"GeneDx"[submitter] AND "MID1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 1800685	NM_000381.4(MID1):c.1937A>G (p.Lys646Arg)	LOC126863207, MID1 (K608R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375690	NM_000381.4(MID1):c.1736G>C (p.Arg579Pro)	LOC126863207, MID1 (R541P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378139	NM_000381.4(MID1):c.1679A>G (p.Lys560Arg)	LOC126863207, MID1 (K560R +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GUncertain significance
Select item 3338810	NM_000381.4(MID1):c.1656G>A (p.Trp552Ter)	LOC126863207, MID1 (W514* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 523781	NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)	MID1 (R495* +1 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome +1 more	GPathogenic
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 198721	NM_000381.4(MID1):c.1444_1447dup (p.Ser483fs)	MID1 (S483fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 546092	NM_000381.4(MID1):c.1354G>A (p.Gly452Ser)	MID1 (G452S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3343614	NM_000381.4(MID1):c.1286-1G>C	MID1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 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 92873	NM_000381.4(MID1):c.1230C>T (p.Ser410=)	MID1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1741284	NM_000381.4(MID1):c.1178C>T (p.Thr393Ile)	MID1 (T355I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1734623	NM_000381.4(MID1):c.1153C>G (p.Pro385Ala)	MID1 (P385A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1226836	NM_000381.4(MID1):c.1142-88G>A	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702864	NM_000381.4(MID1):c.1102C>T (p.Arg368Ter)	MID1 (R330* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1297835	NM_000381.4(MID1):c.1014-73del	MID1	Deletion (intron variant)	not provided	GBenign
Select item 1201526	NM_000381.4(MID1):c.1012A>G (p.Arg338Gly)	MID1 (R300G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314804	NM_000381.4(MID1):c.992C>G (p.Thr331Ser)	MID1 (T293S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504424	NM_000381.4(MID1):c.973C>G (p.His325Asp)	MID1 (H287D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572750	NM_000381.4(MID1):c.949del (p.Glu317fs)	MID1 (E279fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 92882	NM_000381.4(MID1):c.947C>A (p.Ala316Glu)	MID1 (A316E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367603	NM_000381.4(MID1):c.874C>T (p.Leu292Phe)	MID1 (L254F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574803	NM_000381.4(MID1):c.872G>C (p.Arg291Thr)	MID1 (R253T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309225	NM_000381.4(MID1):c.870G>A (p.Met290Ile)	MID1 (M252I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282384	NM_000381.4(MID1):c.865-131T>C	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342470	NM_000381.4(MID1):c.864+1G>A	MID1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 547521	NM_000381.4(MID1):c.829C>T (p.Arg277Ter)	MID1 (R277* +2 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome +2 more	GPathogenic
Select item 1708775	NM_000381.4(MID1):c.769C>A (p.Arg257Ser)	MID1 (R219S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1286838	NM_000381.4(MID1):c.757-142A>C	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662087	NM_000381.4(MID1):c.757-5721del	MID1 (E302fs)	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 1290177	NM_000381.4(MID1):c.757-10782G>A	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489249	NM_000381.4(MID1):c.756+5G>A	MID1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 3375841	NM_000381.4(MID1):c.734T>C (p.Ile245Thr)	MID1 (I207T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364723	NM_000381.4(MID1):c.689T>G (p.Leu230Arg)	MID1 (L192R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206173	NM_000381.4(MID1):c.661-6G>T	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 196261	NM_000381.4(MID1):c.661-7dup	MID1	Duplication (intron variant)	not specified +1 more	GBenign
Select item 196260	NM_000381.4(MID1):c.661-22_661-21dup	MID1	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1205954	NM_000381.4(MID1):c.661-7del	MID1	Deletion (intron variant)	not provided	GBenign
Select item 1210722	NM_000381.4(MID1):c.639_642del (p.Glu214fs)	MID1 (E214fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 3372210	NM_000381.4(MID1):c.631G>C (p.Ala211Pro)	MID1 (A211P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722798	NM_000381.4(MID1):c.627G>A (p.Val209=)	MID1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 92879	NM_000381.4(MID1):c.498G>A (p.Pro166=)	MID1	Single nucleotide variant (synonymous variant)	X-linked Opitz G/BBB syndrome +3 more	GBenign/Likely benign
Select item 2501898	NM_000381.4(MID1):c.448C>T (p.His150Tyr)	MID1 (H150Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424244	NM_000381.4(MID1):c.340G>A (p.Ala114Thr)	MID1 (A114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500637	NM_000381.4(MID1):c.329C>T (p.Thr110Ile)	MID1 (T110I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504446	NM_000381.4(MID1):c.325A>G (p.Asn109Asp)	MID1 (N109D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372747	NM_000381.4(MID1):c.214G>A (p.Gly72Arg)	MID1 (G72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574903	NM_000381.4(MID1):c.203G>A (p.Arg68Gln)	MID1 (R68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242781	NM_000381.4(MID1):c.-56-195T>C	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277194	NM_000381.4(MID1):c.-56-232del	MID1	Deletion (intron variant)	not provided	GBenign
Select item 58590	GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2	HCCS-DT, LOC121853050 +2 more	Copy number gain	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253612	GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1	ARSF, XG +28 more	Copy number loss	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77