ClinVar for MedGen (Select 57735) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2042097	NM_004369.4(COL6A3):c.7029+11G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1700582	NM_058246.4(DNAJB6):c.78G>A (p.Leu26=)	DNAJB6	Single nucleotide variant (synonymous variant)	Muscle weakness	GUncertain significance
Select item 1341966	NM_015295.3(SMCHD1):c.261del (p.Phe87fs)	SMCHD1 (F87fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 1027667	NM_014846.4(WASHC5):c.2199G>A (p.Lys733=)	WASHC5	Single nucleotide variant (synonymous variant)	Muscle weakness	GUncertain significance
Select item 984794	NM_015295.3(SMCHD1):c.3891T>A (p.His1297Gln)	SMCHD1 (H1297Q)	Single nucleotide variant (missense variant)	Muscle weakness	GUncertain significance
Select item 694654	NM_001159699.2(FHL1):c.211C>T (p.His71Tyr)	FHL1 (H55Y +2 more)	Single nucleotide variant (missense variant +1 more)	Muscle weakness	GUncertain significance
Select item 689581	NM_138638.5(CFL2):c.353C>G (p.Ala118Gly)	CFL2 (A101G +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 689568	NM_006790.3(MYOT):c.1046C>T (p.Pro349Leu)	MYOT, PKD2L2-DT (P165L +2 more)	Single nucleotide variant (missense variant)	Muscle weakness	GUncertain significance
Select item 635861	NM_004035.7(ACOX1):c.1729-1G>A	ACOX1	Single nucleotide variant (splice acceptor variant)	Muscle weakness	GLikely pathogenic
Select item 598977	NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)	COL6A2 (T670A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +13 more	GUncertain significance
Select item 598975	NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)	SYNE2 (G6542W +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +10 more	GUncertain significance
Select item 598974	NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)	RYR1 (R3366L)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +12 more	GConflicting classifications of pathogenicity
Select item 523530	NM_020549.5(CHAT):c.403C>T (p.Pro135Ser)	CHAT (P135S +2 more)	Single nucleotide variant (missense variant)	Muscle weakness +5 more	GUncertain significance
Select item 523413	NM_001130987.2(DYSF):c.2444T>A (p.Met815Lys)	DYSF (M797K +7 more)	Single nucleotide variant (missense variant)	Muscle weakness +3 more	GUncertain significance
Select item 523358	NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met)	SLC12A3 (V153M +1 more)	Single nucleotide variant (missense variant)	Hypokalemia +5 more	GConflicting classifications of pathogenicity
Select item 523338	NM_000161.3(GCH1):c.655C>T (p.Gln219Ter)	GCH1 (Q219*)	Single nucleotide variant (nonsense +1 more)	Rigidity +5 more	GLikely pathogenic
Select item 523316	NM_000070.3(CAPN3):c.632+5G>A	CAPN3	Single nucleotide variant (intron variant)	Muscle weakness +2 more	GLikely pathogenic
Select item 446471	NM_001458.5(FLNC):c.1325C>G (p.Pro442Arg)	FLNC (P442R)	Single nucleotide variant (missense variant)	Muscle weakness	GUncertain significance
Select item 422408	NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)	BICD2 (N546del)	Deletion (inframe_deletion)	not provided +15 more	GPathogenic/Likely pathogenic
Select item 386521	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	CACNA1A (T2043M +3 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder +18 more	GConflicting classifications of pathogenicity
Select item 374191	NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)	DMD (W546* +3 more)	Single nucleotide variant (nonsense)	Calf muscle hypertrophy +7 more	GPathogenic
Select item 374186	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND (S259fs +3 more)	Deletion (frameshift variant)	Ptosis +3 more	GLikely pathogenic
Select item 374185	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND (W462L +3 more)	Single nucleotide variant (missense variant)	Ptosis +3 more	GLikely pathogenic
Select item 374095	NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)	SLC2A1 (Q469H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +13 more	GUncertain significance
Select item 374050	NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys)	NEB (N2454K)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 374048	NM_058246.4(DNAJB6):c.179A>G (p.Lys60Arg)	DNAJB6 (K60R)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +2 more	GUncertain significance
Select item 373991	NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)	DYNC1H1 (G1771R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 373966	NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del)	SYT2	Deletion (inframe_deletion)	Muscle weakness +1 more	GLikely pathogenic
Select item 373945	NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SCN4A (V445L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GConflicting classifications of pathogenicity
Select item 373217	NM_003172.4(SURF1):c.751+5G>A	SURF1	Single nucleotide variant (intron variant)	Cerebellar ataxia +6 more	GConflicting classifications of pathogenicity
Select item 361723	NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +8 more	GConflicting classifications of pathogenicity
Select item 281062	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	CAPN3 (G393fs +1 more)	Deletion (frameshift variant)	not provided +8 more	GPathogenic
Select item 265506	NM_001849.4(COL6A2):c.1970-9G>A	COL6A2	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of collagen 6 +12 more	GConflicting classifications of pathogenicity
Select item 224674	NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]	FKRP (L276I +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related condition +7 more	GPathogenic/Likely pathogenic
Select item 194453	NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	NEB, RIF1 (T8491M +2 more)	Single nucleotide variant (missense variant)	NEB-related condition +5 more	GConflicting classifications of pathogenicity
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more	GPathogenic
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	SURF1-related condition +11 more	GPathogenic
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more	GPathogenic/Likely pathogenic

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Items: 41