ClinVar for MedGen (Select 1720295) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366307	NM_000117.3(EMD):c.178del (p.Ser60fs)	EMD (S60fs)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 1, X-linked	GPathogenic
Select item 3362547	NM_000117.3(EMD):c.274GAC[1] (p.Asp93del)	EMD (D93del)	Microsatellite	Emery-Dreifuss muscular dystrophy 1, X-linked	GUncertain significance
Select item 3254765	NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)	EMD	Deletion (nonsense)	Emery-Dreifuss muscular dystrophy 1, X-linked	GPathogenic
Select item 3241393	NM_000117.3(EMD):c.450-1G>A	EMD	Single nucleotide variant (splice acceptor variant)	Emery-Dreifuss muscular dystrophy 1, X-linked	GLikely pathogenic
Select item 3234967	NM_000117.3(EMD):c.512C>G (p.Ser171Ter)	EMD (S171*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 1, X-linked	GPathogenic
Select item 3069158	NM_000117.3(EMD):c.662_663insT (p.Gln222fs)	EMD (Q222fs)	Insertion (frameshift variant)	Emery-Dreifuss muscular dystrophy 1, X-linked	GLikely pathogenic
Select item 2675026	NM_000117.3(EMD):c.161C>T (p.Ser54Phe)	EMD (S54F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked	GLikely pathogenic
Select item 2627908	NM_000117.3(EMD):c.441C>A (p.Cys147Ter)	EMD (C147*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 1, X-linked	GLikely pathogenic
Select item 2584927	NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)	EMD (Y94*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 1, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 2441221	NM_000117.3(EMD):c.82+3A>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2441220	NM_000117.3(EMD):c.524G>A (p.Ser175Asn)	EMD (S175N)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2441219	NM_000117.3(EMD):c.455G>A (p.Arg152His)	EMD (R152H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked	GUncertain significance
Select item 2441218	NM_000117.3(EMD):c.553T>C (p.Ser185Pro)	EMD (S185P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +1 more	GUncertain significance
Select item 2081204	NM_000117.3(EMD):c.321G>T (p.Glu107Asp)	EMD (E107D)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2032371	NM_000117.3(EMD):c.674del (p.Leu225fs)	EMD (L225fs)	Deletion (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1563917	NM_000117.3(EMD):c.403C>T (p.His135Tyr)	EMD (H135Y)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 1495732	NM_000117.3(EMD):c.422C>T (p.Ser141Phe)	EMD (S141F)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 1405347	NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	EMD (Y167C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1066332	NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	EMD (K37del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 585847	NM_000117.3(EMD):c.116_143del (p.Phe39fs)	EMD (F39fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 444835	NM_000117.3(EMD):c.400G>A (p.Val134Met)	EMD (V134M)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GUncertain significance
Select item 289486	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD (L84fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 286452	NM_000117.3(EMD):c.610C>G (p.Arg204Gly)	EMD (R204G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 280697	NM_000117.3(EMD):c.60del (p.Asn20fs)	EMD (N20fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 201780	NM_000117.3(EMD):c.103G>A (p.Glu35Lys)	EMD (E35K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201777	NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	EMD (P224L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 201776	NM_000117.3(EMD):c.610C>T (p.Arg204Cys)	EMD (R204C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198043	NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	EMD (R152C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 179659	NM_000117.3(EMD):c.77T>C (p.Val26Ala)	EMD (V26A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 92441	NM_000117.3(EMD):c.450-2A>G	EMD	Single nucleotide variant (splice acceptor variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 42277	NM_000117.3(EMD):c.571A>G (p.Met191Val)	EMD (M191V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 42274	NM_000117.3(EMD):c.465C>T (p.Tyr155=)	EMD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 36030	NM_000117.3(EMD):c.470G>A (p.Arg157Gln)	EMD (R157Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 33