MID1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2869710	NM_000381.4(MID1):c.1655+15_1655+20del	MID1	Deletion (intron variant)	not provided	GLikely benign
Select item 981742	NM_000381.4(MID1):c.1655+1G>A	MID1	Single nucleotide variant (splice donor variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 1805722	NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)	MID1 (S512N +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 2969093	NM_000381.4(MID1):c.1647A>T (p.Gly549=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928865	NM_000381.4(MID1):c.1647A>G (p.Gly549=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718444	NM_000381.4(MID1):c.1638C>T (p.Val546=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992858	NM_000381.4(MID1):c.1619_1638del (p.Arg540fs)	MID1 (R502fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 10806	NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)	MID1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2862418	NM_000381.4(MID1):c.1617C>G (p.Gly539=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192371	NM_000381.4(MID1):c.1613G>C (p.Ser538Thr)	MID1 (S538T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1710143	NM_000381.4(MID1):c.1609_1611dup (p.Asp537_Ser538insAsp)	MID1	Duplication (inframe_insertion)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 547525	NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter)	MID1 (S538* +1 more)	Duplication (nonsense)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 2633640	NM_000381.4(MID1):c.1538_1605dup (p.Ile536delinsProArgArgValThrHisLeuAsnAlaSerProAlaArgGlyAlaMetGluTer)	MID1	Duplication (nonsense)	MID1-related disorder	GLikely pathogenic
Select item 587781	NM_000381.4(MID1):c.1605T>C (p.Phe535=)	MID1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2488641	NM_000381.4(MID1):c.1586G>C (p.Gly529Ala)	MID1 (G529A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1775299	NM_000381.4(MID1):c.1562G>T (p.Arg521Leu)	MID1 (R521L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 426567	NM_000381.4(MID1):c.1562G>A (p.Arg521His)	MID1 (R521H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199014	NM_000381.4(MID1):c.1561C>T (p.Arg521Cys)	MID1 (R521C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 10807	NM_000381.4(MID1):c.1558dup (p.Glu520fs)	MID1 (E482fs +1 more)	Duplication (frameshift variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 2746905	NM_000381.4(MID1):c.1553C>T (p.Thr518Ile)	MID1 (T480I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502507	NM_000381.4(MID1):c.1553C>G (p.Thr518Arg)	MID1 (T480R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008732	NM_000381.4(MID1):c.1551C>T (p.His517=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 10812	NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer)	MID1	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 435866	NM_000381.4(MID1):c.1541AGA[1] (p.Lys515del)	MID1 (K515del +1 more)	Microsatellite (inframe_deletion)	MID1-related disorder +2 more	GUncertain significance
Select item 3016672	NM_000381.4(MID1):c.1539C>T (p.Ser513=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 199013	NM_000381.4(MID1):c.1537T>C (p.Ser513Pro)	MID1 (S513P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211497	NM_000381.4(MID1):c.1510T>C (p.Leu504=)	MID1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 689640	NM_000381.4(MID1):c.1495G>A (p.Val499Met)	MID1 (V461M +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 211496	NM_000381.4(MID1):c.1489C>T (p.Leu497=)	MID1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2281914	NM_000381.4(MID1):c.1484G>A (p.Arg495Gln)	MID1 (R457Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523781	NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)	MID1 (R495* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1995837	NM_000381.4(MID1):c.1476T>C (p.Ser492=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803765	NM_000381.4(MID1):c.1470C>T (p.Pro490=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696820	NM_000381.4(MID1):c.1464G>A (p.Leu488=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785165	NM_000381.4(MID1):c.1462C>T (p.Leu488=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136026	NM_000381.4(MID1):c.1457T>G (p.Phe486Cys)	MID1 (F448C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547524	NM_000381.4(MID1):c.1454del (p.Pro485fs)	MID1 (P485fs +1 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 2983667	NM_000381.4(MID1):c.1452A>G (p.Gln484=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807253	NM_000381.4(MID1):c.1449C>T (p.Ser483=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881936	NM_000381.4(MID1):c.1448-16_1448-7dup	MID1	Duplication (intron variant)	not provided	GLikely benign
Select item 2866848	NM_000381.4(MID1):c.1448-23_1448-18dup	MID1	Duplication (intron variant)	not provided	GLikely benign
Select item 2753202	NM_000381.4(MID1):c.1448-22_1448-17del	MID1	Deletion (intron variant)	not provided	GLikely benign
