"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYPN"[gen - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 573255	NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)	MYPN (P87A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 745772	NM_032578.4(MYPN):c.336T>C (p.Ser112=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	MYPN-related disorder +2 more	GLikely benign
Select item 31801	NM_032578.4(MYPN):c.420T>C (p.Tyr140=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	MYPN-related disorder +2 more	GLikely benign
Select item 3030334	NM_032578.4(MYPN):c.444dup (p.Val149fs)	MYPN (V149fs)	Duplication (frameshift variant +2 more)	MYPN-related disorder	GLikely pathogenic
Select item 31825	NM_032578.4(MYPN):c.465C>G (p.Ala155=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	MYPN-related disorder +4 more	GBenign/Likely benign
Select item 1506802	NM_032578.4(MYPN):c.518T>A (p.Ile173Asn)	MYPN (I173N)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2636530	NM_032578.4(MYPN):c.580G>A (p.Glu194Lys)	MYPN (E194K)	Single nucleotide variant (missense variant +2 more)	MYPN-related disorder	GUncertain significance
Select item 382816	NM_032578.4(MYPN):c.660G>A (p.Arg220=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 227722	NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)	MYPN (A245G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GLikely benign
Select item 544047	NM_032578.4(MYPN):c.744A>G (p.Gly248=)	MYPN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3047381	NM_032578.4(MYPN):c.903-6199A>G	MYPN	Single nucleotide variant (intron variant)	MYPN-related disorder	GLikely benign
Select item 1624210	NM_032578.4(MYPN):c.1130+8T>C	MYPN	Single nucleotide variant (intron variant)	MYPN-related disorder +1 more	GLikely benign
Select item 544049	NM_032578.4(MYPN):c.1200A>G (p.Gln400=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 198273	NM_032578.4(MYPN):c.1293C>A (p.Ile431=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 390028	NM_032578.4(MYPN):c.1317+7A>C	MYPN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2630914	NM_032578.4(MYPN):c.1324C>T (p.Gln442Ter)	MYPN (Q148* +1 more)	Single nucleotide variant (nonsense +1 more)	MYPN-related disorder	GLikely pathogenic
Select item 515845	NM_032578.4(MYPN):c.1623C>T (p.Asn541=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +3 more	GLikely benign
Select item 31802	NM_032578.4(MYPN):c.1662A>C (p.Ala554=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +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)	Dilated cardiomyopathy 1KK +3 more	GLikely benign
Select item 192125	NM_032578.4(MYPN):c.1790G>A (p.Arg597His)	MYPN (R597H +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 522313	NM_032578.4(MYPN):c.1899C>T (p.Asn633=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +2 more	GLikely benign
Select item 520319	NM_032578.4(MYPN):c.1900G>A (p.Gly634Arg)	MYPN (G634R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 477743	NM_032578.4(MYPN):c.1944G>A (p.Glu648=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +3 more	GLikely benign
Select item 31807	NM_032578.4(MYPN):c.2190G>A (p.Thr730=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +4 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)	not specified +5 more	GBenign/Likely benign
Select item 2633366	NM_032578.4(MYPN):c.2612T>A (p.Val871Glu)	MYPN (V577E +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related disorder	GUncertain significance
Select item 1366606	NM_032578.4(MYPN):c.2630G>A (p.Arg877His)	MYPN (R583H +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related disorder +2 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)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 840350	NM_032578.4(MYPN):c.3157A>T (p.Arg1053Trp)	MYPN (R759W +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related disorder +2 more	GUncertain significance
Select item 3036337	NM_032578.4(MYPN):c.3165A>G (p.Arg1055=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder	GLikely benign
Select item 2637165	NM_032578.4(MYPN):c.3212dup (p.Arg1072fs)	MYPN (R1072fs +1 more)	Duplication (frameshift variant +1 more)	MYPN-related disorder	GLikely pathogenic
Select item 380661	NM_032578.4(MYPN):c.3228G>T (p.Leu1076=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 389664	NM_032578.4(MYPN):c.3417C>G (p.Arg1139=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +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)	Cardiovascular phenotype +4 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 704859	NM_032578.4(MYPN):c.3441C>T (p.Ile1147=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1731935	NM_032578.4(MYPN):c.3490G>T (p.Val1164Leu)	MYPN (V1164L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1111450	NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1734418	NM_032578.4(MYPN):c.3735G>A (p.Thr1245=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 671639	NM_032578.4(MYPN):c.3963A>G (p.Ter1321=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +3 more	GLikely benign

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Items: 41