ENPP6[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 143

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	AADAT, ACSL1 +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	LOC129993473, LOC129993474 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC129993510, LOC129993511 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	PRIMPOL, RWDD4 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	ACSL1, ADAM29 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 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 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	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 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 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
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 2604607	NM_153343.4(ENPP6):c.1283A>T (p.His428Leu)	ENPP6 (H428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410393	NM_153343.4(ENPP6):c.1249C>T (p.Arg417Cys)	ENPP6 (R417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089023	NM_153343.4(ENPP6):c.1199C>T (p.Pro400Leu)	ENPP6 (P400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547736	NM_153343.4(ENPP6):c.1177T>C (p.Cys393Arg)	ENPP6 (C393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089022	NM_153343.4(ENPP6):c.1162G>A (p.Val388Ile)	ENPP6 (V388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346684	NM_153343.4(ENPP6):c.1138G>C (p.Ala380Pro)	ENPP6 (A380P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345548	NM_153343.4(ENPP6):c.1091G>A (p.Arg364Gln)	ENPP6 (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214988	NM_153343.4(ENPP6):c.1075G>A (p.Glu359Lys)	ENPP6 (E359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089029	NM_153343.4(ENPP6):c.935A>G (p.Lys312Arg)	ENPP6 (K312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089028	NM_153343.4(ENPP6):c.907G>C (p.Ala303Pro)	ENPP6 (A303P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463196	NM_153343.4(ENPP6):c.898G>C (p.Glu300Gln)	ENPP6 (E300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089027	NM_153343.4(ENPP6):c.866A>G (p.Lys289Arg)	ENPP6 (K289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620698	NM_153343.4(ENPP6):c.838C>G (p.Pro280Ala)	ENPP6 (P280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560197	NM_153343.4(ENPP6):c.735C>G (p.Asp245Glu)	ENPP6 (D245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251670	NM_153343.4(ENPP6):c.688C>A (p.Gln230Lys)	ENPP6 (Q230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323354	NM_153343.4(ENPP6):c.644C>T (p.Thr215Ile)	ENPP6 (T215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252109	NM_153343.4(ENPP6):c.634G>A (p.Ala212Thr)	ENPP6 (A212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521231	NM_153343.4(ENPP6):c.572G>A (p.Arg191His)	ENPP6 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224431	NM_153343.4(ENPP6):c.541C>T (p.Arg181Trp)	ENPP6 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089026	NM_153343.4(ENPP6):c.515A>T (p.Asp172Val)	ENPP6 (D172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270448	NM_153343.4(ENPP6):c.452C>A (p.Pro151His)	ENPP6 (P151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789730	NM_153343.4(ENPP6):c.421+9G>A	ENPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2342449	NM_153343.4(ENPP6):c.397A>C (p.Lys133Gln)	ENPP6 (K133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089025	NM_153343.4(ENPP6):c.374T>A (p.Val125Asp)	ENPP6 (V125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224497	NM_153343.4(ENPP6):c.333C>A (p.Ser111Arg)	ENPP6 (S111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529084	NM_153343.4(ENPP6):c.320T>C (p.Val107Ala)	ENPP6 (V107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655207	NM_153343.4(ENPP6):c.318C>T (p.Gly106=)	ENPP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325516	NM_153343.4(ENPP6):c.299A>C (p.Asn100Thr)	ENPP6 (N100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221209	NM_153343.4(ENPP6):c.277T>C (p.Tyr93His)	ENPP6 (Y93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231019	NM_153343.4(ENPP6):c.230C>A (p.Thr77Asn)	ENPP6 (T77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783386	NM_153343.4(ENPP6):c.213G>A (p.Ser71=)	ENPP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319795	NM_153343.4(ENPP6):c.179T>G (p.Val60Gly)	ENPP6 (V60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089024	NM_153343.4(ENPP6):c.146G>C (p.Gly49Ala)	ENPP6 (G49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302624	NM_153343.4(ENPP6):c.123T>G (p.Asp41Glu)	ENPP6 (D41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236786	NM_153343.4(ENPP6):c.104G>T (p.Arg35Leu)	ENPP6 (R35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272129	NM_153343.4(ENPP6):c.71G>A (p.Arg24Gln)	ENPP6 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530850	NM_153343.4(ENPP6):c.44G>A (p.Gly15Asp)	ENPP6 (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	SPATA18, SPATA4 +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 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

<< First< Prev

Page of 2