"Foundation for Research in Genetics and Endocrinology, FRIGE's Instit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523646	NM_001130987.2(DYSF):c.730del (p.Leu244fs)	DYSF (L244fs +3 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 6682	NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)	DYSF (G299W +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GPathogenic/Likely pathogenic
Select item 545663	NM_001130987.2(DYSF):c.1493+2dup	DYSF	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 545009	NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)	DYSF (L556P +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 290204	NM_001130987.2(DYSF):c.2217-1G>T	DYSF	Single nucleotide variant (splice acceptor variant)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic
Select item 196175	NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)	DYSF (Y1014C +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic/Likely pathogenic
Select item 545008	NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)	DYSF (Y1528* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 430739	NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)	DYSF (G1828D +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic