"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 803786	NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)	DMD (Q2133* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2500930	NM_004006.3(DMD):c.8555dup (p.Arg2853fs)	DMD (R124fs +7 more)	Duplication (frameshift variant)	Duchenne and Becker muscular dystrophy	GLikely pathogenic
Select item 2579216	GRCh38/hg38 Xp21.1(chrX:31601428-31727780)x0	DMD	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 2579215	GRCh38/hg38 Xp21.1(chrX:31782226-32088001)x0	DMD, LOC129391296	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 502009	NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)	DMD (Q2387* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 2579259	GRCh38/hg38 Xp21.1(chrX:31929309-31932391)x1	DMD	Copy number loss	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2440850	NM_004006.3(DMD):c.6438+88106A>G	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2579257	GRCh38/hg38 Xp21.1(chrX:32216792-33041819)x0	DMD, MIR3915 +1 more	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 197412	NM_004006.3(DMD):c.5697del (p.Lys1899fs)	DMD (K1891fs +5 more)	Deletion (frameshift variant)	Duchenne and Becker muscular dystrophy +2 more	GPathogenic
Select item 499610	NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)	DMD (Q1803* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1698714	Single allele	DMD	Deletion	Duchenne muscular dystrophy	GUncertain significance
Select item 455893	NM_004006.3(DMD):c.3432+2036A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2579217	GRCh38/hg38 Xp21.1(chrX:32536377-32771300)x0	DMD, MIR3915 +1 more	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 814013	Single allele	DMD	Deletion	Duchenne muscular dystrophy	GLikely pathogenic