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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42279	NM_000117.3(EMD):c.83-13C>G	EMD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 381494	NM_000117.3(EMD):c.108G>A (p.Lys36=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GLikely benign
Select item 42271	NM_000117.3(EMD):c.144C>T (p.Leu48=)	EMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1187046	NM_000117.3(EMD):c.188-12C>T	EMD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 755785	NM_000117.3(EMD):c.234G>A (p.Lys78=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 42273	NM_000117.3(EMD):c.396C>T (p.His132=)	EMD	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 137207	NM_000117.3(EMD):c.399+18C>T	EMD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 237014	NM_000117.3(EMD):c.445G>C (p.Asp149His)	EMD (D149H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 198043	NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	EMD (R152C)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 42274	NM_000117.3(EMD):c.465C>T (p.Tyr155=)	EMD	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +3 more	GBenign
Select item 290157	NM_000117.3(EMD):c.466G>C (p.Gly156Arg)	EMD (G156R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42276	NM_000117.3(EMD):c.495G>A (p.Thr165=)	EMD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 285047	NM_000117.3(EMD):c.525C>T (p.Ser175=)	EMD	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1174708	NM_000117.3(EMD):c.603C>T (p.Leu201=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign