C0013264[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982741	NM_004006.3(DMD):c.10102G>T (p.Asp3368Tyr)	DMD (D2024Y +8 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 976328	NM_004006.3(DMD):c.8908T>C (p.Ser2970Pro)	DMD (S1626P +7 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 1707534	NM_004006.3(DMD):c.5587-7T>A	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 975989	NM_004006.3(DMD):c.5530del (p.Arg1844fs)	DMD (R1721fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 94654	NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter)	DMD (Q1712* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 217201	NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)	DMD (Q1711* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1285470	NM_004006.3(DMD):c.4684del (p.Arg1562fs)	DMD (R1439fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 3B +1 more	GPathogenic/Likely pathogenic
Select item 94632	NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)	DMD (K1387R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 2576585	NM_004006.3(DMD):c.4519-7A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GUncertain significance
Select item 2502352	NM_004006.3(DMD):c.4391del (p.Pro1464fs)	DMD (P120fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2576600	NM_004006.3(DMD):c.3793del (p.Trp1265fs)	DMD (W1142fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 982575	NM_004006.3(DMD):c.847G>C (p.Ala283Pro)	DMD (A160P +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GUncertain significance