"GeneDx"[submitter] AND "MIB1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 196

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 1205550	NM_020774.4(MIB1):c.-588G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 683638	NM_020774.4(MIB1):c.-425G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 668990	NM_020774.4(MIB1):c.-298G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1691591	NM_020774.4(MIB1):c.-281C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 517912	NM_020774.4(MIB1):c.-49_-41dup	LOC130062254, MIB1	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 422751	NM_020774.4(MIB1):c.-46GGC[1]	LOC130062254, MIB1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 506384	NM_020774.4(MIB1):c.-46G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1173032	NM_020774.4(MIB1):c.-5C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1200890	NM_020774.4(MIB1):c.4A>G (p.Ser2Gly)	LOC130062254, MIB1 (S2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704721	NM_020774.4(MIB1):c.60C>T (p.Arg20=)	MIB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3365911	NM_020774.4(MIB1):c.100G>A (p.Gly34Ser)	MIB1 (G34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198230	NM_020774.4(MIB1):c.105T>C (p.His35=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 392832	NM_020774.4(MIB1):c.127G>T (p.Glu43Ter)	MIB1 (E43*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1208681	NM_020774.4(MIB1):c.180C>T (p.Tyr60=)	MIB1, LOC130062255	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 424108	NM_020774.4(MIB1):c.192G>T (p.Gly64=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 390868	NM_020774.4(MIB1):c.201C>T (p.Asp67=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 514144	NM_020774.4(MIB1):c.228C>G (p.Thr76=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1803538	NM_020774.4(MIB1):c.229+3A>T	MIB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 507646	NM_020774.4(MIB1):c.229+14A>G	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203412	NM_020774.4(MIB1):c.229+229C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195783	NM_020774.4(MIB1):c.229+299T>G	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189649	NM_020774.4(MIB1):c.229+300C>A	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679092	NM_020774.4(MIB1):c.230-203G>C	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679561	NM_020774.4(MIB1):c.230-183C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679093	NM_020774.4(MIB1):c.230-29A>C	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511952	NM_020774.4(MIB1):c.230-6T>C	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 418296	NM_020774.4(MIB1):c.265C>T (p.Arg89Cys)	MIB1 (R89C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3373309	NM_020774.4(MIB1):c.277A>G (p.Ile93Val)	MIB1 (I93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253570	NM_020774.4(MIB1):c.368G>A (p.Arg123His)	MIB1 (R123H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371660	NM_020774.4(MIB1):c.381T>G (p.Ile127Met)	MIB1 (I127M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310092	NM_020774.4(MIB1):c.388C>T (p.Pro130Ser)	MIB1 (P130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 679094	NM_020774.4(MIB1):c.401+28C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199040	NM_020774.4(MIB1):c.402-29A>C	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523929	NM_020774.4(MIB1):c.407del (p.Leu136fs)	MIB1 (L136fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1313972	NM_020774.4(MIB1):c.434A>G (p.Lys145Arg)	MIB1 (K145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 671481	NM_020774.4(MIB1):c.435G>A (p.Lys145=)	MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 373758	NM_020774.4(MIB1):c.442G>T (p.Ala148Ser)	MIB1 (A148S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 489200	NM_020774.4(MIB1):c.448G>T (p.Gly150Ter)	MIB1 (G150*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3372780	NM_020774.4(MIB1):c.478_479delinsAT (p.Gly160Ile)	MIB1 (G160I)	Indel (missense variant)	not provided	GUncertain significance
Select item 3376087	NM_020774.4(MIB1):c.534_535del (p.Thr179fs)	MIB1 (T179fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 512065	NM_020774.4(MIB1):c.597T>C (p.Asn199=)	MIB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 507267	NM_020774.4(MIB1):c.603T>G (p.Ala201=)	MIB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1194827	NM_020774.4(MIB1):c.615C>T (p.Tyr205=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 392518	NM_020774.4(MIB1):c.636+7A>C	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 513815	NM_020774.4(MIB1):c.696T>G (p.Pro232=)	MIB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 679095	NM_020774.4(MIB1):c.703+71T>G	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679117	NM_020774.4(MIB1):c.703+110G>C	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207581	NM_020774.4(MIB1):c.704-129A>G	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254918	NM_020774.4(MIB1):c.704-33del	MIB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1198445	NM_020774.4(MIB1):c.704-27T>A	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 373656	NM_020774.4(MIB1):c.705T>C (p.Gly235=)	MIB1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 390978	NM_020774.4(MIB1):c.736T>C (p.Leu246=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 506511	NM_020774.4(MIB1):c.756A>C (p.Val252=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 390779	NM_020774.4(MIB1):c.768C>T (p.Leu256=)	MIB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3340795	NM_020774.4(MIB1):c.807del (p.Gly270fs)	MIB1 (G270fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 506382	NM_020774.4(MIB1):c.843A>T (p.Thr281=)	MIB1	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 7 +3 more	GBenign/Likely benign
