"MGZ Medical Genetics Center"[submitter] AND "DYSF"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284800	NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	DYSF (R285W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1513475	NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly)	DYSF (D304G +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 217223	NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	DYSF (Q612* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 1709729	NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)	DYSF (T911S +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GUncertain significance
Select item 1180667	NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)	DYSF (L1214P +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more	GConflicting classifications of pathogenicity
Select item 1709480	NM_001130987.2(DYSF):c.5643-15A>G	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 1709644	NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)	DYSF (R1856fs +13 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 553719	NM_001130987.2(DYSF):c.5784+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +2 more	GLikely pathogenic
Select item 597680	NM_001130987.2(DYSF):c.5884+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 6668	NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	DYSF (R2042C +13 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic