"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522312	NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)	MYPN (N84S)	Single nucleotide variant (missense variant +2 more)	MYPN-related myopathy +3 more	GUncertain significance
Select item 573255	NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)	MYPN (P87A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +5 more	GUncertain significance
Select item 1284716	NM_032578.4(MYPN):c.465C>A (p.Ala155=)	MYPN	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 227722	NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)	MYPN (A245G)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +4 more	GLikely benign
Select item 31826	NM_032578.4(MYPN):c.843A>G (p.Pro281=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign
Select item 1297729	NM_032578.4(MYPN):c.903-18A>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 138413	NM_032578.4(MYPN):c.1079-18T>C	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +3 more	GBenign/Likely benign
Select item 31836	NM_032578.4(MYPN):c.1104C>T (p.Gly368=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 226840	NM_032578.4(MYPN):c.1122G>A (p.Glu374=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 138414	NM_032578.4(MYPN):c.1130+17G>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GBenign
Select item 138415	NM_032578.4(MYPN):c.1134C>T (p.Ile378=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 138416	NM_032578.4(MYPN):c.1245+17G>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GBenign
Select item 138417	NM_032578.4(MYPN):c.1245+20A>G	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +3 more	GBenign/Likely benign
Select item 198273	NM_032578.4(MYPN):c.1293C>A (p.Ile431=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related condition +4 more	GBenign/Likely benign
Select item 31827	NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys)	MYPN (E467K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 241707	NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 945827	NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser)	MYPN (G228S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 522236	NM_032578.4(MYPN):c.1600+21G>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GBenign/Likely benign
Select item 31802	NM_032578.4(MYPN):c.1662A>C (p.Ala554=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 509906	NM_032578.4(MYPN):c.1725A>G (p.Lys575=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 226841	NM_032578.4(MYPN):c.1893G>A (p.Arg631=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 522313	NM_032578.4(MYPN):c.1899C>T (p.Asn633=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 31805	NM_032578.4(MYPN):c.1935C>T (p.Pro645=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 477743	NM_032578.4(MYPN):c.1944G>A (p.Glu648=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related condition +3 more	GLikely benign
Select item 1284855	NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln)	MYPN (P449Q +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +1 more	GUncertain significance
Select item 518040	NM_032578.4(MYPN):c.2229G>A (p.Pro743=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GLikely benign
Select item 201870	NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala)	MYPN (T746A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 31809	NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)	MYPN (G804R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 477751	NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys)	MYPN (R810C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 138418	NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)	MYPN (P816L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1284076	NM_032578.4(MYPN):c.2565-21A>G	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +2 more	GBenign
Select item 227717	NM_032578.4(MYPN):c.2703+13G>A	MYPN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 138419	NM_032578.4(MYPN):c.2703+17T>C	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +2 more	GBenign
Select item 31831	NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)	MYPN (R955Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 227718	NM_032578.4(MYPN):c.2880T>G (p.Ser960=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 138422	NM_032578.4(MYPN):c.2925+9G>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +2 more	GBenign
Select item 389357	NM_032578.4(MYPN):c.3075+20C>T	LOC132089829, MYPN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 671146	NM_032578.4(MYPN):c.3075+21G>A	LOC132089829, MYPN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 155824	NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)	MYPN (R1042C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 138424	NM_032578.4(MYPN):c.3279C>T (p.Asp1093=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 31791	NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)	MYPN (P1112L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 31800	NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)	MYPN (P1135T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 389664	NM_032578.4(MYPN):c.3417C>G (p.Arg1139=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related condition +3 more	GBenign/Likely benign
Select item 192192	NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr)	MYPN (A1141T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 378226	NM_032578.4(MYPN):c.3456C>T (p.Thr1152=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 31819	NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)	MYPN (L1161I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1284526	NM_032578.4(MYPN):c.3493+6G>T	MYPN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 380682	NM_032578.4(MYPN):c.3493+6G>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GConflicting classifications of pathogenicity
Select item 201872	NM_032578.4(MYPN):c.3493+11C>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +2 more	GBenign
Select item 201875	NM_032578.4(MYPN):c.3493+15_3493+20del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK +2 more	GBenign
Select item 1090649	NM_032578.4(MYPN):c.3564C>T (p.Pro1188=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 1285217	NM_032578.4(MYPN):c.3659+8A>G	MYPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1111450	NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related condition +2 more	GLikely benign
Select item 477758	NM_032578.4(MYPN):c.3720C>T (p.Asp1240=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 664509	NM_032578.4(MYPN):c.3721G>A (p.Ala1241Thr)	MYPN (A1241T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 582566	NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)	MYPN (G1285R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance

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Items: 56