MYBPC1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 343

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
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)	not provided +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 306706	NM_002465.4(MYBPC1):c.-13T>C	MYBPC1	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 2339561	NM_002465.4(MYBPC1):c.10C>G (p.Pro4Ala)	MYBPC1 (P4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 306707	NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)	MYBPC1 (K6M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B +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)	not specified +2 more	GBenign/Likely benign
Select item 816808	NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly)	MYBPC1 (E11G)	Single nucleotide variant (missense variant +1 more)	Lethal congenital contracture syndrome 4	GUncertain significance
Select item 306714	NM_002465.4(MYBPC1):c.51_56del (p.Pro18_Pro19del)	MYBPC1	Deletion (inframe_deletion +1 more)	Distal arthrogryposis	GUncertain significance
Select item 2689476	NM_002465.4(MYBPC1):c.59A>C (p.Glu20Ala)	MYBPC1 (E20A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 723202	NM_002465.4(MYBPC1):c.84C>T (p.Ala28=)	MYBPC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 435907	NM_002465.4(MYBPC1):c.103+5G>T	MYBPC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 884160	NM_002465.4(MYBPC1):c.104-10C>A	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 1180783	NM_002465.4(MYBPC1):c.122del (p.Pro41fs)	MYBPC1 (P15fs +1 more)	Deletion (frameshift variant +1 more)	Abnormality of the musculature	GLikely pathogenic
Select item 306717	NM_002465.4(MYBPC1):c.122C>T (p.Pro41Leu)	MYBPC1 (P41L +1 more)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis	GLikely benign
Select item 211543	NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)	MYBPC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884161	NM_002465.4(MYBPC1):c.142+10A>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GUncertain significance
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 2689473	NM_002465.4(MYBPC1):c.143G>T (p.Gly48Val)	MYBPC1 (G48V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689472	NM_002465.4(MYBPC1):c.154C>T (p.Arg52Trp)	MYBPC1 (R52W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2391274	NM_002465.4(MYBPC1):c.155G>A (p.Arg52Gln)	MYBPC1 (R52Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 306718	NM_002465.4(MYBPC1):c.178+7G>A	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely 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 258660	NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala)	MYBPC1 (V64A +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 306719	NM_002465.4(MYBPC1):c.192C>T (p.Val64=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely benign
Select item 2433861	NM_002465.4(MYBPC1):c.217G>A (p.Ala73Thr)	MYBPC1 (A22T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433856	NM_002465.4(MYBPC1):c.272G>A (p.Gly91Glu)	MYBPC1 (G40E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506280	NM_002465.4(MYBPC1):c.283A>G (p.Lys95Glu)	MYBPC1 (K44E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1228372	NM_002465.4(MYBPC1):c.288del (p.Gly97fs)	MYBPC1 (G46fs +4 more)	Deletion (frameshift variant)	Arthrogryposis, distal, type 1B	GUncertain significance
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 880877	NM_002465.4(MYBPC1):c.290-10C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306720	NM_002465.4(MYBPC1):c.309A>T (p.Ile103=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 2351997	NM_002465.4(MYBPC1):c.314A>C (p.Lys105Thr)	MYBPC1 (K54T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433860	NM_002465.4(MYBPC1):c.377delinsGG (p.Asp126fs)	MYBPC1 (D101fs +4 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 258664	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +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)	Arthrogryposis, distal, type 1B +3 more	GUncertain significance
Select item 306721	NM_002465.4(MYBPC1):c.438+9C>G	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +1 more	GBenign
Select item 1254329	NM_002465.4(MYBPC1):c.439-143G>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689471	NM_002465.4(MYBPC1):c.439G>A (p.Val147Met)	MYBPC1 (V109M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557338	NM_002465.4(MYBPC1):c.467A>G (p.Lys156Arg)	MYBPC1 (K131R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2620788	NM_002465.4(MYBPC1):c.485C>T (p.Ala162Val)	MYBPC1 (A137V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491334	NM_002465.4(MYBPC1):c.517G>A (p.Asp173Asn)	MYBPC1 (D136N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722202	NM_002465.4(MYBPC1):c.524T>C (p.Phe175Ser)	MYBPC1 (F138S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2295367	NM_002465.4(MYBPC1):c.529A>T (p.Ser177Cys)	MYBPC1 (S140C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 306724	NM_002465.4(MYBPC1):c.557-10C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely benign
Select item 211545	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	MYBPC1	Single nucleotide variant (synonymous variant)	MYBPC1-related condition +5 more	GBenign/Likely benign
Select item 3048611	NM_002465.4(MYBPC1):c.608+6T>C	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related condition	GLikely benign
Select item 211546	NM_002465.4(MYBPC1):c.608+9A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 306725	NM_002465.4(MYBPC1):c.608+14A>G	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +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 2689470	NM_002465.4(MYBPC1):c.611G>C (p.Gly204Ala)	MYBPC1 (G153A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 763651	NM_002465.4(MYBPC1):c.665+8C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 734915	NM_002465.4(MYBPC1):c.665+8C>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734929	NM_002465.4(MYBPC1):c.665+9A>C	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 2643237	NM_002465.4(MYBPC1):c.666-6G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 306727	NM_002465.4(MYBPC1):c.675G>A (p.Lys225=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 29800	NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg)	MYBPC1 (W236R +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GPathogenic
Select item 2312254	NM_002465.4(MYBPC1):c.708G>T (p.Trp236Cys)	MYBPC1 (W185C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689419	NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His)	MYBPC1 (Y247H +6 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with tremor	GPathogenic
Select item 2509619	NM_002465.4(MYBPC1):c.742G>C (p.Glu248Gln)	MYBPC1 (E178Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225889	NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	MYBPC1 (E223K +6 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 306728	NM_002465.4(MYBPC1):c.750C>A (p.Ile250=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 730870	NM_002465.4(MYBPC1):c.759G>A (p.Gln253=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	Myopathy, congenital, with tremor +2 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 4