C0751360[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 639252	NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	CLCN1 (R105C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait +5 more	GConflicting classifications of pathogenicity
Select item 3068602	NM_000083.3(CLCN1):c.502C>G (p.Pro168Ala)	CLCN1 (P168A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 546108	NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)	CLCN1 (G482R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 280101	NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	CLCN1 (M485V)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GConflicting classifications of pathogenicity
Select item 208084	NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	CLCN1 (T550M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic

ClinVar