ClinVar for Gene (Select 375056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350922	NM_198551.4(MIA3):c.4774G>A (p.Ala1592Thr)	MIA3 (A1428T +3 more)	Single nucleotide variant (missense variant)	MIA3-related condition	GLikely benign
Select item 3294689	NM_198551.4(MIA3):c.793A>G (p.Lys265Glu)	MIA3 (K265E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294687	NM_198551.4(MIA3):c.3257A>C (p.Asp1086Ala)	MIA3 (D922A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294686	NM_198551.4(MIA3):c.3347A>C (p.Glu1116Ala)	MIA3 (E1116A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294685	NM_198551.4(MIA3):c.4907T>C (p.Leu1636Pro)	MIA3 (L1636P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294684	NM_198551.4(MIA3):c.1962T>A (p.Asn654Lys)	MIA3 (N490K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294683	NM_198551.4(MIA3):c.4445T>C (p.Val1482Ala)	MIA3 (V1482A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294682	NM_198551.4(MIA3):c.1836G>C (p.Glu612Asp)	MIA3 (E612D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294681	NM_198551.4(MIA3):c.3448T>A (p.Tyr1150Asn)	MIA3 (Y986N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294680	NM_198551.4(MIA3):c.2026A>T (p.Arg676Trp)	MIA3 (R676W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294679	NM_198551.4(MIA3):c.2029C>T (p.Leu677Phe)	MIA3 (L513F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294678	NM_198551.4(MIA3):c.3170A>C (p.Glu1057Ala)	MIA3 (E893A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294677	NM_198551.4(MIA3):c.4826A>T (p.Glu1609Val)	MIA3 (E1550V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294676	NM_198551.4(MIA3):c.1519A>C (p.Met507Leu)	MIA3 (M507L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3294675	NM_198551.4(MIA3):c.4970G>A (p.Arg1657Gln)	MIA3 (R1493Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294674	NM_198551.4(MIA3):c.3759A>T (p.Lys1253Asn)	MIA3 (K1089N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294673	NM_198551.4(MIA3):c.274C>T (p.Arg92Cys)	MIA3 (R92C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294672	NM_198551.4(MIA3):c.316C>T (p.His106Tyr)	MIA3 (H106Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294671	NM_198551.4(MIA3):c.4969C>T (p.Arg1657Trp)	MIA3 (R1598W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294670	NM_198551.4(MIA3):c.2440C>T (p.Arg814Cys)	MIA3 (R650C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294669	NM_198551.4(MIA3):c.5461G>A (p.Val1821Ile)	MIA3 (V1762I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3294668	NM_198551.4(MIA3):c.4472A>G (p.Gln1491Arg)	MIA3 (Q1432R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294667	NM_198551.4(MIA3):c.4646A>C (p.Glu1549Ala)	MIA3 (E1385A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294666	NM_198551.4(MIA3):c.5030G>A (p.Cys1677Tyr)	MIA3 (C1618Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236424	NM_198551.4(MIA3):c.5087G>A (p.Arg1696Gln)	MIA3 (R1532Q +3 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 2 with hearing loss and diabetes	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3126080	NM_198551.4(MIA3):c.909T>G (p.Phe303Leu)	MIA3 (F139L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126079	NM_198551.4(MIA3):c.671A>C (p.Gln224Pro)	MIA3 (Q224P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126078	NM_198551.4(MIA3):c.670C>G (p.Gln224Glu)	MIA3 (Q224E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126077	NM_198551.4(MIA3):c.5656G>A (p.Asp1886Asn)	MIA3 (D764N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126076	NM_198551.4(MIA3):c.5518G>A (p.Ala1840Thr)	MIA3 (A1781T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3126075	NM_198551.4(MIA3):c.5325G>C (p.Met1775Ile)	MIA3 (M1775I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126074	NM_198551.4(MIA3):c.5263G>C (p.Val1755Leu)	MIA3 (V1696L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126072	NM_198551.4(MIA3):c.4648C>G (p.His1550Asp)	MIA3 (H1550D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126071	NM_198551.4(MIA3):c.4634G>A (p.Arg1545Gln)	MIA3 (R1381Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126070	NM_198551.4(MIA3):c.4555A>G (p.Lys1519Glu)	MIA3 (K1460E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126069	NM_198551.4(MIA3):c.4369G>A (p.Val1457Ile)	MIA3 (V1293I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3126068	NM_198551.4(MIA3):c.4199A>G (p.Asp1400Gly)	MIA3 (D1400G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126067	NM_198551.4(MIA3):c.4157A>C (p.Lys1386Thr)	MIA3 (K1222T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126066	NM_198551.4(MIA3):c.3994C>G (p.Leu1332Val)	MIA3 (L1168V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3126065	NM_198551.4(MIA3):c.3925A>G (p.Lys1309Glu)	MIA3 (K1145E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3126064	NM_198551.4(MIA3):c.3400G>A (p.Glu1134Lys)	MIA3 (E1134K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126063	NM_198551.4(MIA3):c.3121C>G (p.Leu1041Val)	MIA3 (L877V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126062	NM_198551.4(MIA3):c.2903C>G (p.Pro968Arg)	MIA3 (P804R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126061	NM_198551.4(MIA3):c.2895G>T (p.Glu965Asp)	MIA3 (E801D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126060	NM_198551.4(MIA3):c.2853G>T (p.Leu951Phe)	MIA3 (L787F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126059	NM_198551.4(MIA3):c.2799A>T (p.Gln933His)	MIA3 (Q933H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126057	NM_198551.4(MIA3):c.269T>C (p.Val90Ala)	MIA3 (V90A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3126056	NM_198551.4(MIA3):c.2695C>G (p.Pro899Ala)	MIA3 (P899A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126055	NM_198551.4(MIA3):c.2498G>C (p.Ser833Thr)	MIA3 (S669T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126054	NM_198551.4(MIA3):c.1964T>C (p.Leu655Pro)	MIA3 (L655P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126053	NM_198551.4(MIA3):c.1939G>A (p.Glu647Lys)	MIA3 (E647K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126052	NM_198551.4(MIA3):c.1687G>T (p.Ala563Ser)	MIA3 (A563S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126050	NM_198551.4(MIA3):c.1411G>A (p.Val471Ile)	MIA3 (V307I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126049	NM_198551.4(MIA3):c.1399A>G (p.Lys467Glu)	MIA3 (K303E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126048	NM_198551.4(MIA3):c.1330C>G (p.Leu444Val)	MIA3 (L280V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126047	NM_198551.4(MIA3):c.1239A>T (p.Glu413Asp)	MIA3 (E413D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126046	NM_198551.4(MIA3):c.1190C>T (p.Thr397Ile)	MIA3 (T397I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065730	NM_198551.4(MIA3):c.5669C>T (p.Pro1890Leu)	MIA3 (P1726L +5 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 2 with hearing loss and diabetes	GUncertain significance
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	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 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	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 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 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 2639914	NC_000001.11:g.222617967_222617972del	MIA3	Deletion	not provided	GLikely benign
Select item 2639913	NC_000001.11:g.222617956_222617960C[4]GTCCCCG[1]	MIA3	Microsatellite	not provided	GLikely benign
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 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 2617497	NM_198551.4(MIA3):c.1377C>T (p.Asn459=)	MIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2398566	NM_198551.4(MIA3):c.1601A>G (p.His534Arg)	MIA3 (H534R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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