"Jain Foundation"[submitter] AND "DYSF"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94366	NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)	DYSF (S289P +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GPathogenic/Likely pathogenic
Select item 552632	NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)	DYSF (G331E +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 858180	NM_001130987.2(DYSF):c.1003-3C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GPathogenic/Likely pathogenic
Select item 265488	NM_001130987.2(DYSF):c.1693-6T>A	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +2 more	GPathogenic
Select item 503800	NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)	DYSF	Insertion (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1350756	NM_001130987.2(DYSF):c.2697+5G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 167021	NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)	DYSF (W930C +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 94331	NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)	DYSF (K1598N +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +5 more	GConflicting classifications of pathogenicity
Select item 281012	NM_001130987.2(DYSF):c.5174+5G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 2441107	NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)	DYSF (E1752K +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GPathogenic/Likely pathogenic
Select item 500678	NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)	DYSF (M1835V +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity