"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MYPN"[gene - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 31811	NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)	MYPN (Y20C)	Single nucleotide variant (missense variant +2 more)	MYPN-related myopathy +5 more	GConflicting classifications of pathogenicity
Select item 647683	NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)	MYPN (P47L)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +3 more	GConflicting classifications of pathogenicity
Select item 1005533	NM_032578.4(MYPN):c.207A>G (p.Gln69=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701135	NM_032578.4(MYPN):c.713C>T (p.Ala238Val)	MYPN (A238V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2640523	NM_032578.4(MYPN):c.765C>A (p.Ser255=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 201881	NM_032578.4(MYPN):c.845A>G (p.Glu282Gly)	MYPN (E282G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1060811	NM_032578.4(MYPN):c.987G>A (p.Ala329=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 424342	NM_032578.4(MYPN):c.1013G>A (p.Arg338His)	MYPN (R338H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 2640525	NM_032578.4(MYPN):c.1102_1103delinsAA (p.Gly368Asn)	MYPN (G368N +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2640524	NM_032578.4(MYPN):c.1102G>A (p.Gly368Ser)	MYPN (G368S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 978346	NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)	MYPN (G368D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
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 191749	NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)	MYPN (R377Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 201884	NM_032578.4(MYPN):c.1594G>A (p.Val532Met)	MYPN (V532M +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
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 424947	NM_032578.4(MYPN):c.1875C>G (p.Pro625=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 916387	NM_032578.4(MYPN):c.2298T>C (p.Ser766=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 192126	NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)	MYPN (R955W +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 201871	NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn)	MYPN (I1041N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 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 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 194792	NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related condition +4 more	GBenign/Likely benign
Select item 191758	NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn)	MYPN (I1147N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 806493	NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln)	MYPN (L865Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GUncertain significance
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 263734	NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys)	MYPN (R1218K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 477760	NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 201893	NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)	MYPN (A1265T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 477761	NM_032578.4(MYPN):c.3805C>T (p.His1269Tyr)	MYPN (H1269Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 544029	NM_032578.4(MYPN):c.3815C>T (p.Pro1272Leu)	MYPN (P1272L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 191759	NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)	MYPN (R1278Q +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +4 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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180453	NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)	MYPN (M1305V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 1176873	NM_032578.4(MYPN):c.3921T>C (p.Tyr1307=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic

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Items: 44