C0751360[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289967	NM_000083.3(CLCN1):c.180+3A>T	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 21037	NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)	CLCN1 (R338Q)	Single nucleotide variant (missense variant +1 more)	CLCN1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +4 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 17538	NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	CLCN1 (Q552R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	Cerebral palsy +8 more	GPathogenic/Likely pathogenic

ClinVar