84665[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 515937	NM_032578.4(MYPN):c.-49G>A	MYPN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 138420	NM_032578.4(MYPN):c.-2+9C>T	MYPN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1684054	NM_032578.4(MYPN):c.-2+4269T>C	MYPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240558	NM_032578.4(MYPN):c.-2+4356G>A	MYPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193134	NM_032578.4(MYPN):c.-2+4407G>C	MYPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291626	NM_032578.4(MYPN):c.-2+4638dup	MYPN	Duplication (intron variant)	not provided	GBenign
Select item 1190956	NM_032578.4(MYPN):c.-2+4637_-2+4638dup	MYPN	Duplication (intron variant)	not provided	GLikely benign
Select item 1215748	NM_032578.4(MYPN):c.-2+4728C>A	MYPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241484	NM_032578.4(MYPN):c.-1-150A>T	MYPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280430	NM_032578.4(MYPN):c.-1-113C>T	MYPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268364	NM_032578.4(MYPN):c.-1-92A>T	MYPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268670	NM_032578.4(MYPN):c.-1-44C>T	MYPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 639382	NC_000010.10:g.(?_69881176)_(69905303_?)dup	MYPN	Duplication	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2672397	NM_032578.4(MYPN):c.2T>C (p.Met1Thr)	MYPN (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 544040	NM_032578.4(MYPN):c.13A>C (p.Ser5Arg)	MYPN (S5R)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 646574	NM_032578.4(MYPN):c.17T>C (p.Ile6Thr)	MYPN (I6T)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1470941	NM_032578.4(MYPN):c.21A>C (p.Glu7Asp)	MYPN (E7D)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1477999	NM_032578.4(MYPN):c.22G>A (p.Ala8Thr)	MYPN (A8T)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1348029	NM_032578.4(MYPN):c.22G>C (p.Ala8Pro)	MYPN (A8P)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1790708	NM_032578.4(MYPN):c.23C>T (p.Ala8Val)	MYPN (A8V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1446990	NM_032578.4(MYPN):c.34A>G (p.Ile12Val)	MYPN (I12V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 222747	NM_032578.4(MYPN):c.35T>C (p.Ile12Thr)	MYPN (I12T)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1359484	NM_032578.4(MYPN):c.38C>G (p.Ser13Cys)	MYPN (S13C)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 515086	NM_032578.4(MYPN):c.39T>C (p.Ser13=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 976553	NM_032578.4(MYPN):c.42G>A (p.Gln14=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 544041	NM_032578.4(MYPN):c.47T>C (p.Leu16Pro)	MYPN (L16P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	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 1745341	NM_032578.4(MYPN):c.50G>A (p.Arg17Lys)	MYPN (R17K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
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 1358133	NM_032578.4(MYPN):c.56G>A (p.Ser19Asn)	MYPN (S19N)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 31811	NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)	MYPN (Y20C)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 229037	NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)	MYPN (A22G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1755511	NM_032578.4(MYPN):c.67G>A (p.Glu23Lys)	MYPN (E23K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 573795	NM_032578.4(MYPN):c.69A>C (p.Glu23Asp)	MYPN (E23D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1509601	NM_032578.4(MYPN):c.71C>A (p.Thr24Asn)	MYPN (T24N)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1936843	NM_032578.4(MYPN):c.72C>T (p.Thr24=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2917215	NM_032578.4(MYPN):c.78T>C (p.His26=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 859329	NM_032578.4(MYPN):c.79C>G (p.Arg27Gly)	MYPN (R27G)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 229040	NM_032578.4(MYPN):c.80G>C (p.Arg27Pro)	MYPN (R27P)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1762417	NM_032578.4(MYPN):c.81G>A (p.Arg27=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 1624398	NM_032578.4(MYPN):c.84A>C (p.Gly28=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 3044222	NM_032578.4(MYPN):c.87C>T (p.Asn29=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	MYPN-related disorder	GLikely benign
Select item 1766860	NM_032578.4(MYPN):c.94_95del (p.Arg32fs)	MYPN (R32fs)	Microsatellite (frameshift variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3228183	NM_032578.4(MYPN):c.95G>C (p.Arg32Thr)	MYPN (R32T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1971390	NM_032578.4(MYPN):c.99T>C (p.Ser33=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 3169362	NM_032578.4(MYPN):c.100C>G (p.Arg34Gly)	MYPN (R34G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2768460	NM_032578.4(MYPN):c.100C>A (p.Arg34=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 180450	NM_032578.4(MYPN):c.101G>A (p.Arg34Gln)	MYPN (R34Q)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 578099	NM_032578.4(MYPN):c.103G>T (p.Ala35Ser)	MYPN (A35S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2159467	NM_032578.4(MYPN):c.104C>T (p.Ala35Val)	MYPN (A35V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2063464	NM_032578.4(MYPN):c.105G>C (p.Ala35=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 725362	NM_032578.4(MYPN):c.105G>A (p.Ala35=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 1202867	NM_032578.4(MYPN):c.106G>C (p.Glu36Gln)	MYPN (E36Q)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 2497229	NM_032578.4(MYPN):c.108del (p.Glu36fs)	MYPN (E36fs)	Deletion (frameshift variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 684860	NM_032578.4(MYPN):c.109C>T (p.Pro37Ser)	MYPN (P37S)	Single nucleotide variant (missense variant +2 more)	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 201867	NM_032578.4(MYPN):c.112T>A (p.Ser38Thr)	MYPN (S38T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1395205	NM_032578.4(MYPN):c.113C>T (p.Ser38Phe)	MYPN (S38F)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2449125	NM_032578.4(MYPN):c.118A>G (p.Asn40Asp)	MYPN (N40D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1055948	NM_032578.4(MYPN):c.119A>T (p.Asn40Ile)	MYPN (N40I)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1749755	NM_032578.4(MYPN):c.120C>G (p.Asn40Lys)	MYPN (N40K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1338971	NM_032578.4(MYPN):c.121C>A (p.Pro41Thr)	MYPN (P41T)	Single nucleotide variant (missense variant +2 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 519049	NM_032578.4(MYPN):c.121C>T (p.Pro41Ser)	MYPN (P41S)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 1484857	NM_032578.4(MYPN):c.128A>G (p.His43Arg)	MYPN (H43R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1482083	NM_032578.4(MYPN):c.132C>A (p.Phe44Leu)	MYPN (F44L)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1404774	NM_032578.4(MYPN):c.133G>C (p.Gly45Arg)	MYPN (G45R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 544032	NM_032578.4(MYPN):c.133G>A (p.Gly45Ser)	MYPN (G45S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3298127	NM_032578.4(MYPN):c.137G>C (p.Ser46Thr)	MYPN (S46T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1089180	NM_032578.4(MYPN):c.138T>C (p.Ser46=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 3228154	NM_032578.4(MYPN):c.140C>A (p.Pro47His)	MYPN (P47H)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 838317	NM_032578.4(MYPN):c.140C>G (p.Pro47Arg)	MYPN (P47R)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 647683	NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)	MYPN (P47L)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1772919	NM_032578.4(MYPN):c.144T>C (p.Ser48=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3298145	NM_032578.4(MYPN):c.146G>A (p.Gly49Glu)	MYPN (G49E)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1773949	NM_032578.4(MYPN):c.149C>A (p.Ala50Asp)	MYPN (A50D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2123519	NM_032578.4(MYPN):c.151G>A (p.Ala51Thr)	MYPN (A51T)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 845956	NM_032578.4(MYPN):c.154G>A (p.Glu52Lys)	MYPN (E52K)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2165385	NM_032578.4(MYPN):c.158G>A (p.Gly53Glu)	MYPN (G53E)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1775890	NM_032578.4(MYPN):c.158G>T (p.Gly53Val)	MYPN (G53V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1898917	NM_032578.4(MYPN):c.161G>C (p.Gly54Ala)	MYPN (G54A)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 946233	NM_032578.4(MYPN):c.163G>A (p.Gly55Arg)	MYPN (G55R)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 2075212	NM_032578.4(MYPN):c.172G>A (p.Asp58Asn)	MYPN (D58N)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 191746	NM_032578.4(MYPN):c.185A>C (p.Asp62Ala)	MYPN (D62A)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1616273	NM_032578.4(MYPN):c.186T>C (p.Asp62=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 1531125	NM_032578.4(MYPN):c.189T>C (p.Leu63=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 1496747	NM_032578.4(MYPN):c.194C>A (p.Ala65Asp)	MYPN (A65D)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	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 2976998	NM_032578.4(MYPN):c.195C>T (p.Ala65=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 1962433	NM_032578.4(MYPN):c.195C>A (p.Ala65=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 2003749	NM_032578.4(MYPN):c.204C>G (p.Ser68Arg)	MYPN (S68R)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 1658503	NM_032578.4(MYPN):c.204C>T (p.Ser68=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign
Select item 1005533	NM_032578.4(MYPN):c.207A>G (p.Gln69=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK +1 more	GConflicting classifications of pathogenicity
Select item 1941324	NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)	MYPN (E71*)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1KK	GPathogenic
Select item 1481062	NM_032578.4(MYPN):c.212A>G (p.Glu71Gly)	MYPN (E71G)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
Select item 1609906	NM_032578.4(MYPN):c.216A>G (p.Leu72=)	MYPN	Single nucleotide variant (5 prime UTR variant +2 more)	Dilated cardiomyopathy 1KK	GLikely benign

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