MIA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 148650	GRCh38/hg38 1q41(chr1:221979950-223007060)x3	AIDA, BROX +34 more	Copy number gain	See cases	GUncertain significance
Select item 2639913	NC_000001.11:g.222617956_222617960C[4]GTCCCCG[1]	MIA3	Microsatellite	not provided	GLikely benign
Select item 2639914	NC_000001.11:g.222617967_222617972del	MIA3	Deletion	not provided	GLikely benign
Select item 2535559	NM_198551.4(MIA3):c.44G>A (p.Arg15Gln)	MIA3 (R15Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208264	NM_198551.4(MIA3):c.320A>C (p.Glu107Ala)	MIA3 (E107A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460976	NM_198551.4(MIA3):c.421T>G (p.Leu141Val)	MIA3 (L141V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240649	NM_198551.4(MIA3):c.425G>A (p.Gly142Glu)	MIA3 (G142E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328156	NM_198551.4(MIA3):c.536C>T (p.Pro179Leu)	MIA3 (P15L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237967	NM_198551.4(MIA3):c.540A>C (p.Glu180Asp)	MIA3 (E16D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024902	NM_198551.4(MIA3):c.673G>C (p.Ala225Pro)	MIA3 (A225P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240324	NM_198551.4(MIA3):c.847G>T (p.Ala283Ser)	MIA3 (A119S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232903	NM_198551.4(MIA3):c.886G>A (p.Val296Ile)	MIA3 (V132I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2238577	NM_198551.4(MIA3):c.1015A>G (p.Met339Val)	MIA3 (M339V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2406215	NM_198551.4(MIA3):c.1081G>A (p.Glu361Lys)	MIA3 (E197K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214813	NM_198551.4(MIA3):c.1087A>G (p.Lys363Glu)	MIA3 (K199E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782938	NM_198551.4(MIA3):c.1099A>T (p.Thr367Ser)	MIA3 (T203S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2265957	NM_198551.4(MIA3):c.1281A>T (p.Lys427Asn)	MIA3 (K263N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551177	NM_198551.4(MIA3):c.1310C>T (p.Pro437Leu)	MIA3 (P273L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301298	NM_198551.4(MIA3):c.1328G>C (p.Gly443Ala)	MIA3 (G279A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607377	NM_198551.4(MIA3):c.1357A>C (p.Asn453His)	MIA3 (N289H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617497	NM_198551.4(MIA3):c.1377C>T (p.Asn459=)	MIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2323213	NM_198551.4(MIA3):c.1378G>T (p.Ala460Ser)	MIA3 (A460S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339638	NM_198551.4(MIA3):c.1390A>G (p.Ile464Val)	MIA3 (I300V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385649	NM_198551.4(MIA3):c.1439A>C (p.Gln480Pro)	MIA3 (Q480P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511256	NM_198551.4(MIA3):c.1475G>A (p.Gly492Asp)	MIA3 (G328D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314063	NM_198551.4(MIA3):c.1537G>C (p.Gly513Arg)	MIA3 (G513R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623607	NM_198551.4(MIA3):c.1579G>A (p.Asp527Asn)	MIA3 (D363N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398566	NM_198551.4(MIA3):c.1601A>G (p.His534Arg)	MIA3 (H534R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386468	NM_198551.4(MIA3):c.1624G>A (p.Glu542Lys)	MIA3 (E378K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237638	NM_198551.4(MIA3):c.1681A>C (p.Lys561Gln)	MIA3 (K561Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344746	NM_198551.4(MIA3):c.1699A>G (p.Met567Val)	MIA3 (M567V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322317	NM_198551.4(MIA3):c.1741C>T (p.Pro581Ser)	MIA3 (P417S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346173	NM_198551.4(MIA3):c.1861G>A (p.Glu621Lys)	MIA3 (E621K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548449	NM_198551.4(MIA3):c.1919T>G (p.Leu640Trp)	MIA3 (L640W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483239	NM_198551.4(MIA3):c.1978G>C (p.Glu660Gln)	MIA3 (E660Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385651	NM_198551.4(MIA3):c.2107G>A (p.Gly703Arg)	MIA3 (G539R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362159	NM_198551.4(MIA3):c.2135G>A (p.Gly712Glu)	MIA3 (G712E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368115	NM_198551.4(MIA3):c.2215G>A (p.Ala739Thr)	MIA3 (A739T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377222	NM_198551.4(MIA3):c.2221C>T (p.Arg741Trp)	MIA3 (R577W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2600898	NM_198551.4(MIA3):c.2368A>C (p.Lys790Gln)	MIA3 (K626Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538575	NM_198551.4(MIA3):c.2372C>G (p.Thr791Arg)	MIA3 (T791R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383053	NM_198551.4(MIA3):c.2375G>A (p.Ser792Asn)	MIA3 (S628N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2597931	NM_198551.4(MIA3):c.2480G>A (p.Arg827Gln)	MIA3 (R663Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639915	NM_198551.4(MIA3):c.2637C>A (p.Asp879Glu)	MIA3 (D715E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2472395	NM_198551.4(MIA3):c.2663G>T (p.Gly888Val)	MIA3 (G888V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639916	NM_198551.4(MIA3):c.2728A>G (p.Thr910Ala)	MIA3 (T746A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237639	NM_198551.4(MIA3):c.2770C>A (p.Leu924Ile)	MIA3 (L760I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300394	