"Illumina Laboratory Services, Illumina"[submitter] AND "MHRT"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312891	NM_000257.4(MYH7):c.5208G>C (p.Gln1736His)	LOC126861897, MHRT +1 more (Q1736H)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +5 more	GUncertain significance
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 883335	NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly)	LOC126861897, MHRT +1 more (E1696G)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +3 more	GUncertain significance
Select item 312892	NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)	LOC126861897, MHRT +1 more (R1676W)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +9 more	GUncertain significance
Select item 143215	NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro)	LOC126861897, MHRT +1 more (R1662P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-Related Disorders +1 more	GUncertain significance
Select item 880973	NM_000257.4(MYH7):c.4953+6C>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Myosin storage myopathy +3 more	GUncertain significance
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)	Dilated Cardiomyopathy, Dominant +8 more	GConflicting classifications of pathogenicity
Select item 882333	NM_000257.4(MYH7):c.4872G>A (p.Glu1624=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +5 more	GConflicting classifications of pathogenicity
Select item 312894	NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys)	LOC126861897, MHRT +1 more (E1610K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +6 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)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 177945	NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)	LOC126861897, MHRT +1 more (R1606C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +9 more	GUncertain significance
Select item 43037	NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +13 more	GBenign/Likely benign
Select item 43032	NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 312895	NM_000257.4(MYH7):c.4659C>T (p.His1553=)	LOC126861897, MHRT +1 more	Single nucleotide variant (synonymous variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 43027	NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 178081	NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 43024	NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)	MHRT, MYH7 (I1509L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +6 more	GConflicting classifications of pathogenicity
Select item 844446	NM_000257.4(MYH7):c.4519+6C>T	MHRT, MYH7	Single nucleotide variant (intron variant)	Myosin storage myopathy +5 more	GConflicting classifications of pathogenicity
Select item 43020	NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	MHRT, MYH7 (S1491C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 312896	NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 881069	NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +6 more	GConflicting classifications of pathogenicity
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 312897	NM_000257.4(MYH7):c.4372C>T (p.Gln1458Ter)	MHRT, MYH7 (Q1458*)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-Related Disorders	GUncertain significance
Select item 191728	NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)	MHRT, MYH7 (A1441S)	Single nucleotide variant (non-coding transcript variant +1 more)	Left ventricular noncompaction cardiomyopathy +13 more	GUncertain significance
Select item 43007	NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Left ventricular noncompaction cardiomyopathy +10 more	GConflicting classifications of pathogenicity

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Items: 25