C0751360[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802378	NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)	CLCN1 (G118W)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GBenign
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +6 more	GConflicting classifications of pathogenicity
Select item 462828	NM_000083.3(CLCN1):c.1167-10T>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 802379	NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)	CLCN1 (A493E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity
Select item 1686571	NM_000083.3(CLCN1):c.2508+5G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 202176	NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)	CLCN1 (V860I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
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

ClinVar