"GeneDx"[submitter] AND "DYSF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 679856	NM_003494.3(DYSF):c.-497T>C	DYSF	Single nucleotide variant	not provided	GBenign
Select item 1208152	NM_003494.4(DYSF):c.-209G>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 681717	NM_003494.4(DYSF):c.-179C>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 510866	NM_003494.4(DYSF):c.-50T>A	DYSF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385866	NM_003494.4(DYSF):c.-44C>T	DYSF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509018	NM_003494.4(DYSF):c.-34G>T	DYSF	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 511436	NM_003494.4(DYSF):c.-12C>G	DYSF	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 501480	NM_003494.4(DYSF):c.4C>T (p.Leu2=)	DYSF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 668888	NM_003494.4(DYSF):c.88+12437C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247448	NM_003494.4(DYSF):c.88+12457C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215942	NM_003494.4(DYSF):c.88+12483C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679525	NM_003494.4(DYSF):c.88+12487C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681327	NM_003494.4(DYSF):c.88+12589T>C	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212650	NM_003494.4(DYSF):c.88+12606A>C	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681328	NM_001130987.2(DYSF):c.-128G>A	DYSF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 681329	NM_001130987.2(DYSF):c.-30G>A	DYSF	Single nucleotide variant (5 prime UTR variant +1 more)	Miyoshi muscular dystrophy 1 +1 more	GBenign
Select item 1293352	NM_001130987.2(DYSF):c.91+50C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668889	NM_001130987.2(DYSF):c.91+280A>G	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216071	NM_001130987.2(DYSF):c.92-292A>T	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387288	NM_001130987.2(DYSF):c.92-3T>C	DYSF	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2441151	NM_001130987.2(DYSF):c.106A>T (p.Thr36Ser)	DYSF (T35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502553	NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)	DYSF (N43K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1177669	NM_001130987.2(DYSF):c.147+133T>C	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668121	NM_001130987.2(DYSF):c.148-277T>C	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179998	NM_001130987.2(DYSF):c.148-199T>G	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260886	NM_001130987.2(DYSF):c.148-183ATCC[9]	DYSF	Microsatellite (intron variant)	not provided	GBenign
Select item 1260758	NM_001130987.2(DYSF):c.148-183ATCC[10]	DYSF	Microsatellite (intron variant)	not provided	GBenign
Select item 1238155	NM_001130987.2(DYSF):c.148-183ATCC[11]	DYSF	Microsatellite (intron variant)	not provided	GBenign
Select item 1207464	NM_001130987.2(DYSF):c.148-172C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251491	NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATTCATCCAT	DYSF	Microsatellite (intron variant)	not provided	GBenign
Select item 1242572	NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATCCATTCATCCAT	DYSF	Microsatellite (intron variant)	not provided	GBenign
Select item 1206653	NM_001130987.2(DYSF):c.148-150_148-149insCCATCCATCCATCCATTCATCCAT	DYSF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1173010	NM_001130987.2(DYSF):c.148-91C>T	DYSF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 284816	NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)	DYSF (V68L +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 336942	NM_001130987.2(DYSF):c.225G>A (p.Thr75=)	DYSF	Single nucleotide variant (synonymous variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 680535	NM_001130987.2(DYSF):c.239+8G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely benign
Select item 510044	NM_001130987.2(DYSF):c.239+16G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely benign
Select item 94288	NM_001130987.2(DYSF):c.239+20G>A	DYSF	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 496859	NM_001130987.2(DYSF):c.239+31C>G	DYSF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 668890	NM_001130987.2(DYSF):c.240-289G>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221919	NM_001130987.2(DYSF):c.240-195C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 538638	NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg)	DYSF (S97R +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GUncertain significance
Select item 285595	NM_001130987.2(DYSF):c.316C>T (p.Leu106=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 265108	NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)	DYSF (Q111* +1 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 513446	NM_001130987.2(DYSF):c.345+8C>T	DYSF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1298109	NM_001130987.2(DYSF):c.345+232C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193808	NM_001130987.2(DYSF):c.346-95C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202495	NM_001130987.2(DYSF):c.346-29A>G	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387491	NM_001130987.2(DYSF):c.346-16G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely benign
Select item 94308	NM_001130987.2(DYSF):c.356del (p.Val119fs)	DYSF (V119fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +5 more	GPathogenic
