"Clinical Genetics, Academic Medical Center"[submitter] AND "DYSF"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94288	NM_001130987.2(DYSF):c.239+20G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +2 more	GBenign
Select item 94326	NM_001130987.2(DYSF):c.460+17G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GBenign
Select item 94334	NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)	DYSF (A170E +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 94345	NM_001130987.2(DYSF):c.666T>C (p.Pro222=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GBenign/Likely benign
Select item 94361	NM_001130987.2(DYSF):c.888+11T>C	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 94364	NM_001130987.2(DYSF):c.951+4T>C	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 94368	NM_001130987.2(DYSF):c.1034-20G>A	DYSF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94268	NM_001130987.2(DYSF):c.1449+13C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi myopathy +6 more	GBenign
Select item 94275	NM_001130987.2(DYSF):c.1577-1635C>G	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GBenign/Likely benign
Select item 94281	NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign
Select item 94282	NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 94290	NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign
Select item 94294	NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 94297	NM_001130987.2(DYSF):c.3086-17G>A	DYSF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94300	NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)	DYSF (R1022Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 94301	NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])	DYSF	Microsatellite (inframe_insertion)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign/Likely benign
Select item 94306	NM_001130987.2(DYSF):c.3575-17C>T	DYSF	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 94307	NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 94310	NM_001130987.2(DYSF):c.3757-12C>T	DYSF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 94314	NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +4 more	GBenign
Select item 94315	NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)	DYSF (R1331L +7 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 94316	NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +7 more	GBenign
Select item 94318	NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GBenign/Likely benign
Select item 94319	NM_001130987.2(DYSF):c.4222-20G>A	DYSF	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 94328	NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 1328076	NM_001130987.2(DYSF):c.5546+20G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 94346	NM_001130987.2(DYSF):c.5885-16T>C	DYSF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94348	NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	DYSF	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 94354	NM_001130987.2(DYSF):c.6321+15C>T	DYSF	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29