"GeneDx"[submitter] AND "MYBPC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1296793	NC_000012.12:g.101594747C>T	MYBPC1	Single nucleotide variant	not provided	GBenign
Select item 306703	NM_002465.4(MYBPC1):c.-93C>T	MYBPC1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 306704	NM_002465.4(MYBPC1):c.-75G>T	MYBPC1	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1B +1 more	GBenign
Select item 306705	NM_002465.4(MYBPC1):c.-46C>T	MYBPC1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1205773	NM_002465.4(MYBPC1):c.25+49T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212014	NM_002465.4(MYBPC1):c.25+127C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203760	NM_002465.4(MYBPC1):c.26-192A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311046	NM_002465.4(MYBPC1):c.26-172_26-171insAG	MYBPC1	Insertion (intron variant)	not provided	GLikely benign
Select item 1228902	NM_002465.4(MYBPC1):c.26-171_26-166del	MYBPC1	Deletion (intron variant)	not provided	GBenign
Select item 1253396	NM_002465.4(MYBPC1):c.26-171T>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278156	NM_002465.4(MYBPC1):c.26-57del	MYBPC1	Deletion (intron variant)	not provided	GBenign
Select item 258662	NM_002465.4(MYBPC1):c.26-9C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +2 more	GBenign/Likely benign
Select item 1189068	NM_002465.4(MYBPC1):c.62-294G>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181203	NM_002465.4(MYBPC1):c.62-240A>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211986	NM_002465.4(MYBPC1):c.62-227G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242770	NM_002465.4(MYBPC1):c.62-165T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301207	NM_002465.4(MYBPC1):c.103+17G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196728	NM_002465.4(MYBPC1):c.103+242C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216100	NM_002465.4(MYBPC1):c.103+296G>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179982	NM_002465.4(MYBPC1):c.104-204T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272222	NM_002465.4(MYBPC1):c.104-162A>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193870	NM_002465.4(MYBPC1):c.104-61C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 211543	NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)	MYBPC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1243606	NM_002465.4(MYBPC1):c.142+122G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178500	NM_002465.4(MYBPC1):c.143-87del	MYBPC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1191231	NM_002465.4(MYBPC1):c.179-328T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254245	NM_002465.4(MYBPC1):c.179-112G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258659	NM_002465.4(MYBPC1):c.179-20_179-12del	MYBPC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1248686	NM_002465.4(MYBPC1):c.289+70del	MYBPC1	Deletion (intron variant)	not provided	GBenign
Select item 1258561	NM_002465.4(MYBPC1):c.289+73_289+88del	MYBPC1	Deletion (intron variant)	not provided	GBenign
Select item 1287529	NM_002465.4(MYBPC1):c.289+83C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197446	NM_002465.4(MYBPC1):c.289+260C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202264	NM_002465.4(MYBPC1):c.289+342del	MYBPC1	Deletion (intron variant)	not provided	GLikely benign
Select item 258664	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B +2 more	GBenign/Likely benign
Select item 1211435	NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln)	MYBPC1 (R108Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1254329	NM_002465.4(MYBPC1):c.439-143G>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310720	NM_002465.4(MYBPC1):c.476A>G (p.Asp159Gly)	MYBPC1 (D108G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306722	NM_002465.4(MYBPC1):c.556+9G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129646	NM_002465.4(MYBPC1):c.556+10C>G	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1226142	NM_002465.4(MYBPC1):c.556+148T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199688	NM_002465.4(MYBPC1):c.557-289T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 306725	NM_002465.4(MYBPC1):c.608+14A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1211632	NM_002465.4(MYBPC1):c.608+111T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214890	NM_002465.4(MYBPC1):c.608+211G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215622	NM_002465.4(MYBPC1):c.665+197G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225025	NM_002465.4(MYBPC1):c.666-61C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129647	NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 522829	NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	MYBPC1 (L259P +6 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 635215	NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)	MYBPC1 (L263R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1254657	NM_002465.4(MYBPC1):c.832+105G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267233	