"Ambry Genetics"[submitter] AND "UNC79"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076491	NM_182971.3(COX8C):c.14G>A (p.Arg5His)	COX8C, UNC79 (R5H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288717	NM_182971.3(COX8C):c.28G>T (p.Ala10Ser)	COX8C, UNC79 (A10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269064	NM_182971.3(COX8C):c.31C>T (p.Arg11Cys)	COX8C, UNC79 (R11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269063	NM_182971.3(COX8C):c.41A>G (p.Tyr14Cys)	COX8C, UNC79 (Y14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370991	NM_182971.3(COX8C):c.158C>T (p.Thr53Met)	COX8C, UNC79 (T53M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260440	NM_182971.3(COX8C):c.202C>A (p.Gln68Lys)	COX8C, UNC79 (Q68K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186665	NM_001395159.1(UNC79):c.574G>A (p.Asp192Asn)	UNC79 (D192N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186672	NM_001395159.1(UNC79):c.585A>C (p.Glu195Asp)	UNC79 (E18D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374672	NM_001395159.1(UNC79):c.660C>G (p.Asn220Lys)	UNC79 (N220K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511695	NM_001395159.1(UNC79):c.796C>T (p.Pro266Ser)	UNC79 (P89S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237092	NM_001395159.1(UNC79):c.992C>T (p.Ala331Val)	UNC79 (A331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186675	NM_001395159.1(UNC79):c.1108A>G (p.Ile370Val)	UNC79 (I193V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236336	NM_001395159.1(UNC79):c.1183C>T (p.Arg395Cys)	UNC79 (R395C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333887	NM_001395159.1(UNC79):c.1204C>T (p.Arg402Trp)	UNC79 (R225W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186677	NM_001395159.1(UNC79):c.1259C>T (p.Ala420Val)	UNC79 (A420V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186678	NM_001395159.1(UNC79):c.1408C>T (p.Arg470Trp)	UNC79 (R293W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212350	NM_001395159.1(UNC79):c.1559C>T (p.Thr520Ile)	UNC79 (T343I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524784	NM_001395159.1(UNC79):c.1588G>A (p.Val530Met)	UNC79 (V530M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314160	NM_001395159.1(UNC79):c.1637G>C (p.Gly546Ala)	UNC79 (G369A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559047	NM_001395159.1(UNC79):c.1661C>G (p.Pro554Arg)	UNC79 (P377R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541693	NM_001395159.1(UNC79):c.1720A>G (p.Met574Val)	UNC79 (M574V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204165	NM_001395159.1(UNC79):c.1741A>G (p.Met581Val)	UNC79 (M404V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383158	NM_001395159.1(UNC79):c.2078C>T (p.Ser693Leu)	UNC79 (S516L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211617	NM_001395159.1(UNC79):c.2088T>G (p.Asp696Glu)	UNC79 (D519E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454832	NM_001395159.1(UNC79):c.2155G>T (p.Ala719Ser)	UNC79 (A542S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233386	NM_001395159.1(UNC79):c.2207G>A (p.Arg736Gln)	UNC79 (R736Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211909	NM_001395159.1(UNC79):c.2237G>A (p.Arg746Gln)	UNC79 (R569Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221737	NM_001395159.1(UNC79):c.2306G>A (p.Arg769His)	UNC79 (R592H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343609	NM_001395159.1(UNC79):c.2318G>A (p.Arg773His)	UNC79 (R773H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186649	NM_001395159.1(UNC79):c.2388G>T (p.Met796Ile)	UNC79 (M796I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594722	NM_001395159.1(UNC79):c.2459C>T (p.Thr820Met)	UNC79 (T820M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357781	NM_001395159.1(UNC79):c.2462T>C (p.Met821Thr)	UNC79 (M644T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288658	NM_001395159.1(UNC79):c.2552A>C (p.Lys851Thr)	UNC79 (K674T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359534	NM_001395159.1(UNC79):c.2557G>A (p.Glu853Lys)	UNC79 (E853K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291721	NM_001395159.1(UNC79):c.2566A>G (p.Ile856Val)	UNC79 (I679V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217951	NM_001395159.1(UNC79):c.2569G>A (p.Glu857Lys)	UNC79 (E857K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186650	NM_001395159.1(UNC79):c.2593A>G (p.Ile865Val)	UNC79 (I688V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351545	NM_001395159.1(UNC79):c.2666C>T (p.Pro889Leu)	UNC79 (P712L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331079	NM_001395159.1(UNC79):c.2762G>A (p.Gly921Glu)	UNC79 (G744E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186651	NM_001395159.1(UNC79):c.2766G>T (p.Glu922Asp)	UNC79 (E745D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496061	NM_001395159.1(UNC79):c.2787G>T (p.Glu929Asp)	UNC79 (E929D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186652	NM_001395159.1(UNC79):c.2867T>C (p.Ile956Thr)	UNC79 (I779T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600239	NM_001395159.1(UNC79):c.2950C>G (p.Leu984Val)	UNC79 (L807V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186653	NM_001395159.1(UNC79):c.3005A>G (p.Tyr1002Cys)	UNC79 (Y1002C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186654	NM_001395159.1(UNC79):c.3013G>A (p.Asp1005Asn)	UNC79 (D828N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331084	NM_001395159.1(UNC79):c.3149G>A (p.Gly1050Asp)	UNC79 (G873D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614949	NM_001395159.1(UNC79):c.3227T>G (p.Ile1076Ser)	UNC79 (I1076S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331080	NM_001395159.1(UNC79):c.3239C>T (p.Thr1080Ile)	UNC79 (T903I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186655	NM_001395159.1(UNC79):c.3584C>T (p.Ala1195Val)	UNC79 (A1195V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186656	NM_001395159.1(UNC79):c.3658C>T (p.Arg1220Cys)	UNC79 (R1220C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186658	NM_001395159.1(UNC79):c.3682A>T (p.Arg1228Trp)	UNC79 (R1228W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331083	NM_001395159.1(UNC79):c.3685G>T (p.Asp1229Tyr)	UNC79 (D1052Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186659	NM_001395159.1(UNC79):c.3743C>T (p.Thr1248Ile)	UNC79 (T1071I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331075	NM_001395159.1(UNC79):c.3874G>A (p.Ala1292Thr)	UNC79 (A1292T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594779	NM_001395159.1(UNC79):c.3958G>A (p.Asp1320Asn)	UNC79 (D1298N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489759	NM_001395159.1(UNC79):c.4044G>A (p.Met1348Ile)	UNC79 (M1348I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507679	NM_001395159.1(UNC79):c.4046T>C (p.Ile1349Thr)	UNC79 (I1150T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186660	NM_001395159.1(UNC79):c.4217G>T (p.Arg1406Leu)	UNC79 (R1406L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610525	NM_001395159.1(UNC79):c.4411A>G (p.Ser1471Gly)	UNC79 (S1272G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243690	NM_001395159.1(UNC79):c.4418A>G (p.Asn1473Ser)	UNC79 (N1473S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481351	NM_001395159.1(UNC79):c.4644A>T (p.Leu1548Phe)	UNC79 (L1299F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259969	NM_001395159.1(UNC79):c.4727T>C (p.Ile1576Thr)	UNC79 (I1554T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239044	NM_001395159.1(UNC79):c.4778C>T (p.Ser1593Leu)	UNC79 (S1344L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300295	NM_001395159.1(UNC79):c.4796A>T (p.Asp1599Val)	UNC79 (D1350V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277419	NM_001395159.1(UNC79):c.4819G>C (p.Ala1607Pro)	UNC79 (A1358P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186661	NM_001395159.1(UNC79):c.4838G>C (p.Arg1613Thr)	UNC79 (R1591T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324440	NM_001395159.1(UNC79):c.4840C>T (p.Pro1614Ser)	UNC79 (P1365S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229273	