"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GPathogenic FDA Recognized database
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 255631	NM_000257.4(MYH7):c.4953+17G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 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 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 43035	NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
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 178080	NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
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 626812	NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly)	MHRT, MYH7 (E1514G)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 188636	NM_000257.4(MYH7):c.4520-25C>T	MHRT, MYH7	Single nucleotide variant (intron variant)	Myosin storage myopathy +8 more	GBenign/Likely benign
Select item 43022	NM_000257.4(MYH7):c.4515G>T (p.Leu1505=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 43019	NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 188634	NM_000257.4(MYH7):c.4353+17G>A	MHRT, MYH7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 43010	NM_000257.4(MYH7):c.4353+10G>A	MHRT, MYH7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1284819	NM_000257.4(MYH7):c.4327G>A (p.Asp1443Asn)	MHRT, MYH7 (D1443N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164289	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	MHRT, MYH7 (L1428S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database