"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +11 more	GUncertain significance
Select item 755652	NM_000257.4(MYH7):c.5283+7C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 378879	NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 181274	NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)	LOC126861897, MYH7 (E1743D)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GUncertain significance
Select item 626537	NM_000257.4(MYH7):c.5190G>C (p.Met1730Ile)	LOC126861897, MHRT +1 more (M1730I)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 626538	NM_000257.4(MYH7):c.5181G>A (p.Lys1727=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 626539	NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1113729	NM_000257.4(MYH7):c.5163C>T (p.Thr1721=)	MHRT, MYH7 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 626540	NM_000257.4(MYH7):c.5158A>G (p.Asn1720Asp)	LOC126861897, MHRT +1 more (N1720D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 915598	NM_000257.4(MYH7):c.5137G>A (p.Val1713Met)	LOC126861897, MHRT +1 more (V1713M)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenicFDA Recognized database
Select item 43057	NM_000257.4(MYH7):c.5115G>A (p.Glu1705=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 1329415	NM_000257.4(MYH7):c.5089C>G (p.Arg1697Gly)	LOC126861897, MHRT +1 more (R1697G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 222731	NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)	LOC126861897, MHRT +1 more (V1691M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 1329414	NM_000257.4(MYH7):c.5046G>T (p.Gln1682His)	LOC126861897, MHRT +1 more (Q1682H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 181270	NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)	LOC126861897, MHRT +1 more (R1677C)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2442851	NM_000257.4(MYH7):c.5017A>T (p.Ile1673Phe)	LOC126861897, MHRT +1 more (I1673F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 626541	NM_000257.4(MYH7):c.5013C>T (p.Ile1671=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 626542	NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 407198	NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu)	LOC126861897, MHRT +1 more (R1662L)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 43049	NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)	MHRT, MYH7 +1 more (R1662H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 188638	NM_000257.4(MYH7):c.4980A>C (p.Ala1660=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 43047	NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)	LOC126861897, MHRT +1 more (D1652Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 43044	NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)	LOC126861897, MHRT +1 more (A1637T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benignFDA Recognized database
Select item 312893	NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 181269	NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)	LOC126861897, MHRT +1 more (M1635T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
Select item 915599	NM_000257.4(MYH7):c.4890C>T (p.Ser1630=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 181267	NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)	LOC126861897, MHRT +1 more (E1610Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1012345	NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)	LOC126861897, MHRT +1 more (R1608H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 43039	NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)	LOC126861897, MHRT +1 more (R1606H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 43037	NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)	MHRT, LOC126861897 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant +12 more	GBenign/Likely benign
Select item 181265	NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)	LOC126861897, MHRT +1 more (L1591Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
Select item 178079	NM_000257.4(MYH7):c.4725G>A (p.Lys1575=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GLikely benign
Select item 289025	NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 626810	NM_000257.4(MYH7):c.4668C>A (p.Gly1556=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 571204	NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys)	LOC126861897, MHRT +1 more (E1555K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 312895	NM_000257.4(MYH7):c.4659C>T (p.His1553=)	LOC126861897, MHRT +1 more	Single nucleotide variant (synonymous variant)	Myosin storage myopathy +9 more	GConflicting classifications of pathogenicity
Select item 626811	NM_000257.4(MYH7):c.4645-7T>C	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance

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Items: 38