NM_001395159.1(UNC79):c.4843A>C (p.Asn1615His)	UNC79 (N1366H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3186662	NM_001395159.1(UNC79):c.4930G>C (p.Asp1644His)	UNC79 (D1622H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305135	NM_001395159.1(UNC79):c.5068C>A (p.Pro1690Thr)	UNC79 (P1441T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186663	NM_001395159.1(UNC79):c.5077C>A (p.His1693Asn)	UNC79 (H1671N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622561	NM_001395159.1(UNC79):c.5092A>G (p.Thr1698Ala)	UNC79 (T1449A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410618	NM_001395159.1(UNC79):c.5105A>C (p.Asp1702Ala)	UNC79 (D1680A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186664	NM_001395159.1(UNC79):c.5125C>T (p.Leu1709Phe)	UNC79 (L1460F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552171	NM_001395159.1(UNC79):c.5161G>C (p.Glu1721Gln)	UNC79 (E1472Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331077	NM_001395159.1(UNC79):c.5188G>C (p.Gly1730Arg)	UNC79 (G1730R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490519	NM_001395159.1(UNC79):c.5284G>C (p.Glu1762Gln)	UNC79 (E1740Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186666	NM_001395159.1(UNC79):c.5324A>C (p.Asn1775Thr)	UNC79 (N1753T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295499	NM_001395159.1(UNC79):c.5407G>A (p.Glu1803Lys)	UNC79 (E1554K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331081	NM_001395159.1(UNC79):c.5489A>C (p.Glu1830Ala)	UNC79 (E1581A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2335909	NM_001395159.1(UNC79):c.5491A>G (p.Met1831Val)	UNC79 (M1809V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186667	NM_001395159.1(UNC79):c.5570C>A (p.Thr1857Asn)	UNC79 (T1608N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332847	NM_001395159.1(UNC79):c.5617G>A (p.Glu1873Lys)	UNC79 (E1873K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398894	NM_001395159.1(UNC79):c.5630C>T (p.Thr1877Ile)	UNC79 (T1877I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528520	NM_001395159.1(UNC79):c.5681A>G (p.Asp1894Gly)	UNC79 (D1645G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511827	NM_001395159.1(UNC79):c.5687C>A (p.Ala1896Asp)	UNC79 (A1647D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511828	NM_001395159.1(UNC79):c.5698G>C (p.Glu1900Gln)	UNC79 (E1900Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328733	NM_001395159.1(UNC79):c.5820T>A (p.Asp1940Glu)	UNC79 (D1691E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186668	NM_001395159.1(UNC79):c.5833A>G (p.Thr1945Ala)	UNC79 (T1696A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456076	NM_001395159.1(UNC79):c.5879C>T (p.Ala1960Val)	UNC79 (A1711V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186669	NM_001395159.1(UNC79):c.5882C>T (p.Pro1961Leu)	UNC79 (P1939L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287419	NM_001395159.1(UNC79):c.5892T>A (p.Asp1964Glu)	UNC79 (D1715E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2285792	NM_001395159.1(UNC79):c.5996G>A (p.Arg1999Gln)	UNC79 (R1977Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403251	NM_001395159.1(UNC79):c.6032T>C (p.Ile2011Thr)	UNC79 (I1762T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186670	NM_001395159.1(UNC79):c.6070C>T (p.Arg2024Cys)	UNC79 (R1775C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331082	NM_001395159.1(UNC79):c.6099C>A (p.Asn2033Lys)	UNC79 (N1784K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266216	NM_001395159.1(UNC79):c.6119C>A (p.Pro2040Gln)	UNC79 (P1791Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186671	NM_001395159.1(UNC79):c.6155T>C (p.Leu2052Pro)	UNC79 (L2030P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365203	NM_001395159.1(UNC79):c.6250G>C (p.Gly2084Arg)	UNC79 (G1835R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398531	NM_001395159.1(UNC79):c.6295A>G (p.Ile2099Val)	UNC79 (I2099V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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