"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689559	NM_001130987.2(DYSF):c.1432A>G (p.Ile478Val)	DYSF (I446V +3 more)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 291310	NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
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 197504	NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)	DYSF (I1607T +13 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 369690	NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)	DYSF (K1595fs +13 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 689584	NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)	DYSF (Q1895* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1	GLikely pathogenic
Select item 3235265	NM_001130987.2(DYSF):c.6021G>T (p.Trp2007Cys)	DYSF (W1954C +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance

ClinVar