C1847532[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593661	NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)	DYSF (R89Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 94312	NM_001130987.2(DYSF):c.396C>T (p.Pro132=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 897270	NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)	DYSF (P143L +1 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GUncertain significance
Select item 94356	NM_001130987.2(DYSF):c.760-17C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +5 more	GBenign
Select item 538634	NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)	DYSF (N263S +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +4 more	GUncertain significance
Select item 94361	NM_001130987.2(DYSF):c.888+11T>C	DYSF	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 94368	NM_001130987.2(DYSF):c.1034-20G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +5 more	GBenign
Select item 94265	NM_001130987.2(DYSF):c.1276+11C>T	DYSF	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 259065	NM_001130987.2(DYSF):c.1277-48A>G	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GBenign
Select item 1199359	NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)	DYSF (N439K +3 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +2 more	GUncertain significance
Select item 94268	NM_001130987.2(DYSF):c.1449+13C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +7 more	GBenign
Select item 943432	NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)	DYSF (P515S +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GUncertain significance
Select item 259066	NM_001130987.2(DYSF):c.1807-24C>G	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GBenign
Select item 94281	NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +7 more	GBenign
Select item 767357	NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +3 more	GBenign/Likely benign
Select item 94282	NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 195598	NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)	DYSF (K656E +7 more)	Single nucleotide variant (missense variant)	DYSF-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 287317	NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)	DYSF	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1199340	NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)	DYSF (T699M +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +4 more	GConflicting classifications of pathogenicity
Select item 94290	NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi muscular dystrophy 1 +7 more	GBenign
Select item 1199303	NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn)	DYSF (Y1003N +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +2 more	GUncertain significance
Select item 94297	NM_001130987.2(DYSF):c.3086-17G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +5 more	GBenign
Select item 499041	NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)	DYSF (R1041H +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GConflicting classifications of pathogenicity
Select item 94301	NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])	DYSF	Microsatellite (inframe_insertion)	not provided +7 more	GBenign/Likely benign
Select item 452908	NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)	DYSF (P1214L +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 6667	NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	DYSF, LOC122787137 (I1298V +7 more)	Single nucleotide variant (missense variant)	DYSF-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 94316	NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +7 more	GBenign
Select item 259080	NM_001130987.2(DYSF):c.4626+43A>G	DYSF	Single nucleotide variant (intron variant)	Distal myopathy with anterior tibial onset +4 more	GBenign
Select item 538640	NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)	DYSF (I1623V +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 259081	NM_001130987.2(DYSF):c.5004-37C>T	DYSF	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1199302	NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)	DYSF (L1625Q +13 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +2 more	GUncertain significance
Select item 1199341	NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)	DYSF (P1667A +13 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +3 more	GConflicting classifications of pathogenicity
Select item 285686	NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)	DYSF (P1739Q +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 501808	NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)	DYSF (R1806W +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GUncertain significance
Select item 1199360	NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)	DYSF (L1811Q +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +2 more	GUncertain significance
Select item 1199265	NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe)	DYSF (L1816F +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +2 more	GUncertain significance
Select item 259082	NM_001130987.2(DYSF):c.5785-41C>T	DYSF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94346	NM_001130987.2(DYSF):c.5885-16T>C	DYSF	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 94348	NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +7 more	GBenign/Likely benign
Select item 94354	NM_001130987.2(DYSF):c.6321+15C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +7 more	GBenign/Likely benign

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Items: 40