ClinVar for MedGen (Select 1384302) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064389	NM_032578.4(MYPN):c.254A>G (p.Tyr85Cys)	MYPN (Y85C)	Single nucleotide variant (missense variant +2 more)	MYPN-related myopathy	GUncertain significance
Select item 2574647	NM_032578.4(MYPN):c.1974-2A>C	MYPN	Single nucleotide variant	MYPN-related myopathy	GPathogenic
Select item 2574646	NM_032578.4(MYPN):c.1973+1G>C	MYPN	Single nucleotide variant	MYPN-related myopathy	GPathogenic
Select item 2500062	NM_032578.4(MYPN):c.3158+6G>T	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +1 more	GUncertain significance
Select item 2430371	NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)	MYPN (G1127V +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy	GUncertain significance
Select item 1804878	NM_032578.4(MYPN):c.55_56del (p.Ser19fs)	MYPN (S19fs)	Microsatellite (frameshift variant +2 more)	MYPN-related myopathy	GLikely pathogenic
Select item 1788349	NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)	MYPN (S749T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1677710	NM_032578.4(MYPN):c.805C>A (p.Pro269Thr)	MYPN (P269T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1677466	NM_032578.4(MYPN):c.844G>A (p.Glu282Lys)	MYPN (E282K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1592499	NM_032578.4(MYPN):c.3159-19A>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 1521934	NM_032578.4(MYPN):c.746A>T (p.Asp249Val)	MYPN (D249V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1504702	NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys)	MYPN (S868C +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1502822	NM_032578.4(MYPN):c.895C>A (p.Gln299Lys)	MYPN (Q299K)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1446870	NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg)	MYPN (P185R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1412339	NM_032578.4(MYPN):c.373C>G (p.Pro125Ala)	MYPN (P125A)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1391743	NM_032578.4(MYPN):c.826C>G (p.Arg276Gly)	MYPN (R276G)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1374405	NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys)	MYPN (R597C +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1374283	NM_032578.4(MYPN):c.1716A>C (p.Gln572His)	MYPN (Q572H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1368967	NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp)	MYPN (E210D +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1364909	NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg)	MYPN (G833R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1353829	NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr)	MYPN (A699T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1349823	NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln)	MYPN (P604Q +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +1 more	GUncertain significance
Select item 1312356	NM_032578.4(MYPN):c.325C>T (p.Pro109Ser)	MYPN (P109S)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1310752	NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile)	MYPN (M1275I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1291306	NM_032578.4(MYPN):c.2704-13G>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +2 more	GBenign/Likely benign
Select item 1284855	NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln)	MYPN (P449Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1284076	NM_032578.4(MYPN):c.2565-21A>G	MYPN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1058862	NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly)	MYPN (D1208G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1054131	NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe)	MYPN (L190F +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +2 more	GUncertain significance
Select item 1047446	NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu)	MYPN (S1014L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1026210	NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly)	MYPN (S297G +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1019325	NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)	MYPN (L308P +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +3 more	GUncertain significance
Select item 979033	NM_032578.4(MYPN):c.308A>T (p.Asp103Val)	MYPN (D103V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 964480	NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg)	MYPN (G1153R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 950524	NM_032578.4(MYPN):c.1130+3A>C	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +2 more	GUncertain significance
Select item 947306	NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn)	MYPN (S418N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 942308	NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)	MYPN (T752P +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +3 more	GUncertain significance
Select item 863004	NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)	MYPN (R1091W +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 856304	NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser)	MYPN (A1148S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 851819	NM_032578.4(MYPN):c.295C>T (p.Arg99Ter)	MYPN (R99*)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 849578	NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr)	MYPN (S774Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 842785	NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys)	MYPN (S390C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 841095	NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)	MYPN (G1253fs +1 more)	Insertion (frameshift variant +1 more)	MYPN-related myopathy +1 more	GUncertain significance
Select item 838626	NM_032578.4(MYPN):c.217G>C (p.Asp73His)	MYPN (D73H)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 838158	NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys)	MYPN (R1088C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 806491	NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu)	MYPN (P651L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 719743	NM_032578.4(MYPN):c.2742T>C (p.Asn914=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 705399	NM_032578.4(MYPN):c.3006C>T (p.Cys1002=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 704859	NM_032578.4(MYPN):c.3441C>T (p.Ile1147=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GLikely benign
