6818[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 144290	GRCh38/hg38 2q13(chr2:109623720-110207160)x1	LIMS3, LIMS3-LOC440895 +13 more	Copy number loss	See cases	GBenign
Select item 223120	Single allele	LIMS3-LOC440895, LINC01123 +15 more	Duplication	Autism spectrum disorder +1 more	GUncertain significance
Select item 59742	GRCh38/hg38 2q13(chr2:109936618-110452159)x1	LIMS3-LOC440895, LIMS4 +13 more	Copy number loss	See cases	GBenign
Select item 144831	GRCh38/hg38 2q13(chr2:109959903-110360538)x3	LIMS3-LOC440895, LIMS4 +12 more	Copy number gain	See cases	GBenign
Select item 152993	GRCh38/hg38 2q13(chr2:109975055-110207160)x1	LINC01123, LOC126806305 +5 more	Copy number loss	See cases	GBenign
Select item 148909	GRCh38/hg38 2q13(chr2:109975055-110576905)x3	LIMS4, LINC01106 +13 more	Copy number gain	See cases	GLikely benign
Select item 149500	GRCh38/hg38 2q13(chr2:109975072-110207198)x3	LINC01123, LOC126806305 +5 more	Copy number gain	See cases	GBenign
Select item 146098	GRCh38/hg38 2q13(chr2:110025459-110207301)x3	LOC126806305, LOC126806306 +4 more	Copy number gain	See cases	GBenign
Select item 144345	GRCh38/hg38 2q13(chr2:110025659-110207160)x3	LOC126806305, LOC126806306 +4 more	Copy number gain	See cases	GBenign
Select item 57545	GRCh38/hg38 2q13(chr2:110025659-110371270)x0	LIMS4, LOC126806305 +10 more	Copy number loss	See cases	GPathogenic
Select item 34538	GRCh38/hg38 2q13(chr2:110025659-110207160)x1	LOC126806305, LOC126806306 +4 more	Copy number loss	See cases	GBenign
Select item 150752	GRCh38/hg38 2q13(chr2:110025674-110207198)x3	LOC126806305, LOC126806306 +4 more	Copy number gain	See cases	GLikely benign
Select item 145443	GRCh38/hg38 2q13(chr2:110025674-110321488)x3	LOC126806305, LOC126806306 +9 more	Copy number gain	See cases	GBenign
Select item 147196	GRCh38/hg38 2q13(chr2:110025681-110576905)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 149321	GRCh38/hg38 2q13(chr2:110049995-110576905)x3	LIMS4, LINC01106 +12 more	Copy number gain	See cases	GLikely benign
Select item 152160	GRCh38/hg38 2q13(chr2:110066680-110225841)x0	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GPathogenic
Select item 152507	GRCh38/hg38 2q13(chr2:110076063-110209066)x3	LOC126806305, LOC126806306 +3 more	Copy number gain	See cases	GBenign
Select item 152506	GRCh38/hg38 2q13(chr2:110076063-110209066)x1	LOC126806305, LOC126806306 +3 more	Copy number loss	See cases	GBenign
Select item 144830	GRCh38/hg38 2q13(chr2:110076063-110257869)x3	LOC126806305, LOC126806306 +6 more	Copy number gain	See cases	GBenign
Select item 59744	GRCh38/hg38 2q13(chr2:110084138-110611314)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 59743	GRCh38/hg38 2q13(chr2:110084138-110212693)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GBenign
Select item 59745	GRCh38/hg38 2q13(chr2:110084194-110212693)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GBenign
Select item 2505162	GRCh38/hg38 2q13(chr2:110091573-110212811)	LOC126806305, LOC126806306 +5 more	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 1676309	GRCh38/hg38 2q13(chr2:110091573-110205023)	LOC126806305, LOC126806306 +2 more	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 453297	Single allele	LOC126806306, LOC126806305 +5 more	Deletion	Senior-loken syndrome 3 +1 more	GPathogenic
Select item 59746	GRCh38/hg38 2q13(chr2:110095383-110211318)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GBenign
Select item 438246	Single allele	LOC126806305, LOC126806306 +5 more	Deletion	Cone dystrophy	GLikely pathogenic
Select item 149342	GRCh38/hg38 2q13(chr2:110104897-110371270)x1	LIMS4, LOC126806305 +8 more	Copy number loss	See cases	GBenign
Select item 145407	GRCh38/hg38 2q13(chr2:110104897-110321488)x1	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GBenign
Select item 144559	GRCh38/hg38 2q13(chr2:110104897-110207198)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GBenign/Likely benign
Select item 144557	GRCh38/hg38 2q13(chr2:110104897-110207198)x3	LOC126806305, LOC126806306 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 161069	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign
Select item 161023	GRCh38/hg38 2q13(chr2:110104900-110611314)x3	LIMS4, LINC01106 +11 more	Copy number gain	See cases	GBenign
Select item 161015	GRCh38/hg38 2q13(chr2:110104900-110207160)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GBenign
Select item 154483	GRCh38/hg38 2q13(chr2:110104900-110207160)x4	LOC126806305, LOC126806306 +2 more	Copy number gain	See cases	GBenign
Select item 151434	GRCh38/hg38 2q13(chr2:110104900-110257869)x1	LOC126806305, LOC126806306 +5 more	Copy number loss	See cases	GLikely benign
Select item 146191	GRCh38/hg38 2q13(chr2:110104900-110207160)x3	LOC126806305, LOC126806306 +2 more	Copy number gain	See cases	GBenign
