ClinVar for Gene (Select 4907) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357613	NM_002526.4(NT5E):c.1578C>T (p.Asn526=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 3301235	NM_002526.4(NT5E):c.1507A>T (p.Asn503Tyr)	NT5E (N453Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301234	NM_002526.4(NT5E):c.406A>G (p.Lys136Glu)	NT5E (K136E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301233	NM_002526.4(NT5E):c.1403G>T (p.Arg468Ile)	NT5E (R468I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301232	NM_002526.4(NT5E):c.830T>C (p.Val277Ala)	NT5E (V277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301231	NM_002526.4(NT5E):c.326G>T (p.Arg109Leu)	NT5E (R109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301229	NM_002526.4(NT5E):c.1607A>G (p.Lys536Arg)	NT5E (K486R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202534	NM_002526.4(NT5E):c.745T>C (p.Tyr249His)	NT5E (Y249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202532	NM_002526.4(NT5E):c.313A>G (p.Met105Val)	NT5E (M105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202531	NM_002526.4(NT5E):c.19C>G (p.Arg7Gly)	NT5E (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202530	NM_002526.4(NT5E):c.1465A>T (p.Met489Leu)	NT5E (M439L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202529	NM_002526.4(NT5E):c.1246C>T (p.Pro416Ser)	NT5E (P416S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202528	NM_002526.4(NT5E):c.1192A>C (p.Ile398Leu)	NT5E (I398L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202527	NM_002526.4(NT5E):c.1123C>A (p.His375Asn)	NT5E (H375N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062924	GRCh37/hg19 6q14.3(chr6:85747869-86181066)x3	NT5E	Copy number gain	not specified	GUncertain significance
Select item 3054378	NM_002526.4(NT5E):c.1503G>A (p.Leu501=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 3049545	NM_002526.4(NT5E):c.1446C>T (p.Pro482=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 3048888	NM_002526.4(NT5E):c.18G>C (p.Ala6=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 3047447	NM_002526.4(NT5E):c.840C>A (p.Ala280=)	NT5E	Single nucleotide variant (synonymous variant)	NT5E-related disorder	GLikely benign
Select item 3045532	NM_002526.4(NT5E):c.1278A>G (p.Leu426=)	NT5E	Single nucleotide variant (synonymous variant +1 more)	NT5E-related disorder	GLikely benign
Select item 2689628	NM_002526.4(NT5E):c.965C>T (p.Ala322Val)	NT5E (A322V)	Single nucleotide variant (missense variant)	Hereditary arterial and articular multiple calcification syndrome	GUncertain significance
Select item 2633543	NM_002526.4(NT5E):c.1428C>A (p.Cys476Ter)	NT5E (C426* +1 more)	Single nucleotide variant (nonsense)	NT5E-related disorder	GLikely pathogenic
Select item 2629968	NM_002526.4(NT5E):c.1264G>T (p.Asp422Tyr)	NT5E (D422Y)	Single nucleotide variant (missense variant +1 more)	NT5E-related disorder	GUncertain significance
Select item 2610267	NM_002526.4(NT5E):c.100A>G (p.Thr34Ala)	NT5E (T34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555347	NM_002526.4(NT5E):c.778G>C (p.Ala260Pro)	NT5E (A260P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543281	NM_002526.4(NT5E):c.1253G>A (p.Gly418Glu)	NT5E (G418E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539830	NM_002526.4(NT5E):c.569A>C (p.Asn190Thr)	NT5E (N190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533865	NM_002526.4(NT5E):c.1661G>A (p.Cys554Tyr)	NT5E (C504Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521273	NM_002526.4(NT5E):c.1439G>T (p.Arg480Leu)	NT5E (R480L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521223	NM_002526.4(NT5E):c.451G>C (p.Ala151Pro)	NT5E (A151P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 2489904	NM_002526.4(NT5E):c.823G>C (p.Val275Leu)	NT5E (V275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487415	NM_002526.4(NT5E):c.207G>T (p.Gln69His)	NT5E (Q69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427237	NC_000006.11:g.(?_84765038)_(86267798_?)del	CEP162, MRAP2 +3 more	Deletion	not provided	GUncertain significance
Select item 2405391	NM_002526.4(NT5E):c.1220C>T (p.Thr407Ile)	NT5E (T407I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400574	NM_002526.4(NT5E):c.1186T>C (p.Ser396Pro)	NT5E (S396P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376208	NM_002526.4(NT5E):c.938G>A (p.Ser313Asn)	NT5E (S313N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374809	NM_002526.4(NT5E):c.1309C>G (p.His437Asp)	NT5E (H437D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366200	NM_002526.4(NT5E):c.35T>G (p.Leu12Arg)	NT5E (L12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344654	NM_002526.4(NT5E):c.1388G>A (p.Arg463Gln)	NT5E (R413Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321399	NM_002526.4(NT5E):c.172A>G (p.Met58Val)	NT5E (M58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2302888	NM_002526.4(NT5E):c.10C>G (p.Arg4Gly)	NT5E (R4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299988	NM_002526.4(NT5E):c.1345T>C (p.Phe449Leu)	NT5E (F449L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289773	NM_002526.4(NT5E):c.463T>A (p.Ser155Thr)	NT5E (S155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276622	NM_002526.4(NT5E):c.47T>G (p.Leu16Arg)	NT5E (L16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263387	NM_002526.4(NT5E):c.838G>T (p.Ala280Ser)	NT5E (A280S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262408	NM_002526.4(NT5E):c.1208A>G (p.Asn403Ser)	NT5E (N403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255910	NM_002526.4(NT5E):c.28G>C (p.Ala10Pro)	NT5E (A10P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242156	NM_002526.4(NT5E):c.31A>G (p.Thr11Ala)	NT5E (T11A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233721	NM_002526.4(NT5E):c.979T>C (p.Trp327Arg)	NT5E (W327R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808789	GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3	AKIRIN2, C6orf163 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 1339940	NM_002526.4(NT5E):c.1387C>T (p.Arg463Ter)	NT5E (R413* +1 more)	Single nucleotide variant (nonsense)	NT5E-related disorder	Gnot provided
Select item 1339939	NM_002526.4(NT5E):c.223G>T (p.Glu75Ter)	NT5E (E75*)	Single nucleotide variant (nonsense)	NT5E-related disorder	Gnot provided
Select item 1327661	NM_002526.4(NT5E):c.1271T>G (p.Val424Gly)	NT5E (V424G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1175159	NM_002526.4(NT5E):c.1126A>G (p.Thr376Ala)	NT5E (T376A)	Single nucleotide variant (missense variant)	Hereditary arterial and articular multiple calcification syndrome	GBenign
Select item 1174653	NM_002526.4(NT5E):c.1210+12G>C	NT5E	Single nucleotide variant (intron variant)	Hereditary arterial and articular multiple calcification syndrome	GBenign
Select item 973604	GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4	NT5E, SNHG5 +4 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 791567	NM_002526.4(NT5E):c.1221C>G (p.Thr407=)	NT5E	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783471	NM_002526.4(NT5E):c.342A>G (p.Ala114=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782948	NM_002526.4(NT5E):c.832G>A (p.Val278Ile)	NT5E (V278I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 774184	NM_002526.4(NT5E):c.897C>T (p.Asn299=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760697	NM_002526.4(NT5E):c.457C>G (p.Gln153Glu)	NT5E (Q153E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 754926	NM_002526.4(NT5E):c.444G>A (p.Gly148=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754702	NM_002526.4(NT5E):c.924T>C (p.Ile308=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748330	NM_002526.4(NT5E):c.966A>G (p.Ala322=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748145	NM_002526.4(NT5E):c.1368T>C (p.His456=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745956	NM_002526.4(NT5E):c.42C>T (p.Leu14=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738423	NM_002526.4(NT5E):c.1207A>C (p.Asn403His)	NT5E (N403H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735452	NM_002526.4(NT5E):c.1539T>C (p.Asp513=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729150	NM_002526.4(NT5E):c.1588A>G (p.Thr530Ala)	NT5E (T480A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727283	NM_002526.4(NT5E):c.76G>T (p.Ala26Ser)	NT5E (A26S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717329	NM_002526.4(NT5E):c.528C>T (p.Tyr176=)	NT5E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688726	GRCh37/hg19 6q14.3(chr6:86155642-86252892)x1	NT5E, SNX14	Copy number loss	not provided	GUncertain significance
Select item 563202	GRCh37/hg19 6q14.3(chr6:86066198-86195452)x1	NT5E	Copy number loss	not provided	GLikely benign
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441565	GRCh37/hg19 6q14.3(chr6:85770403-87222520)x3	NT5E, SNHG5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	C6orf163, CGA +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 29689	NM_002526.4(NT5E):c.1608dup (p.Val537fs)	NT5E (V537fs +1 more)	Duplication (frameshift variant)	NT5E-related disorder +1 more	GLikely pathogenic
Select item 29688	NM_002526.4(NT5E):c.1073G>A (p.Cys358Tyr)	NT5E (C358Y)	Single nucleotide variant (missense variant)	Hereditary arterial and articular multiple calcification syndrome	GPathogenic
Select item 29687	NM_002526.4(NT5E):c.662C>A (p.Ser221Ter)	NT5E (S221*)	Single nucleotide variant (nonsense)	Hereditary arterial and articular multiple calcification syndrome	GPathogenic

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Links from Gene

Items: 93