Select item 1201598	NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)	DYSF (P125L +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 94311	NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	DYSF (G128E +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
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 284837	NM_001130987.2(DYSF):c.429C>T (p.Ser143=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 94322	NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)	DYSF (P143Q +1 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 668474	NM_001130987.2(DYSF):c.460+9C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely benign
Select item 94326	NM_001130987.2(DYSF):c.460+17G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin +2 more	GBenign
Select item 677483	NM_001130987.2(DYSF):c.460+82C>T	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +1 more	GBenign/Likely benign
Select item 679366	NM_001130987.2(DYSF):c.460+150A>G	DYSF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 679367	NM_001130987.2(DYSF):c.460+222G>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679368	NM_001130987.2(DYSF):c.460+243G>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292521	NM_001130987.2(DYSF):c.461-228G>A	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186045	NM_001130987.2(DYSF):c.461-33C>A	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678956	NM_001130987.2(DYSF):c.554-75del	DYSF	Deletion (intron variant)	not provided	GLikely benign
Select item 285148	NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)	DYSF (G187R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 94334	NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)	DYSF (A170E +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 94343	NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)	DYSF (L189V +3 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +5 more	GBenign/Likely benign
Select item 94345	NM_001130987.2(DYSF):c.666T>C (p.Pro222=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 259084	NM_001130987.2(DYSF):c.690C>T (p.Pro230=)	DYSF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2420114	NM_001130987.2(DYSF):c.691G>A (p.Gly231Arg)	DYSF (G199R +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 336945	NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)	DYSF (T208A +3 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
Select item 1309109	NM_001130987.2(DYSF):c.739G>A (p.Asp247Asn)	DYSF (D215N +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GUncertain significance
Select item 936135	NM_001130987.2(DYSF):c.754_759+5del	DYSF	Deletion (splice donor variant)	Qualitative or quantitative defects of dysferlin +2 more	GLikely pathogenic
Select item 1293428	NM_001130987.2(DYSF):c.759+51C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679369	NM_001130987.2(DYSF):c.759+206G>C	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273267	NM_001130987.2(DYSF):c.759+246_759+247dup	DYSF	Duplication (intron variant)	not provided	GBenign
Select item 1236837	NM_001130987.2(DYSF):c.759+247dup	DYSF	Duplication (intron variant)	not provided	GBenign
Select item 1226370	NM_001130987.2(DYSF):c.759+247del	DYSF	Deletion (intron variant)	not provided	GBenign
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 259085	NM_001130987.2(DYSF):c.772G>A (p.Val258Met)	DYSF (V226M +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 198497	NM_001130987.2(DYSF):c.777C>T (p.Ile259=)	DYSF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500004	NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	DYSF (P233L +3 more)	Single nucleotide variant (missense variant)	DYSF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 198494	NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)	DYSF (N236T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 390866	NM_001130987.2(DYSF):c.828C>T (p.Thr276=)	DYSF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 94358	NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	DYSF (T252M +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +5 more	GPathogenic/Likely pathogenic
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 283965	NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)	DYSF (R253Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
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 681724	NM_001130987.2(DYSF):c.888+97T>C	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681726	NM_001130987.2(DYSF):c.889-104G>A	DYSF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 672452	NM_001130987.2(DYSF):c.889-68G>A	DYSF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1212242	NM_001130987.2(DYSF):c.889-37A>G	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259086	NM_001130987.2(DYSF):c.889-34C>T	DYSF	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1187375	NM_001130987.2(DYSF):c.889-27A>G	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515787	NM_001130987.2(DYSF):c.889-6C>T	DYSF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 94364	NM_001130987.2(DYSF):c.951+4T>C	DYSF	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 259087	NM_001130987.2(DYSF):c.951+39T>C	DYSF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1191524	NM_001130987.2(DYSF):c.951+67C>T	DYSF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677484	NM_001130987.2(DYSF):c.951+82A>G	DYSF	Single nucleotide variant (intron variant)	not provided	GBenign

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