MPEG1[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2301895	NM_001039396.2(MPEG1):c.2110G>A (p.Gly704Arg)	MPEG1 (G704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223158	NM_001039396.2(MPEG1):c.2038C>T (p.Arg680Trp)	MPEG1 (R680W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279620	NM_001039396.2(MPEG1):c.1985T>G (p.Val662Gly)	MPEG1 (V662G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491822	NM_001039396.2(MPEG1):c.1919G>C (p.Arg640Thr)	MPEG1 (R640T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201678	NM_001039396.2(MPEG1):c.1911G>T (p.Glu637Asp)	MPEG1 (E637D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279765	NM_001039396.2(MPEG1):c.1904C>T (p.Pro635Leu)	MPEG1 (P635L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431677	NM_001039396.2(MPEG1):c.1865T>C (p.Ile622Thr)	MPEG1 (I622T)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 2300706	NM_001039396.2(MPEG1):c.1838C>T (p.Thr613Ile)	MPEG1 (T613I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245911	NM_001039396.2(MPEG1):c.1796C>A (p.Pro599Gln)	MPEG1 (P599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216950	NM_001039396.2(MPEG1):c.1792C>T (p.Arg598Trp)	MPEG1 (R598W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392624	NM_001039396.2(MPEG1):c.1769C>A (p.Pro590His)	MPEG1 (P590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201663	NM_001039396.2(MPEG1):c.1732G>A (p.Val578Ile)	MPEG1 (V578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276896	NM_001039396.2(MPEG1):c.1693C>T (p.Pro565Ser)	MPEG1 (P565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201660	NM_001039396.2(MPEG1):c.1655C>A (p.Pro552Gln)	MPEG1 (P552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483779	NM_001039396.2(MPEG1):c.1613A>G (p.Asn538Ser)	MPEG1 (N538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314465	NM_001039396.2(MPEG1):c.1594T>C (p.Phe532Leu)	MPEG1 (F532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689441	NM_001039396.2(MPEG1):c.1574C>T (p.Ala525Val)	MPEG1 (A525V)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 734337	NM_001039396.2(MPEG1):c.1558T>C (p.Leu520=)	MPEG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201658	NM_001039396.2(MPEG1):c.1547A>T (p.Gln516Leu)	MPEG1 (Q516L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295672	NM_001039396.2(MPEG1):c.1531A>C (p.Lys511Gln)	MPEG1 (K511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619541	NM_001039396.2(MPEG1):c.1474A>G (p.Thr492Ala)	MPEG1 (T492A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542879	NM_001039396.2(MPEG1):c.1464A>G (p.Ile488Met)	MPEG1 (I488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284485	NM_001039396.2(MPEG1):c.1460G>A (p.Ser487Asn)	MPEG1 (S487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716949	NM_001039396.2(MPEG1):c.1401C>T (p.Ala467=)	MPEG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491796	NM_001039396.2(MPEG1):c.1373C>G (p.Ala458Gly)	MPEG1 (A458G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342863	NM_001039396.2(MPEG1):c.1342G>A (p.Val448Met)	MPEG1 (V448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641809	NM_001039396.2(MPEG1):c.1339A>T (p.Thr447Ser)	MPEG1 (T447S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3254819	NM_001039396.2(MPEG1):c.1295_1296del (p.His432fs)	MPEG1 (H432fs)	Deletion (frameshift variant)	Immunodeficiency 77	GUncertain significance
Select item 978045	NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter)	MPEG1 (Y430*)	Single nucleotide variant (nonsense)	MPEG1-related immunodeficiency	GUncertain significance
Select item 1035590	NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr)	MPEG1 (P405T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2275135	NM_001039396.2(MPEG1):c.1193A>C (p.Gln398Pro)	MPEG1 (Q398P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1035588	NM_001039396.2(MPEG1):c.1192C>T (p.Gln398Ter)	MPEG1 (Q398*)	Single nucleotide variant (nonsense)	Immunodeficiency 77	GPathogenic
Select item 3201647	NM_001039396.2(MPEG1):c.1156A>G (p.Thr386Ala)	MPEG1 (T386A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065892	NM_001039396.2(MPEG1):c.1078T>A (p.Phe360Ile)	MPEG1 (F360I)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 2548547	NM_001039396.2(MPEG1):c.1009G>A (p.Ala337Thr)	MPEG1 (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411306	NM_001039396.2(MPEG1):c.1004A>C (p.Glu335Ala)	MPEG1 (E335A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505512	NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)	MPEG1 (P325S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 3201725	NM_001039396.2(MPEG1):c.805A>G (p.Asn269Asp)	MPEG1 (N269D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630896	NM_001039396.2(MPEG1):c.775C>G (p.Gln259Glu)	MPEG1 (Q259E)	Single nucleotide variant (missense variant)	MPEG1-related disorder	GUncertain significance
