C1850889[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579224	GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0	DYSF, LOC122787136	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic
Select item 265108	NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)	DYSF (Q111* +1 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic
Select item 813972	NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)	DYSF (T283A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 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)	Qualitative or quantitative defects of dysferlin +4 more	GUncertain significance
Select item 814017	NM_001130987.2(DYSF):c.951+3_951+4del	DYSF	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GConflicting classifications of pathogenicity
Select item 813984	NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)	DYSF (D465V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 813959	NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)	DYSF (C508R +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 195490	NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	DYSF (G618R +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 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 813963	NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)	DYSF (P1020fs +7 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 217225	NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)	DYSF (R1038* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic
Select item 813979	NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)	DYSF	Deletion (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 813985	NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)	DYSF (D1224fs +7 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more	GPathogenic/Likely pathogenic
Select item 635045	NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)	DYSF (Q1313* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 638577	NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)	DYSF (K1376fs +7 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GPathogenic/Likely pathogenic
Select item 813978	NM_001130987.2(DYSF):c.4221+5del	DYSF	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 94320	NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)	DYSF (I1419fs +7 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic
Select item 813989	NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)	DYSF (D1445N +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 2579223	GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0	DYSF	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2B	GUncertain significance
Select item 813962	NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)	DYSF (S1491Y +13 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +1 more	GUncertain significance
Select item 813986	NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)	DYSF (F1526fs +13 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B	GLikely pathogenic
Select item 813970	NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)	DYSF (Q1556* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GPathogenic/Likely pathogenic
Select item 217227	NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	DYSF (R1693W +13 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 1 +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)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 813990	NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)	DYSF (R1877S +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GUncertain significance
Select item 813969	NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)	DYSF (P1956L +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GConflicting classifications of pathogenicity

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Items: 26