55654[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	LOC129934373, LOC129934374 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	LOC129934312, LOC129934313 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	ADRA2B, ANKRD23 +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	LOC129934371, LOC129934372 +121 more	Copy number gain	See cases	GUncertain significance
Select item 241220	NM_017849.3(TMEM127):c.-131-?_*3600del	LOC110121224, LOC129934333 +1 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 897611	NM_017849.4(TMEM127):c.*3584G>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337444	NM_017849.4(TMEM127):c.*3569C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337445	NM_017849.4(TMEM127):c.*3568C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337446	NM_017849.4(TMEM127):c.*3560G>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 897612	NM_017849.4(TMEM127):c.*3396G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 897613	NM_017849.4(TMEM127):c.*3391G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337447	NM_017849.4(TMEM127):c.*3348G>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 897614	NM_017849.4(TMEM127):c.*3271A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337448	NM_017849.4(TMEM127):c.*3209A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337449	NM_017849.4(TMEM127):c.*3200GTT[2]	TMEM127	Microsatellite (3 prime UTR variant)	Pheochromocytoma	GLikely benign
Select item 337450	NM_017849.4(TMEM127):c.*3134C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 898770	NM_017849.4(TMEM127):c.*3049T>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337451	NM_017849.4(TMEM127):c.*3025G>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337452	NM_017849.4(TMEM127):c.*2966C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 898771	NM_017849.4(TMEM127):c.*2911C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337453	NM_017849.4(TMEM127):c.*2888del	TMEM127	Deletion (3 prime UTR variant)	Pheochromocytoma	GLikely benign
Select item 898772	NM_017849.4(TMEM127):c.*2875A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 898773	NM_017849.4(TMEM127):c.*2860A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337454	NM_017849.4(TMEM127):c.*2845T>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 895800	NM_017849.4(TMEM127):c.*2800T>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337455	NM_017849.4(TMEM127):c.*2760A>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337456	NM_017849.4(TMEM127):c.*2719G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337457	NM_017849.4(TMEM127):c.*2717C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 895801	NM_017849.4(TMEM127):c.*2684C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337458	NM_017849.4(TMEM127):c.*2642C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 895802	NM_017849.4(TMEM127):c.*2563G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337459	NM_017849.4(TMEM127):c.*2548T>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 896085	NM_017849.4(TMEM127):c.*2518C>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337460	NM_017849.4(TMEM127):c.*2503C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337461	NM_017849.4(TMEM127):c.*2498C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337462	NM_017849.4(TMEM127):c.*2445G>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 896086	NM_017849.4(TMEM127):c.*2411C>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337463	NM_017849.4(TMEM127):c.*2300G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 896087	NM_017849.4(TMEM127):c.*2299C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337464	NM_017849.4(TMEM127):c.2291_2292del	TMEM127	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337465	NM_017849.4(TMEM127):c.*2270dup	TMEM127	Duplication (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337466	NM_017849.4(TMEM127):c.*2245A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337467	NM_017849.4(TMEM127):c.*2171C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 897674	NM_017849.4(TMEM127):c.*2128C>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337468	NM_017849.4(TMEM127):c.*2121G>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337469	NM_017849.4(TMEM127):c.2101_2103del	TMEM127	Deletion (3 prime UTR variant)	Pheochromocytoma	GLikely benign
Select item 337470	NM_017849.4(TMEM127):c.*2086C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337471	NM_017849.4(TMEM127):c.*2012C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337472	NM_017849.4(TMEM127):c.*1958A>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337473	NM_017849.4(TMEM127):c.1883_1886dup	TMEM127	Duplication (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 897675	NM_017849.4(TMEM127):c.*1879G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337474	NM_017849.4(TMEM127):c.*1849T>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 898839	NM_017849.4(TMEM127):c.*1822T>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337476	NM_017849.4(TMEM127):c.*1819C>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337475	NM_017849.4(TMEM127):c.*1819C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337477	NM_017849.4(TMEM127):c.*1784C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337478	NM_017849.4(TMEM127):c.*1772G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337479	NM_017849.4(TMEM127):c.*1723C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337480	NM_017849.4(TMEM127):c.*1638G>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337481	NM_017849.4(TMEM127):c.*1620C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 895877	NM_017849.4(TMEM127):c.*1505A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337482	NM_017849.4(TMEM127):c.*1406G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337483	NM_017849.4(TMEM127):c.*1306C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337484	NM_017849.4(TMEM127):c.*1301T>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 895878	NM_017849.4(TMEM127):c.*1257C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337485	NM_017849.4(TMEM127):c.*1252C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337486	NM_017849.4(TMEM127):c.*1233C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 337487	NM_017849.4(TMEM127):c.*1197T>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337488	NM_017849.4(TMEM127):c.*1178A>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337489	NM_017849.4(TMEM127):c.*1163C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 896151	NM_017849.4(TMEM127):c.*980G>C	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337490	NM_017849.4(TMEM127):c.*980G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337491	NM_017849.4(TMEM127):c.*883C>G	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 896152	NM_017849.4(TMEM127):c.*866C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337492	NM_017849.4(TMEM127):c.*760dup	TMEM127	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337493	NM_017849.4(TMEM127):c.*760del	TMEM127	Deletion (3 prime UTR variant)	Pheochromocytoma	GLikely benign
Select item 337494	NM_017849.4(TMEM127):c.*674dup	TMEM127	Duplication (3 prime UTR variant)	Pheochromocytoma	GLikely benign
Select item 337495	NM_017849.4(TMEM127):c.*662G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 897751	NM_017849.4(TMEM127):c.*612C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 2651141	NM_017849.4(TMEM127):c.*547G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 337496	NM_017849.4(TMEM127):c.*502C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign
Select item 897752	NM_017849.4(TMEM127):c.*340G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GUncertain significance
Select item 337497	NM_017849.4(TMEM127):c.*338G>A	TMEM127	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma	GBenign

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