ClinVar for Gene (Select 133121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062801	GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	ACSL1, CASP3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2655207	NM_153343.4(ENPP6):c.318C>T (p.Gly106=)	ENPP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620698	NM_153343.4(ENPP6):c.838C>G (p.Pro280Ala)	ENPP6 (P280A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604607	NM_153343.4(ENPP6):c.1283A>T (p.His428Leu)	ENPP6 (H428L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560197	NM_153343.4(ENPP6):c.735C>G (p.Asp245Glu)	ENPP6 (D245E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547736	NM_153343.4(ENPP6):c.1177T>C (p.Cys393Arg)	ENPP6 (C393R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530850	NM_153343.4(ENPP6):c.44G>A (p.Gly15Asp)	ENPP6 (G15D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529084	NM_153343.4(ENPP6):c.320T>C (p.Val107Ala)	ENPP6 (V107A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521231	NM_153343.4(ENPP6):c.572G>A (p.Arg191His)	ENPP6 (R191H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463196	NM_153343.4(ENPP6):c.898G>C (p.Glu300Gln)	ENPP6 (E300Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410393	NM_153343.4(ENPP6):c.1249C>T (p.Arg417Cys)	ENPP6 (R417C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346684	NM_153343.4(ENPP6):c.1138G>C (p.Ala380Pro)	ENPP6 (A380P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345548	NM_153343.4(ENPP6):c.1091G>A (p.Arg364Gln)	ENPP6 (R364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342449	NM_153343.4(ENPP6):c.397A>C (p.Lys133Gln)	ENPP6 (K133Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325516	NM_153343.4(ENPP6):c.299A>C (p.Asn100Thr)	ENPP6 (N100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323354	NM_153343.4(ENPP6):c.644C>T (p.Thr215Ile)	ENPP6 (T215I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319795	NM_153343.4(ENPP6):c.179T>G (p.Val60Gly)	ENPP6 (V60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302624	NM_153343.4(ENPP6):c.123T>G (p.Asp41Glu)	ENPP6 (D41E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272129	NM_153343.4(ENPP6):c.71G>A (p.Arg24Gln)	ENPP6 (R24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270448	NM_153343.4(ENPP6):c.452C>A (p.Pro151His)	ENPP6 (P151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252109	NM_153343.4(ENPP6):c.634G>A (p.Ala212Thr)	ENPP6 (A212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251670	NM_153343.4(ENPP6):c.688C>A (p.Gln230Lys)	ENPP6 (Q230K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236786	NM_153343.4(ENPP6):c.104G>T (p.Arg35Leu)	ENPP6 (R35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231019	NM_153343.4(ENPP6):c.230C>A (p.Thr77Asn)	ENPP6 (T77N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224497	NM_153343.4(ENPP6):c.333C>A (p.Ser111Arg)	ENPP6 (S111R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224431	NM_153343.4(ENPP6):c.541C>T (p.Arg181Trp)	ENPP6 (R181W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221209	NM_153343.4(ENPP6):c.277T>C (p.Tyr93His)	ENPP6 (Y93H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214988	NM_153343.4(ENPP6):c.1075G>A (p.Glu359Lys)	ENPP6 (E359K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527142	GRCh37/hg19 4q35.1(chr4:184577778-185180007)	ENPP6, RWDD4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340372	GRCh37/hg19 4q35.1(chr4:185004407-185125470)x1	ENPP6	Copy number loss	not provided	GUncertain significance
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	ACSL1, ANKRD37 +36 more	Copy number loss	Overgrowth +1 more	GLikely pathogenic
Select item 979492	GRCh37/hg19 4q35.1(chr4:185011383-185125470)x1	ENPP6	Copy number loss	not provided	GUncertain significance
Select item 814638	GRCh37/hg19 4q35.1(chr4:184695117-185817439)x3	ENPP6, ACSL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 789730	NM_153343.4(ENPP6):c.421+9G>A	ENPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783386	NM_153343.4(ENPP6):c.213G>A (p.Ser71=)	ENPP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AGA, ANKRD37 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 684987	GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	CDKN2AIP, CLDN22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 684986	GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	CDKN2AIP, CLDN22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	ACSL1, ADAM29 +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	ACSL1, ADAM29 +54 more	Copy number loss	not provided	GPathogenic
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ACSL1, AGA +43 more	Deletion	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	CENPU, ACSL1 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441943	GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	ACSL1, ANKRD37 +16 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	FSTL5, GALNT7 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 394092	GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	ACSL1, ANKRD37 +23 more	Copy number gain	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	AADAT, ACSL1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LINC02500, LINC02504 +383 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	FAM149A, FAT1 +372 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	ACSL1, ANKRD37 +274 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	LINC02363, LINC02365 +148 more	Copy number loss	See cases	GUncertain significance
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993505, LOC129993506 +455 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic

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