29264[HGNC] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	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 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	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	AASDHPPT, ABCG4 +1199 more	Copy number gain	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 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 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 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 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 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 786210	NM_020802.4(CEP126):c.249-7A>C	CEP126	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 786211	NM_020802.4(CEP126):c.678C>T (p.Leu226=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 734338	NM_020802.4(CEP126):c.723T>C (p.Val241=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 775093	NM_020802.4(CEP126):c.923A>T (p.His308Leu)	CEP126 (H109L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 768476	NM_020802.4(CEP126):c.1114T>C (p.Ser372Pro)	CEP126 (S173P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 2642314	NM_020802.4(CEP126):c.1501_1503del (p.Lys501del)	CEP126 (K302del +1 more)	Deletion (inframe_deletion)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 783645	NM_020802.4(CEP126):c.2128C>T (p.Pro710Ser)	CEP126 (P511S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 725505	NM_020802.4(CEP126):c.2304C>G (p.Gly768=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3265988	NM_020802.4(CEP126):c.2476C>T (p.Pro826Ser)	CEP126 (P826S +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 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 3265987	NM_020802.4(CEP126):c.2569A>G (p.Ser857Gly)	CEP126 (S857G +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 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 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 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 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 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 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 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 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 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 3265989	NM_020802.4(CEP126):c.2861G>T (p.Arg954Ile)	CEP126 (R755I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 773012	NM_020802.4(CEP126):c.3062T>C (p.Met1021Thr)	CEP126 (M822T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 721299	NM_020802.4(CEP126):c.3309+8T>G	CEP126	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	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	MAML2, MAP3K11 +955 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	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +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

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Items: 98