Select item 146178	GRCh38/hg38 2q13(chr2:110104900-110611314)x1	LIMS4, LINC01106 +11 more	Copy number loss	See cases	GBenign
Select item 146137	GRCh38/hg38 2q13(chr2:110104900-110201550)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 144826	GRCh38/hg38 2q13(chr2:110104900-110209066)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GBenign/Likely benign
Select item 144825	GRCh38/hg38 2q13(chr2:110104900-110209066)x3	LOC126806305, LOC126806306 +2 more	Copy number gain	See cases	GLikely benign
Select item 144426	GRCh38/hg38 2q13(chr2:110104900-110321480)x1	LOC126806305, LOC126806306 +7 more	Copy number loss	See cases	GBenign
Select item 144125	GRCh38/hg38 2q13(chr2:110104900-110207160)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GBenign
Select item 34228	GRCh38/hg38 2q13(chr2:110104900-110201550)x3	LOC126806305, LOC126806306 +2 more	Copy number gain	See cases	GBenign
Select item 32789	GRCh38/hg38 2q13(chr2:110104900-110207160)x0	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GPathogenic
Select item 32161	GRCh38/hg38 2q13(chr2:110104900-110371270)x3	LIMS4, LOC126806305 +8 more	Copy number gain	See cases	GBenign
Select item 3340099	Single allele	LOC126806306, LOC129934555 +4 more	Deletion	Nephronophthisis 1	GPathogenic
Select item 3292735	NM_005434.5(MALL):c.13G>T (p.Asp5Tyr)	MALL (D5Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266493	NM_005434.5(MALL):c.4G>C (p.Ala2Pro)	MALL (A2P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062597	GRCh37/hg19 2q13(chr2:110504318-111365996)x1	LIMS3, LIMS4 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3024614	GRCh37/hg19 2q13(chr2:110814357-111177015)x0	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 3024613	GRCh37/hg19 2q13(chr2:110552043-111091471)x1	LIMS3, MALL +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685861	GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3	CCDC138, EDAR +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2652123	GRCh37/hg19 2q13(chr2:110873265-110970348)x0	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707615	GRCh37/hg19 2q13(chr2:110498141-111365996)x3	LIMS3, LIMS4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1706502	GRCh37/hg19 2q13(chr2:110504318-111365996)x1	LIMS3, LIMS4 +4 more	Copy number loss	Tetralogy of Fallot +1 more	GConflicting classifications of pathogenicity
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1164275	NC_000002.11:g.(?_110849180)_(110962545_?)dup	MALL, NPHP1	Duplication	Nephronophthisis	GBenign
Select item 995854	GRCh37/hg19 2q13(chr2:110862474-110983457)x1	LIMS4, MALL +3 more	Copy number loss	Psychotic disorder	GUncertain significance
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 973560	NC_000002.12:g.110069919_110205214del	MALL, NPHP1	Deletion	Joubert syndrome with renal defect	GPathogenic
Select item 832553	NC_000002.12:g.(?_110091603)_(110161697_?)dup	MALL, NPHP1	Duplication	Nephronophthisis	GUncertain significance
Select item 830720	NC_000002.12:g.(?_110091603)_(110204968_?)del	MALL, NPHP1	Deletion	Nephronophthisis	GPathogenic
Select item 689331	GRCh37/hg19 2q13(chr2:110863827-110982217)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689305	GRCh37/hg19 2q13(chr2:110873834-110975253)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689300	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689244	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689233	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689227	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689185	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689121	GRCh37/hg19 2q13(chr2:110852804-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689116	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689104	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 689037	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688954	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688863	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688818	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688757	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688679	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688532	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688488	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688440	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688437	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688420	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688339	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688273	GRCh37/hg19 2q13(chr2:110871508-110980919)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 688135	GRCh37/hg19 2q13(chr2:110873834-110982217)x1	MALL, NPHP1	Copy number loss	not provided	GPathogenic

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