80267[geneid] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144788	GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1	C1orf21, C1orf21-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 148400	GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1	C1orf21, C1orf21-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 150833	GRCh38/hg38 1q25.3(chr1:184686232-184933141)x1	EDEM3, LOC129388659 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2621567	NM_025191.4(EDEM3):c.2576C>A (p.Ser859Tyr)	EDEM3 (S875Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599482	NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr)	EDEM3 (D811Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274502	NM_025191.4(EDEM3):c.2339G>A (p.Arg780Gln)	EDEM3 (R780Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087181	NM_025191.4(EDEM3):c.2338C>T (p.Arg780Trp)	EDEM3 (R780W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087180	NM_025191.4(EDEM3):c.2258A>G (p.Asp753Gly)	EDEM3 (D753G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068615	NM_025191.4(EDEM3):c.2236C>T (p.Pro746Ser)	EDEM3 (P746S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type 2v	GBenign
Select item 3274503	NM_025191.4(EDEM3):c.2219G>A (p.Ser740Asn)	EDEM3 (S740N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3344991	NM_025191.4(EDEM3):c.2167A>C (p.Ile723Leu)	EDEM3 (I723L)	Single nucleotide variant (missense variant +1 more)	EDEM3-related disorder	GUncertain significance
Select item 3087179	NM_025191.4(EDEM3):c.2119G>A (p.Ala707Thr)	EDEM3 (A707T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319026	NM_025191.4(EDEM3):c.2072A>G (p.Asn691Ser)	EDEM3 (N691S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2217297	NM_025191.4(EDEM3):c.2053G>A (p.Ala685Thr)	EDEM3 (A685T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210134	NM_025191.4(EDEM3):c.2001dup (p.Ala668fs)	EDEM3 (A668fs)	Duplication (frameshift variant +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 3274505	NM_025191.4(EDEM3):c.1981G>A (p.Val661Ile)	EDEM3 (V661I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639631	NM_025191.4(EDEM3):c.1942C>T (p.Arg648Ter)	EDEM3 (R648*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3274504	NM_025191.4(EDEM3):c.1898T>C (p.Ile633Thr)	EDEM3 (I633T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210133	NM_025191.4(EDEM3):c.1859del (p.Ile620fs)	EDEM3 (I620fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 2365226	NM_025191.4(EDEM3):c.1858A>G (p.Ile620Val)	EDEM3 (I620V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087178	NM_025191.4(EDEM3):c.1853G>T (p.Ser618Ile)	EDEM3 (S618I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639632	NM_025191.4(EDEM3):c.1736G>A (p.Arg579Lys)	EDEM3 (R579K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639633	NM_025191.4(EDEM3):c.1720C>T (p.Pro574Ser)	EDEM3 (P574S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2300752	NM_025191.4(EDEM3):c.1719A>C (p.Lys573Asn)	EDEM3 (K573N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582512	NM_025191.4(EDEM3):c.1692-28A>T	EDEM3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type 2v	GUncertain significance
Select item 2545884	NM_025191.4(EDEM3):c.1679G>A (p.Gly560Asp)	EDEM3 (G560D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545209	NM_025191.4(EDEM3):c.1607C>G (p.Pro536Arg)	EDEM3 (P536R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052812	NM_025191.4(EDEM3):c.1542G>A (p.Ser514=)	EDEM3	Single nucleotide variant (synonymous variant +1 more)	EDEM3-related disorder	GLikely benign
Select item 2282074	NM_025191.4(EDEM3):c.1541C>T (p.Ser514Leu)	EDEM3 (S514L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377512	NM_025191.4(EDEM3):c.1532A>G (p.Asn511Ser)	EDEM3 (N511S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546066	NM_025191.4(EDEM3):c.1517G>T (p.Ser506Ile)	EDEM3 (S506I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398273	NM_025191.4(EDEM3):c.1435G>T (p.Asp479Tyr)	EDEM3 (D479Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210138	NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter)	EDEM3 (Y469*)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 1210139	NM_025191.4(EDEM3):c.1382_1385del (p.Phe461fs)	EDEM3 (F461fs)	Microsatellite (frameshift variant +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 1210135	NM_025191.4(EDEM3):c.1369del (p.Arg457fs)	EDEM3 (R457fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 