ClinVar for Gene (Select 57562) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142515	NM_020802.4(CEP126):c.703C>A (p.Gln235Lys)	CEP126 (Q36K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142514	NM_020802.4(CEP126):c.3092C>T (p.Pro1031Leu)	CEP126 (P1031L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142513	NM_020802.4(CEP126):c.3082G>A (p.Ala1028Thr)	CEP126 (A829T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142512	NM_020802.4(CEP126):c.2957A>G (p.Asn986Ser)	CEP126 (N787S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142511	NM_020802.4(CEP126):c.2802G>C (p.Trp934Cys)	CEP126, LOC126861313 (W735C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142510	NM_020802.4(CEP126):c.2756C>T (p.Pro919Leu)	CEP126, LOC126861313 (P720L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142507	NM_020802.4(CEP126):c.2591C>G (p.Ala864Gly)	CEP126 (A665G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142506	NM_020802.4(CEP126):c.2540A>G (p.Glu847Gly)	CEP126 (E847G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142505	NM_020802.4(CEP126):c.2255G>A (p.Gly752Asp)	CEP126 (G553D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142503	NM_020802.4(CEP126):c.215G>A (p.Arg72His)	CEP126 (R72H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3142502	NM_020802.4(CEP126):c.2059A>G (p.Lys687Glu)	CEP126 (K687E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142501	NM_020802.4(CEP126):c.1907C>T (p.Thr636Ile)	CEP126 (T437I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142500	NM_020802.4(CEP126):c.1634C>T (p.Ser545Phe)	CEP126 (S346F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142499	NM_020802.4(CEP126):c.1546C>T (p.Pro516Ser)	CEP126 (P317S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142498	NM_020802.4(CEP126):c.1514T>G (p.Ile505Arg)	CEP126 (I306R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142497	NM_020802.4(CEP126):c.1356T>G (p.Ile452Met)	CEP126 (I253M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142496	NM_020802.4(CEP126):c.1229C>G (p.Thr410Ser)	CEP126 (T410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142495	NM_020802.4(CEP126):c.115C>G (p.Pro39Ala)	ANGPTL5, CEP126 (P39A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2642314	NM_020802.4(CEP126):c.1501_1503del (p.Lys501del)	CEP126 (K302del +1 more)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2623519	NM_020802.4(CEP126):c.1006G>A (p.Val336Ile)	CEP126 (V137I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615123	NM_020802.4(CEP126):c.838A>G (p.Thr280Ala)	CEP126 (T81A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609695	NM_020802.4(CEP126):c.1170C>A (p.Ser390Arg)	CEP126 (S191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554236	NM_020802.4(CEP126):c.77C>G (p.Ala26Gly)	ANGPTL5, CEP126 (A26G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539310	NM_020802.4(CEP126):c.832C>T (p.Arg278Trp)	CEP126 (R79W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527784	NM_020802.4(CEP126):c.2209C>G (p.Pro737Ala)	CEP126 (P538A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511332	NM_020802.4(CEP126):c.196A>T (p.Ile66Leu)	CEP126 (I66L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511188	NM_020802.4(CEP126):c.1702G>A (p.Glu568Lys)	CEP126 (E568K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510604	NM_020802.4(CEP126):c.382C>T (p.Arg128Trp)	CEP126 (R128W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509471	NM_020802.4(CEP126):c.587G>A (p.Cys196Tyr)	CEP126 (C196Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487240	NM_020802.4(CEP126):c.1591C>G (p.Pro531Ala)	CEP126 (P531A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484868	NM_020802.4(CEP126):c.1729A>G (p.Ser577Gly)	CEP126 (S378G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483274	NM_020802.4(CEP126):c.2821C>G (p.Leu941Val)	CEP126, LOC126861313 (L742V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475054	NM_020802.4(CEP126):c.2342C>G (p.Pro781Arg)	CEP126 (P582R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467733	NM_020802.4(CEP126):c.383G>A (p.Arg128Gln)	CEP126 (R128Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467586	NM_020802.4(CEP126):c.2086G>A (p.Glu696Lys)	CEP126 (E497K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466770	NM_020802.4(CEP126):c.1819G>A (p.Ala607Thr)	CEP126 (A607T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463724	