NM_002465.4(MYBPC1):c.965+32T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225520	NM_002465.4(MYBPC1):c.965+53A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243253	NM_002465.4(MYBPC1):c.966-314A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253678	NM_002465.4(MYBPC1):c.966-287T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272369	NM_002465.4(MYBPC1):c.966-194G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205793	NM_002465.4(MYBPC1):c.966-143C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235983	NM_002465.4(MYBPC1):c.966-123A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678745	NM_002465.4(MYBPC1):c.1053C>T (p.Ala351=)	LOC105369937, MYBPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254757	NM_002465.4(MYBPC1):c.1090+202A>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282232	NM_002465.4(MYBPC1):c.1090+294T>C	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268086	NM_002465.4(MYBPC1):c.1091-66A>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255077	NM_002465.4(MYBPC1):c.1196+46dup	LOC105369937, MYBPC1	Duplication (intron variant)	not provided	GBenign
Select item 1260185	NM_002465.4(MYBPC1):c.1196+182C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238195	NM_002465.4(MYBPC1):c.1196+285C>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265490	NM_002465.4(MYBPC1):c.1197-231C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189566	NM_002465.4(MYBPC1):c.1197-144C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221401	NM_002465.4(MYBPC1):c.1197-48dup	LOC105369937, MYBPC1	Duplication (intron variant)	not provided	GBenign
Select item 620531	NM_002465.4(MYBPC1):c.1242C>A (p.Tyr414Ter)	LOC105369937, MYBPC1 (Y414* +6 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 421282	NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly)	LOC105369937, MYBPC1 (V418G +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1294478	NM_002465.4(MYBPC1):c.1363+61C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239911	NM_002465.4(MYBPC1):c.1363+97G>A	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235032	NM_002465.4(MYBPC1):c.1363+145T>A	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249342	NM_002465.4(MYBPC1):c.1363+202G>A	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241917	NM_002465.4(MYBPC1):c.1363+247A>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202021	NM_002465.4(MYBPC1):c.1363+297T>C	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279279	NM_002465.4(MYBPC1):c.1364-97C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129641	NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 373399	NM_002465.4(MYBPC1):c.1493A>G (p.Glu498Gly)	MYBPC1 (E498G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129642	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	MYBPC1 (H506Q +6 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1276420	NM_002465.4(MYBPC1):c.1526+60C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254032	NM_002465.4(MYBPC1):c.1526+78G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249613	NM_002465.4(MYBPC1):c.1526+127C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213668	NM_002465.4(MYBPC1):c.1526+204A>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236672	NM_002465.4(MYBPC1):c.1527-285C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265911	NM_002465.4(MYBPC1):c.1527-152CT[11]	MYBPC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1193838	NM_002465.4(MYBPC1):c.1527-152CT[12]	MYBPC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1235219	NM_002465.4(MYBPC1):c.1527-152CT[9]	MYBPC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247749	NM_002465.4(MYBPC1):c.1527-62C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187141	NM_002465.4(MYBPC1):c.1527-59G>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277918	NM_002465.4(MYBPC1):c.1633+33T>C	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 1200130	NM_002465.4(MYBPC1):c.1633+34G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222810	NM_002465.4(MYBPC1):c.1633+114T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258658	NM_002465.4(MYBPC1):c.1634-18del	MYBPC1	Deletion (intron variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 2662260	NM_002465.4(MYBPC1):c.1706G>A (p.Arg569His)	MYBPC1 (R499H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286635	NM_002465.4(MYBPC1):c.1767+247dup	MYBPC1	Duplication (intron variant)	not provided	GBenign
Select item 3252187	NM_002465.4(MYBPC1):c.1820del (p.Ser607fs)	MYBPC1 (S537fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1243367	NM_002465.4(MYBPC1):c.1927+66C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215056	NM_002465.4(MYBPC1):c.1927+70C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2499841	NM_002465.4(MYBPC1):c.1927+110_1927+111insTTTTT	MYBPC1	Insertion (intron variant)	not provided	GLikely benign
Select item 2499842	NM_002465.4(MYBPC1):c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT	MYBPC1	Insertion (intron variant)	not provided	GLikely benign

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