Select item 2964813	NM_000381.4(MID1):c.1448-20T>G	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3012241	NM_000381.4(MID1):c.1447+20C>T	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757161	NM_000381.4(MID1):c.1447+18A>G	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913767	NM_000381.4(MID1):c.1447+18A>T	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198721	NM_000381.4(MID1):c.1444_1447dup (p.Ser483fs)	MID1 (S483fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3000413	NM_000381.4(MID1):c.1446C>T (p.Asn482=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888942	NM_000381.4(MID1):c.1443A>C (p.Thr481=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2959486	NM_000381.4(MID1):c.1435T>C (p.Leu479=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782743	NM_000381.4(MID1):c.1434G>A (p.Lys478=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030758	NM_000381.4(MID1):c.1425G>C (p.Glu475Asp)	MID1 (E475D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011505	NM_000381.4(MID1):c.1425G>A (p.Glu475=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 284861	NM_000381.4(MID1):c.1414_1419dup (p.Arg472_Ser473dup)	MID1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2433748	NM_000381.4(MID1):c.1415G>A (p.Arg472His)	MID1 (R434H +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 1174928	NM_000381.4(MID1):c.1414C>T (p.Arg472Cys)	MID1 (R434C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1772019	NM_000381.4(MID1):c.1410C>T (p.Gly470=)	MID1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 547523	NM_000381.4(MID1):c.1393G>C (p.Ala465Pro)	MID1 (A465P +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 2862089	NM_000381.4(MID1):c.1374G>A (p.Lys458=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874363	NM_000381.4(MID1):c.1370C>T (p.Thr457Ile)	MID1 (T419I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986229	NM_000381.4(MID1):c.1365C>T (p.Ser455=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 522030	NM_000381.4(MID1):c.1361A>G (p.Gln454Arg)	MID1 (Q454R +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2756040	NM_000381.4(MID1):c.1359G>A (p.Leu453=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 546092	NM_000381.4(MID1):c.1354G>A (p.Gly452Ser)	MID1 (G452S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895193	NM_000381.4(MID1):c.1353C>T (p.His451=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2872529	NM_000381.4(MID1):c.1350G>T (p.Val450=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2856553	NM_000381.4(MID1):c.1350G>A (p.Val450=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714753	NM_000381.4(MID1):c.1347G>A (p.Thr449=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3003717	NM_000381.4(MID1):c.1346C>T (p.Thr449Met)	MID1 (T411M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 589658	NM_000381.4(MID1):c.1342T>C (p.Tyr448His)	MID1 (Y448H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2659975	NM_000381.4(MID1):c.1337A>T (p.Asn446Ile)	MID1 (N408I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707345	NM_000381.4(MID1):c.1326C>T (p.Asn442=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862493	NM_000381.4(MID1):c.1323C>T (p.Pro441=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 10805	NM_000381.4(MID1):c.1311GAT[1] (p.Met438del)	MID1 (M438del +1 more)	Microsatellite (inframe_deletion)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 1333357	NM_000381.4(MID1):c.1310G>A (p.Trp437Ter)	MID1 (W399* +1 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 3012033	NM_000381.4(MID1):c.1308C>T (p.Ser436=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 167301	NM_000381.4(MID1):c.1302_1305dup (p.Ser436Ter)	MID1 (S398* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 92874	NM_000381.4(MID1):c.1299G>A (p.Ser433=)	MID1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1342643	NM_000381.4(MID1):c.1298C>T (p.Ser433Leu)	MID1 (S395L +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2715212	NM_000381.4(MID1):c.1290G>A (p.Leu430=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964171	NM_000381.4(MID1):c.1286-13_1286-10dup	MID1	Duplication (intron variant)	not provided	GBenign
Select item 3000941	NM_000381.4(MID1):c.1286-20A>G	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181250	NM_000381.4(MID1):c.1286-219T>C	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256995	NM_000381.4(MID1):c.1285+334dup	MID1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1266365	NM_000381.4(MID1):c.1285+285C>T	MID1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1287079	NM_000381.4(MID1):c.1285+282A>C	MID1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227134	NM_000381.4(MID1):c.1285+147G>C	MID1 (A440P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2977894	NM_000381.4(MID1):c.1285+13T>C	MID1 (M395T +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2779745	NM_000381.4(MID1):c.1285+12A>G	MID1 (M433V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 593868	NM_000381.4(MID1):c.1282G>A (p.Val428Ile)	MID1 (V428I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992805	NM_000381.4(MID1):c.1279G>A (p.Val427Ile)	MID1 (V389I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2981205	NM_000381.4(MID1):c.1278C>T (p.Asn426=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 872684	NM_000381.4(MID1):c.1270C>T (p.Gln424Ter)	MID1 (Q386* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2839304	NM_000381.4(MID1):c.1266C>G (p.Thr422=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 198417	NM_000381.4(MID1):c.1266C>T (p.Thr422=)	MID1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 589034	NM_000381.4(MID1):c.1242C>T (p.Tyr414=)	MID1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3005239	NM_000381.4(MID1):c.1239C>T (p.Ser413=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 92873	NM_000381.4(MID1):c.1230C>T (p.Ser410=)	MID1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2795561	NM_000381.4(MID1):c.1227C>T (p.Phe409=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1753481	NM_000381.4(MID1):c.1222G>T (p.Glu408Ter)	MID1 (E408* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic

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