C0751360[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671637	NM_000083.3(CLCN1):c.180G>A (p.Gln60=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 21051	NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	CLCN1 (T310M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 810202	NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)	CLCN1 (T328I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
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 1070311	NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)	CLCN1 (F484L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 447054	NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)	CLCN1 (V536I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 2584978	NM_000083.3(CLCN1):c.1613A>C (p.His538Pro)	CLCN1 (H538P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 208084	NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	CLCN1 (T550M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 21041	NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)	CLCN1 (I556N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585685	NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)	CLCN1 (R611C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1459630	NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	CLCN1 (Q812*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic