C0575081[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523427	NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr)	TTN (K3815T +4 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy +4 more	GUncertain significance
Select item 373970	NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)	POMT1 (R620Q +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
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 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 374112	NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SPG11 (L1794P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 374071	NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)	SPG11 (G1262V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 523443	NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)	AARS1 (V685A)	Single nucleotide variant (missense variant)	Clubfoot +7 more	GUncertain significance

ClinVar