Select item 2662422	NM_020774.4(MIB1):c.856T>C (p.Cys286Arg)	MIB1 (C286R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252736	NM_020774.4(MIB1):c.896C>A (p.Pro299Gln)	MIB1 (P299Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510701	NM_020774.4(MIB1):c.908+11T>C	MIB1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1260499	NM_020774.4(MIB1):c.908+177GT[17]	MIB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1207563	NM_020774.4(MIB1):c.908+177GT[16]	MIB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1279131	NM_020774.4(MIB1):c.908+177GT[13]	MIB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1271965	NM_020774.4(MIB1):c.908+177GT[14]	MIB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1266315	NM_020774.4(MIB1):c.908+177GT[12]	MIB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1191433	NM_020774.4(MIB1):c.909-180dup	MIB1	Duplication (intron variant)	not provided	GLikely benign
Select item 2444625	NM_020774.4(MIB1):c.912del (p.Arg303_Trp304insTer)	MIB1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 390165	NM_020774.4(MIB1):c.933C>T (p.Leu311=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 432617	NM_020774.4(MIB1):c.939dup (p.Ala314fs)	MIB1 (A314fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 450475	NM_020774.4(MIB1):c.952C>T (p.Arg318Ter)	MIB1 (R318*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1313370	NM_020774.4(MIB1):c.1039C>T (p.Arg347Ter)	MIB1 (R347*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1809884	NM_020774.4(MIB1):c.1066G>A (p.Gly356Arg)	MIB1 (G356R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518271	NM_020774.4(MIB1):c.1092+3A>G	MIB1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 678511	NM_020774.4(MIB1):c.1092+121C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679121	NM_020774.4(MIB1):c.1092+172G>A	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196552	NM_020774.4(MIB1):c.1092+254A>C	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513052	NM_020774.4(MIB1):c.1093-9T>C	MIB1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379846	NM_020774.4(MIB1):c.1108G>A (p.Gly370Ser)	MIB1 (G370S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503664	NM_020774.4(MIB1):c.1111C>T (p.Arg371Ter)	MIB1 (R371*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2443582	NM_020774.4(MIB1):c.1226A>G (p.Asn409Ser)	MIB1 (N409S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712898	NM_020774.4(MIB1):c.1235G>A (p.Gly412Asp)	MIB1 (G412D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681734	NM_020774.4(MIB1):c.1237+17_1237+18del	MIB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1217717	NM_020774.4(MIB1):c.1238-309T>A	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679879	NM_020774.4(MIB1):c.1238-118_1238-117del	MIB1	Deletion (intron variant)	not provided	GLikely benign
Select item 509596	NM_020774.4(MIB1):c.1245C>G (p.Leu415=)	MIB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3371645	NM_020774.4(MIB1):c.1249_1250dup (p.Gln417fs)	MIB1 (Q417fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3369892	NM_020774.4(MIB1):c.1291del (p.Leu431fs)	MIB1 (L431fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1327212	NM_020774.4(MIB1):c.1295A>G (p.Asn432Ser)	MIB1 (N432S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180407	NM_020774.4(MIB1):c.1322A>G (p.Asn441Ser)	MIB1 (N441S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1310969	NM_020774.4(MIB1):c.1355A>C (p.Lys452Thr)	MIB1 (K452T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1198992	NM_020774.4(MIB1):c.1371+283del	MIB1	Deletion (intron variant)	not provided	GLikely benign
Select item 678517	NM_020774.4(MIB1):c.1372-207T>A	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190543	NM_020774.4(MIB1):c.1372-11A>T	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2661960	NM_020774.4(MIB1):c.1372-10A>G	MIB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1311874	NM_020774.4(MIB1):c.1417C>T (p.Gln473Ter)	MIB1 (Q473*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1202826	NM_020774.4(MIB1):c.1435A>G (p.Ile479Val)	MIB1 (I479V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 515975	NM_020774.4(MIB1):c.1450T>C (p.Leu484=)	MIB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 522210	NM_020774.4(MIB1):c.1470C>T (p.Val490=)	MIB1	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 7 +2 more	GLikely benign
Select item 384817	NM_020774.4(MIB1):c.1479+18A>G	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7 +2 more	GBenign
Select item 1187854	NM_020774.4(MIB1):c.1479+316A>G	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2