NM_020802.4(CEP126):c.833G>A (p.Arg278Gln)	CEP126 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462353	NM_020802.4(CEP126):c.2888G>A (p.Arg963Gln)	CEP126 (R764Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460087	NM_020802.4(CEP126):c.2624T>C (p.Leu875Pro)	CEP126 (L676P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458757	NM_020802.4(CEP126):c.667C>G (p.Gln223Glu)	CEP126 (Q24E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456688	NM_020802.4(CEP126):c.2329G>A (p.Ala777Thr)	CEP126 (A578T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454377	NM_020802.4(CEP126):c.1866A>C (p.Glu622Asp)	CEP126 (E423D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2411974	NM_020802.4(CEP126):c.3314A>G (p.Lys1105Arg)	CEP126 (K1105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396166	NM_020802.4(CEP126):c.1069G>C (p.Val357Leu)	CEP126 (V357L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364370	NM_020802.4(CEP126):c.1059G>T (p.Leu353Phe)	CEP126 (L154F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364143	NM_020802.4(CEP126):c.578A>G (p.Lys193Arg)	CEP126 (K193R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2362374	NM_020802.4(CEP126):c.2851A>G (p.Thr951Ala)	CEP126 (T752A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352751	NM_020802.4(CEP126):c.1156A>T (p.Thr386Ser)	CEP126 (T187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344163	NM_020802.4(CEP126):c.877C>T (p.Leu293Phe)	CEP126 (L293F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344162	NM_020802.4(CEP126):c.2708C>T (p.Ala903Val)	CEP126 (A704V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342735	NM_020802.4(CEP126):c.13A>T (p.Arg5Trp)	ANGPTL5, CEP126 (R5W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2326405	NM_020802.4(CEP126):c.59C>T (p.Ser20Leu)	ANGPTL5, CEP126 (S20L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2319070	NM_020802.4(CEP126):c.3257C>A (p.Ser1086Tyr)	CEP126 (S1086Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309839	NM_020802.4(CEP126):c.2507A>G (p.Asn836Ser)	CEP126 (N836S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300333	NM_020802.4(CEP126):c.2662A>G (p.Lys888Glu)	CEP126 (K888E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297750	NM_020802.4(CEP126):c.2825A>G (p.His942Arg)	CEP126, LOC126861313 (H942R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297512	NM_020802.4(CEP126):c.2671C>T (p.His891Tyr)	CEP126 (H692Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289833	NM_020802.4(CEP126):c.2041G>A (p.Val681Ile)	CEP126 (V681I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262246	NM_020802.4(CEP126):c.1021G>C (p.Glu341Gln)	CEP126 (E341Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217241	NM_020802.4(CEP126):c.1382C>T (p.Thr461Met)	CEP126 (T262M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216162	NM_020802.4(CEP126):c.266G>A (p.Arg89Gln)	CEP126 (R89Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 786211	NM_020802.4(CEP126):c.678C>T (p.Leu226=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786210	NM_020802.4(CEP126):c.249-7A>C	CEP126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783645	NM_020802.4(CEP126):c.2128C>T (p.Pro710Ser)	CEP126 (P511S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775093	NM_020802.4(CEP126):c.923A>T (p.His308Leu)	CEP126 (H109L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774477	NM_020802.4(CEP126):c.436C>G (p.Gln146Glu)	CEP126 (Q146E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 773012	NM_020802.4(CEP126):c.3062T>C (p.Met1021Thr)	CEP126 (M822T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768476	NM_020802.4(CEP126):c.1114T>C (p.Ser372Pro)	CEP126 (S173P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734338	NM_020802.4(CEP126):c.723T>C (p.Val241=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725505	NM_020802.4(CEP126):c.2304C>G (p.Gly768=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721299	NM_020802.4(CEP126):c.3309+8T>G	CEP126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708405	NM_020802.4(CEP126):c.532G>A (p.Ala178Thr)	CEP126 (A178T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 253779	GRCh37/hg19 11q22.1(chr11:101450649-102064511)x3	YAP1, CEP126 +3 more	Copy number gain	See cases	GUncertain significance
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 95