1210141	NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn)	EDEM3 (D456N)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 3087176	NM_025191.4(EDEM3):c.1362T>A (p.His454Gln)	EDEM3 (H454Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595707	NM_025191.4(EDEM3):c.1352C>G (p.Thr451Ser)	EDEM3 (T451S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087175	NM_025191.4(EDEM3):c.1309G>T (p.Ala437Ser)	EDEM3 (A437S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599481	NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)	EDEM3 (L402V)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 2203998	NM_025191.4(EDEM3):c.1105A>G (p.Ile369Val)	EDEM3 (I369V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322415	NM_025191.4(EDEM3):c.1097G>T (p.Arg366Ile)	EDEM3 (R366I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803729	NM_025191.4(EDEM3):c.1090del (p.Asp364fs)	EDEM3 (D364fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation, type 2v	GLikely pathogenic
Select item 2310839	NM_025191.4(EDEM3):c.948C>G (p.Asn316Lys)	EDEM3 (N316K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210136	NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter)	EDEM3 (R314*)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 3087186	NM_025191.4(EDEM3):c.938A>G (p.Glu313Gly)	EDEM3 (E313G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214612	NM_025191.4(EDEM3):c.866G>A (p.Gly289Glu)	EDEM3 (G289E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210137	NM_025191.4(EDEM3):c.853+1G>T	EDEM3	Single nucleotide variant (splice donor variant)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 3087185	NM_025191.4(EDEM3):c.814G>C (p.Val272Leu)	EDEM3 (V272L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495763	NM_025191.4(EDEM3):c.739A>G (p.Ile247Val)	EDEM3 (I247V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639634	NM_025191.4(EDEM3):c.666A>G (p.Thr222=)	EDEM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2384093	NM_025191.4(EDEM3):c.655G>A (p.Gly219Arg)	EDEM3 (G219R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551328	NM_025191.4(EDEM3):c.631A>T (p.Ile211Phe)	EDEM3 (I211F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639635	NM_025191.4(EDEM3):c.575C>T (p.Pro192Leu)	EDEM3 (P192L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2240754	NM_025191.4(EDEM3):c.568C>G (p.Leu190Val)	EDEM3 (L190V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514625	NM_025191.4(EDEM3):c.531T>A (p.Asp177Glu)	EDEM3 (D177E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330427	NM_025191.4(EDEM3):c.395G>C (p.Arg132Thr)	EDEM3 (R132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087183	NM_025191.4(EDEM3):c.352A>G (p.Asn118Asp)	EDEM3 (N118D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639636	NM_025191.4(EDEM3):c.346-1G>A	EDEM3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2636174	NM_025191.4(EDEM3):c.345+1G>A	EDEM3	Single nucleotide variant (splice donor variant)	EDEM3-related disorder	GUncertain significance
Select item 2582423	NM_025191.4(EDEM3):c.295G>A (p.Ala99Thr)	EDEM3 (A99T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type 2v	GUncertain significance
Select item 2610641	NM_025191.4(EDEM3):c.280G>A (p.Gly94Ser)	EDEM3 (G94S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087182	NM_025191.4(EDEM3):c.268G>C (p.Glu90Gln)	EDEM3 (E90Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1210140	NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly)	EDEM3 (D61G)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type 2v	GPathogenic
Select item 3087177	NM_025191.4(EDEM3):c.181G>A (p.Asp61Asn)	EDEM3 (D61N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639637	NM_025191.4(EDEM3):c.147A>G (p.Lys49=)	EDEM3, LOC129932108	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406950	NM_025191.4(EDEM3):c.139G>A (p.Glu47Lys)	EDEM3, LOC129932108 (E47K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242328	NM_025191.4(EDEM3):c.122C>T (p.Ala41Val)	EDEM3, LOC129932108 (A41V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226752	NM_025191.4(EDEM3):c.50C>G (p.Ala17Gly)	EDEM3 (A17G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235304	NM_025191.4(EDEM3):c.35C>T (p.Pro12Leu)	EDEM3 (P12L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814150	GRCh37/hg19 1q25.3(chr1:184688562-184921793)x3	EDEM3, NIBAN1	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 93