C0026850[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321153	NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter)	DYSF, LOC122787137 (Q1279* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 2502883	NM_000426.4(LAMA2):c.2755C>G (p.Arg919Gly)	LAMA2 (R919G)	Single nucleotide variant (missense variant)	Muscular dystrophy	GUncertain significance
Select item 1703878	NM_000152.5(GAA):c.1755-4C>T	GAA	Single nucleotide variant (intron variant)	Muscular dystrophy	GUncertain significance
Select item 1679538	NM_015295.3(SMCHD1):c.4702G>C (p.Gly1568Arg)	SMCHD1 (G1568R)	Single nucleotide variant (missense variant)	Muscular dystrophy	GUncertain significance
Select item 2498206	NM_004006.3(DMD):c.9225-1G>C	DMD	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy	GLikely pathogenic
Select item 2502344	NM_004006.3(DMD):c.5048del (p.Thr1683fs)	DMD (T1560fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 689541	NM_004006.3(DMD):c.1812+601A>G	DMD	Single nucleotide variant (intron variant)	Muscular dystrophy	GLikely pathogenic
Select item 2502887	NM_004006.3(DMD):c.1150-14_1158dup	DMD	Duplication (splice acceptor variant)	Muscular dystrophy	GPathogenic

ClinVar