NM_198551.4(MIA3):c.2837A>T (p.His946Leu)	MIA3 (H946L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594497	NM_198551.4(MIA3):c.2895G>C (p.Glu965Asp)	MIA3 (E965D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353022	NM_198551.4(MIA3):c.2969C>A (p.Ala990Glu)	MIA3 (A990E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208840	NM_198551.4(MIA3):c.2990G>A (p.Arg997His)	MIA3 (R997H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349193	NM_198551.4(MIA3):c.3397G>A (p.Ala1133Thr)	MIA3 (A1133T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238861	NM_198551.4(MIA3):c.3397G>T (p.Ala1133Ser)	MIA3 (A1133S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543073	NM_198551.4(MIA3):c.3407C>T (p.Pro1136Leu)	MIA3 (P1136L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527889	NM_198551.4(MIA3):c.3413G>A (p.Ser1138Asn)	MIA3 (S974N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550378	NM_198551.4(MIA3):c.3433G>A (p.Ala1145Thr)	MIA3 (A1145T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385638	NM_198551.4(MIA3):c.3459G>A (p.Met1153Ile)	MIA3 (M989I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264678	NM_198551.4(MIA3):c.3487A>G (p.Thr1163Ala)	MIA3 (T999A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385652	NM_198551.4(MIA3):c.3507G>T (p.Gln1169His)	MIA3 (Q1005H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340547	NM_198551.4(MIA3):c.3550A>G (p.Ile1184Val)	MIA3 (I62V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064426	NM_198551.4(MIA3):c.3621A>G (p.Arg1207=)	MIA3	Single nucleotide variant (synonymous variant)	ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES	GPathogenic
Select item 1684531	NM_198551.4(MIA3):c.3632-105A>G	MIA3	Single nucleotide variant (intron variant)	Coronary artery disorder	GBenign
Select item 2471816	NM_198551.4(MIA3):c.3635C>T (p.Thr1212Met)	MIA3 (T1212M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584658	NM_198551.4(MIA3):c.3721-9_3721-5del	MIA3	Microsatellite (intron variant)	Odontochondrodysplasia 2 with hearing loss and diabetes	GUncertain significance
Select item 2369675	NM_198551.4(MIA3):c.3874T>C (p.Ser1292Pro)	MIA3 (S1128P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479396	NM_198551.4(MIA3):c.4020G>C (p.Glu1340Asp)	MIA3 (E1176D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547951	NM_198551.4(MIA3):c.4151T>C (p.Phe1384Ser)	MIA3 (F1325S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289500	NM_198551.4(MIA3):c.4265A>C (p.Glu1422Ala)	MIA3 (E1422A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270585	NM_198551.4(MIA3):c.4324G>A (p.Asp1442Asn)	MIA3 (D1278N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471689	NM_198551.4(MIA3):c.4373C>T (p.Ser1458Phe)	MIA3 (S1458F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595640	NM_198551.4(MIA3):c.4375C>T (p.Arg1459Trp)	MIA3 (R1459W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474017	NM_198551.4(MIA3):c.4393T>G (p.Ser1465Ala)	MIA3 (S343A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549360	NM_198551.4(MIA3):c.4394C>T (p.Ser1465Leu)	MIA3 (S1465L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553538	NM_198551.4(MIA3):c.4409A>C (p.Asp1470Ala)	MIA3 (D1306A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322752	NM_198551.4(MIA3):c.4500C>G (p.Asn1500Lys)	MIA3 (N1336K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467261	NM_198551.4(MIA3):c.4626G>C (p.Glu1542Asp)	MIA3 (E1542D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487204	NM_198551.4(MIA3):c.4633C>T (p.Arg1545Trp)	MIA3 (R1545W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483039	NM_198551.4(MIA3):c.4687G>A (p.Ala1563Thr)	MIA3 (A1504T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639917	NM_198551.4(MIA3):c.4740A>G (p.Leu1580=)	MIA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257955	NM_198551.4(MIA3):c.4798G>A (p.Glu1600Lys)	MIA3 (E1436K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220617	NM_198551.4(MIA3):c.4903A>G (p.Met1635Val)	MIA3 (M1471V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289501	NM_198551.4(MIA3):c.4915G>C (p.Glu1639Gln)	MIA3 (E1639Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289502	NM_198551.4(MIA3):c.4916A>C (p.Glu1639Ala)	MIA3 (E1580A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385653	NM_198551.4(MIA3):c.5246T>C (p.Val1749Ala)	MIA3 (V1690A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297632	NM_198551.4(MIA3):c.5360C>G (p.Pro1787Arg)	MIA3 (P1623R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350479	NM_198551.4(MIA3):c.5426G>A (p.Arg1809His)	MIA3 (R687H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550065	NM_198551.4(MIA3):c.5492A>C (p.His1831Pro)	MIA3 (H1831P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318772	NM_198551.4(MIA3):c.5501G>A (p.Gly1834Glu)	MIA3 (G1670E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2239732	NM_198551.4(MIA3):c.5501G>T (p.Gly1834Val)	MIA3 (G1670V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265547	NM_198551.4(MIA3):c.5596G>A (p.Gly1866Ser)	MIA3 (G1702S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623654	NM_198551.4(MIA3):c.5612C>A (p.Pro1871Gln)	MIA3 (P1871Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278773	NM_198551.4(MIA3):c.5624C>T (p.Ala1875Val)	MIA3 (A1711V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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