Select item 700775	NM_032578.4(MYPN):c.2565-7C>T	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 691657	NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)	MYPN (R1216G +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 671151	NM_032578.4(MYPN):c.3286-28G>T	MYPN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 659807	NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)	MYPN (G847V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +5 more	GConflicting classifications of pathogenicity
Select item 655496	NM_032578.4(MYPN):c.3848G>A (p.Arg1283His)	MYPN (R1283H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 654406	NM_032578.4(MYPN):c.601G>A (p.Asp201Asn)	MYPN (D201N)	Single nucleotide variant (missense variant +2 more)	MYPN-related myopathy +1 more	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
Select item 581056	NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)	MYPN (P835T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 580167	NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe)	MYPN (S1300F +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +3 more	GUncertain significance
Select item 577970	NM_032578.4(MYPN):c.271G>A (p.Ala91Thr)	MYPN (A91T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 573255	NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)	MYPN (P87A)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +4 more	GUncertain significance
Select item 572878	NM_032578.4(MYPN):c.3661A>G (p.Met1221Val)	MYPN (M1221V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 568155	NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp)	MYPN (R822W +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 567095	NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg)	MYPN (G1054R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 566151	NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)	MYPN (F506L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 544044	NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)	MYPN (P1273L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 544043	NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr)	MYPN (P1101T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 544031	NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln)	MYPN (R1091Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 544030	NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)	MYPN (R489Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 544027	NM_032578.4(MYPN):c.194C>T (p.Ala65Val)	MYPN (A65V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 522312	NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)	MYPN (N84S)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 518978	NM_032578.4(MYPN):c.712G>A (p.Ala238Thr)	MYPN (A238T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 518494	NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn)	LOC132089829, MYPN (D1014N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 517602	NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)	MYPN (N586S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 477754	NM_032578.4(MYPN):c.3065C>G (p.Ala1022Gly)	LOC132089829, MYPN (A1022G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 477753	NM_032578.4(MYPN):c.2926G>T (p.Val976Phe)	MYPN (V976F +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 477742	NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro)	MYPN (Q559P +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 477738	NM_032578.4(MYPN):c.1306G>A (p.Val436Met)	MYPN (V436M +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 477737	NM_032578.4(MYPN):c.1236C>A (p.Thr412=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 431886	NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)	MYPN (M1035V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +4 more	GConflicting classifications of pathogenicity
Select item 430248	NM_032578.4(MYPN):c.2435T>C (p.Val812Ala)	MYPN (V812A +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +2 more	GUncertain significance
Select item 417954	NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)	MYPN (R1057Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 392991	NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)	MYPN (R919L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 379323	NM_032578.4(MYPN):c.2925+20A>C	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 379260	NM_032578.4(MYPN):c.890C>T (p.Pro297Leu)	MYPN (P297L)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 378226	NM_032578.4(MYPN):c.3456C>T (p.Thr1152=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 375568	NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)	MYPN (R1072* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 375567	NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)	MYPN (R1057* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GUncertain significance
Select item 375566	NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter)	MYPN (R377* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GPathogenic
Select item 375565	NM_032578.4(MYPN):c.3076-2A>C	MYPN	Single nucleotide variant (splice acceptor variant)	MYPN-related myopathy	GPathogenic
Select item 375564	NM_032578.4(MYPN):c.2003del (p.Asn668fs)	MYPN (N374fs +1 more)	Deletion (frameshift variant +1 more)	MYPN-related myopathy	GPathogenic
Select item 229028	NM_032578.4(MYPN):c.54G>C (p.Glu18Asp)	MYPN (E18D)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 227714	NM_032578.4(MYPN):c.1460-14T>A	MYPN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 222748	NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)	MYPN (G253R)	Single nucleotide variant (missense variant +2 more)	Left ventricular noncompaction cardiomyopathy +4 more	GUncertain significance
Select item 220980	NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)	MYPN (I1006S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 201893	NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)	MYPN (A1265T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 201890	NM_032578.4(MYPN):c.3206G>A (p.Arg1069His)	MYPN (R1069H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 201889	NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln)	MYPN (R1044Q +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related disorder +4 more	GUncertain significance
Select item 201885	NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys)	MYPN (E630K +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +2 more	GUncertain significance
Select item 201882	NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)	MYPN (R338C +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +3 more	GUncertain significance

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