C0240421[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374091	NM_018392.5(ZGRF1):c.3596_3597del (p.Ser1199fs)	ZGRF1 (S1141fs +1 more)	Microsatellite (frameshift variant)	Dysphagia +6 more	GUncertain significance
Select item 523528	NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	CHAT (T236M +2 more)	Single nucleotide variant (missense variant)	Aspiration pneumonia +11 more	GPathogenic/Likely pathogenic
Select item 523529	NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)	CHAT (S576C +2 more)	Single nucleotide variant (missense variant)	Gastroesophageal reflux +11 more	GPathogenic
Select item 374170	NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)	IGHMBP2 (G61R)	Single nucleotide variant (missense variant)	Progressive muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 374169	NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	IGHMBP2 (R320*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +6 more	GPathogenic/Likely pathogenic
Select item 523468	NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)	DMD (W1613* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +4 more	GPathogenic

ClinVar