678G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350068	NM_000345.4(SNCA):c.*1677C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 907475	NM_000345.4(SNCA):c.*1518T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350069	NM_000345.4(SNCA):c.*1325A>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350070	NM_000345.4(SNCA):c.1307_1311dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 907476	NM_000345.4(SNCA):c.*1311C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350075	NM_000345.4(SNCA):c.1306_1310dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350074	NM_000345.4(SNCA):c.1308_1310dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350073	NM_000345.4(SNCA):c.1310_1311insTTTTT	SNCA	Insertion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350072	NM_000345.4(SNCA):c.1310_1311insTTT	SNCA	Insertion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350071	NM_000345.4(SNCA):c.*1311del	SNCA	Deletion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350079	NM_000345.4(SNCA):c.1308_1309dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350078	NM_000345.4(SNCA):c.1305_1309dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350077	NM_000345.4(SNCA):c.1306_1309dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350076	NM_000345.4(SNCA):c.*1310A>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350082	NM_000345.4(SNCA):c.1292_1296dup	SNCA	Duplication (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 907477	NM_000345.4(SNCA):c.*1292C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350083	NM_000345.4(SNCA):c.1291_1292insTTTCT	SNCA	Insertion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350081	NM_000345.4(SNCA):c.1291_1292insTTTTT	SNCA	Insertion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350080	NM_000345.4(SNCA):c.1291_1292insTTT	SNCA	Insertion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350084	NM_000345.4(SNCA):c.*1289T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 904155	NM_000345.4(SNCA):c.*1287G>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350085	NM_000345.4(SNCA):c.*1287G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 904156	NM_000345.4(SNCA):c.*1285T>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904157	NM_000345.4(SNCA):c.*1280T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 2654945	NM_000345.4(SNCA):c.*1260CT[10]	SNCA	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 350086	NM_000345.4(SNCA):c.*1260CT[7]	SNCA	Microsatellite (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 904158	NM_000345.4(SNCA):c.*1276C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350087	NM_000345.4(SNCA):c.*1245del	SNCA	Deletion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350088	NM_000345.4(SNCA):c.*1078A>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350089	NM_000345.4(SNCA):c.*1077del	SNCA	Deletion (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350090	NM_000345.4(SNCA):c.*1047T>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 350091	NM_000345.4(SNCA):c.*1033T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350092	NM_000345.4(SNCA):c.*1002T>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 904936	NM_000345.4(SNCA):c.*923A>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 904937	NM_000345.4(SNCA):c.*894G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 350093	NM_000345.4(SNCA):c.*893C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 350094	NM_000345.4(SNCA):c.*860T>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 904938	NM_000345.4(SNCA):c.*852G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350095	NM_000345.4(SNCA):c.*630T>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350096	NM_000345.4(SNCA):c.*593C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 350097	NM_000345.4(SNCA):c.*575ATTTT[1]	SNCA	Microsatellite (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 906529	NM_000345.4(SNCA):c.*504T>C	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350098	NM_000345.4(SNCA):c.*501C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +2 more	GBenign
Select item 350099	NM_000345.4(SNCA):c.*465A>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 1020728	NM_000345.4(SNCA):c.*464C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 639372	NC_000004.11:g.(?_90647315)_(90756828_?)dup	SNCA	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 531846	NC_000004.11:g.(?_90647315)_(90756838_?)dup	SNCA	Duplication	Lewy body dementia +1 more	GPathogenic
Select item 350100	NM_000345.4(SNCA):c.*277G>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 906530	NM_000345.4(SNCA):c.*249G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 350101	NM_000345.4(SNCA):c.*211G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350102	NM_000345.4(SNCA):c.*173G>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GBenign
Select item 350103	NM_000345.4(SNCA):c.*139T>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 906531	NM_000345.4(SNCA):c.*116C>T	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GLikely benign
Select item 907543	NM_000345.4(SNCA):c.*114C>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 907544	NM_000345.4(SNCA):c.*112A>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 907545	NM_000345.4(SNCA):c.*77C>A	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant +3 more	GLikely benign
Select item 907546	NM_000345.4(SNCA):c.*56C>G	SNCA	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson Disease, Dominant	GUncertain significance
Select item 350104	NM_000345.4(SNCA):c.408C>T (p.Tyr136=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Parkinson Disease, Dominant +4 more	GBenign/Likely benign
Select item 2940508	NM_000345.4(SNCA):c.401A>G (p.Gln134Arg)	SNCA (Q106R +2 more)	Single nucleotide variant (missense variant +1 more)	Lewy body dementia +1 more	GUncertain significance
Select item 2942456	NM_000345.4(SNCA):c.396G>T (p.Gly132=)	SNCA	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 1049281	NM_000345.4(SNCA):c.391G>C (p.Glu131Gln)	SNCA (E103Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1472092	NM_000345.4(SNCA):c.391-7A>G	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GUncertain significance
Select item 2663805	NM_000345.4(SNCA):c.391-14T>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1	GUncertain significance
Select item 1657000	NM_000345.4(SNCA):c.391-16A>G	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 4 +2 more	GLikely benign
Select item 1252508	NM_000345.4(SNCA):c.391-54A>G	SNCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200375	NM_000345.4(SNCA):c.391-211ACT[4]	SNCA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1196020	NM_000345.4(SNCA):c.390+36T>C	SNCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553611	NM_000345.4(SNCA):c.390+11A>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 2947523	NM_000345.4(SNCA):c.390+7G>C	SNCA	Single nucleotide variant (intron variant)	Autosomal dominant Parkinson disease 1 +1 more	GLikely benign
Select item 907547	NM_000345.4(SNCA):c.382C>A (p.Pro128Thr)	SNCA (P80T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant Parkinson disease 1 +2 more	GUncertain significance

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