Select item 3295667	NM_001039396.2(MPEG1):c.766T>C (p.Tyr256His)	MPEG1 (Y256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431431	NM_001039396.2(MPEG1):c.746A>G (p.Asn249Ser)	MPEG1 (N249S)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 3201722	NM_001039396.2(MPEG1):c.719C>T (p.Ala240Val)	MPEG1 (A240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785352	NM_001039396.2(MPEG1):c.705C>T (p.Ala235=)	MPEG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3295673	NM_001039396.2(MPEG1):c.697C>T (p.Arg233Cys)	MPEG1 (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641810	NM_001039396.2(MPEG1):c.671C>T (p.Ser224Phe)	MPEG1 (S224F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 666271	NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile)	MPEG1 (L221I)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 3201720	NM_001039396.2(MPEG1):c.650A>G (p.Gln217Arg)	MPEG1 (Q217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472121	NM_001039396.2(MPEG1):c.646A>C (p.Ile216Leu)	MPEG1 (I216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065464	NM_001039396.2(MPEG1):c.623G>A (p.Ser208Asn)	MPEG1 (S208N)	Single nucleotide variant (missense variant)	Immunodeficiency 77	GUncertain significance
Select item 3201713	NM_001039396.2(MPEG1):c.577C>G (p.Leu193Val)	MPEG1 (L193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295668	NM_001039396.2(MPEG1):c.560C>T (p.Thr187Met)	MPEG1 (T187M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511635	NM_001039396.2(MPEG1):c.545T>A (p.Leu182Gln)	MPEG1 (L182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278851	NM_001039396.2(MPEG1):c.529G>C (p.Asp177His)	MPEG1 (D177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726843	NM_001039396.2(MPEG1):c.529G>A (p.Asp177Asn)	MPEG1 (D177N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2612807	NM_001039396.2(MPEG1):c.508G>A (p.Gly170Ser)	MPEG1 (G170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033719	NM_001039396.2(MPEG1):c.491C>T (p.Thr164Ile)	MPEG1 (T164I)	Single nucleotide variant (missense variant)	MPEG1-related disorder	GLikely benign
Select item 2312502	NM_001039396.2(MPEG1):c.464T>C (p.Leu155Pro)	MPEG1 (L155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233644	NM_001039396.2(MPEG1):c.448G>A (p.Val150Ile)	MPEG1 (V150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698719	NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter)	MPEG1 (R149*)	Single nucleotide variant (nonsense)	Immunodeficiency 77	GUncertain significance
Select item 2533766	NM_001039396.2(MPEG1):c.413C>A (p.Thr138Asn)	MPEG1 (T138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576050	NM_001039396.2(MPEG1):c.388del (p.Ser130fs)	MPEG1 (S130fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2215377	NM_001039396.2(MPEG1):c.379G>A (p.Gly127Ser)	MPEG1 (G127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201694	NM_001039396.2(MPEG1):c.376A>G (p.Asn126Asp)	MPEG1 (N126D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295670	NM_001039396.2(MPEG1):c.367T>C (p.Ser123Pro)	MPEG1 (S123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201691	NM_001039396.2(MPEG1):c.361C>T (p.Leu121Phe)	MPEG1 (L121F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641811	NM_001039396.2(MPEG1):c.357C>G (p.Leu119=)	MPEG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538611	NM_001039396.2(MPEG1):c.355C>T (p.Leu119Phe)	MPEG1 (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295669	NM_001039396.2(MPEG1):c.328A>G (p.Ser110Gly)	MPEG1 (S110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1035586	NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala)	MPEG1 (T73A)	Single nucleotide variant (missense variant)	Immunodeficiency 77 +1 more	GLikely benign
Select item 3295671	NM_001039396.2(MPEG1):c.188T>C (p.Met63Thr)	MPEG1 (M63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388742	NM_001039396.2(MPEG1):c.164G>A (p.Arg55Gln)	MPEG1 (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526420	NM_001039396.2(MPEG1):c.148G>C (p.Gly50Arg)	MPEG1 (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201649	NM_001039396.2(MPEG1):c.130G>C (p.Glu44Gln)	MPEG1 (E44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295666	NM_001039396.2(MPEG1):c.94C>A (p.Gln32Lys)	MPEG1 (Q32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980952	GRCh37/hg19 11q12.1(chr11:58602498-59091934)x3	DTX4, FAM111A +4 more	Copy number gain	not provided	GUncertain significance
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	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

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Items: 85