ClinVar for MedGen (Select 867362) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 426106	NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)	TWNK (R374Q)	Single nucleotide variant (missense variant +2 more)	EMG: myopathic abnormalities +8 more	GPathogenic/Likely pathogenic
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 374142	NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)	RYR1 (P4905T +1 more)	Single nucleotide variant (missense variant)	Congenital hip dislocation +3 more	GUncertain significance
Select item 374109	NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)	DPM3 (L46Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GLikely pathogenic
Select item 374010	NM_004006.3(DMD):c.177del (p.Gln60fs)	DMD (Q52fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 3B +9 more	GLikely pathogenic
Select item 373999	NM_004006.3(DMD):c.5203C>A (p.Arg1735Ser)	DMD (R1735S +5 more)	Single nucleotide variant (missense variant)	Shoulder girdle muscle weakness +2 more	GUncertain significance
Select item 373998	NM_182961.4(SYNE1):c.19958G>C (p.Ser6653Thr)	SYNE1 (S6582T +1 more)	Single nucleotide variant (missense variant)	Shoulder girdle muscle weakness +1 more	GUncertain significance
Select item 373920	NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	KIF1B (E825K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 373919	NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)	SELENON (R161Q +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +5 more	GUncertain significance
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 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
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 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 5835	NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)	MYOT, PKD2L2-DT (S55F)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic