C1847532[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282316	NM_001130987.2(DYSF):c.342del (p.Ala116fs)	DYSF (A115fs +1 more)	Deletion (frameshift variant)	Distal myopathy with anterior tibial onset +4 more	GPathogenic/Likely pathogenic
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 94355	NM_001130987.2(DYSF):c.759+1G>C	DYSF	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 971899	NM_001130987.2(DYSF):c.785G>A (p.Arg262His)	DYSF (R262H +3 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +4 more	GUncertain significance
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 499095	NM_001130987.2(DYSF):c.922del (p.Glu308fs)	DYSF (E277fs +3 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic
Select item 500937	NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)	DYSF (T285M +3 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +4 more	GUncertain significance
Select item 864798	NM_001130987.2(DYSF):c.1002+4A>G	DYSF	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 94262	NM_001130987.2(DYSF):c.1149+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 1437442	NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)	DYSF (R370Q +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 265487	NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)	DYSF (R377* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +5 more	GPathogenic/Likely pathogenic
Select item 288879	NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)	DYSF (M451I +3 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +5 more	GUncertain significance
Select item 285813	NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)	DYSF (R500C +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 94274	NM_003494.4(DYSF):c.1481-1G>A	DYSF	Single nucleotide variant (splice acceptor variant +1 more)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 538623	NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)	DYSF (Y540H +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 217223	NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	DYSF (Q612* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 471284	NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)	DYSF (V705M +7 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +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 195749	NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)	DYSF (G761S +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +4 more	GConflicting classifications of pathogenicity
Select item 283977	NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)	DYSF (R808Q +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +6 more	GConflicting classifications of pathogenicity
Select item 94291	NM_001130987.2(DYSF):c.2697+1G>A	DYSF	Single nucleotide variant (splice donor variant)	Miyoshi muscular dystrophy 1 +5 more	GPathogenic/Likely pathogenic
Select item 290702	NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)	DYSF (P952L +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +4 more	GConflicting classifications of pathogenicity
Select item 284254	NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	DYSF (R959W +7 more)	Single nucleotide variant (missense variant)	DYSF-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 551236	NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)	DYSF (W1010R +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +3 more	GPathogenic/Likely pathogenic
Select item 196125	NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser)	DYSF (N1004S +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +5 more	GUncertain significance
Select item 1515960	NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly)	DYSF (E1031G +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GUncertain significance
Select item 284003	NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)	DYSF (P1020L +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 645293	NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)	DYSF (R1039W +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +3 more	GConflicting classifications of pathogenicity
Select item 286603	NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)	DYSF (R1062C +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GUncertain significance
Select item 597129	NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)	DYSF (R1062H +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 6675	NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	DYSF (R1046H +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic/Likely pathogenic
Select item 94305	NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)	DYSF	Indel (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
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 167025	NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)	DYSF (Q1278* +7 more)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 500922	NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)	DYSF (C1361R +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 94320	NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)	DYSF (I1419fs +7 more)	Duplication (frameshift variant)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 538622	NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)	DYSF (V1435M +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 285584	NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)	DYSF (Y1433* +7 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 197433	NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	DYSF (W1478* +13 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 631867	NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)	DYSF (R1581C +13 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 290187	NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)	DYSF (T1661M +13 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +4 more	GConflicting classifications of pathogenicity
Select item 1300185	NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)	DYSF (E1610fs +13 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic
Select item 554830	NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)	DYSF (T1662M +13 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +5 more	GConflicting classifications of pathogenicity
Select item 553247	NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)	DYSF (C1678S +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GConflicting classifications of pathogenicity
Select item 984127	NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	DYSF (Q1668* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 989559	NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu)	DYSF (Q1693E +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +3 more	GUncertain significance
Select item 573556	NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)	DYSF (R1756Q +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GConflicting classifications of pathogenicity
Select item 538631	NM_001130987.2(DYSF):c.5317+1G>A	DYSF	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 18443	NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	DYSF (R1810K +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic/Likely pathogenic
Select item 94341	NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)	DYSF (D1876N +13 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 286816	NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)	DYSF (E2047K +13 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 550197	NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])	DYSF	Microsatellite (inframe_deletion)	Qualitative or quantitative defects of dysferlin +4 more	GUncertain significance

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Items: 53