ClinVar for PubMed (Select 28427807) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573345	NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)	CLCN1 (G845S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
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 836083	NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys)	CLCN1 (N567K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 804709	NM_000083.3(CLCN1):c.818T>C (p.Val273Ala)	CLCN1 (V273A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 636302	NM_000083.3(CLCN1):c.774G>A (p.Glu258=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
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 451184	NM_000083.3(CLCN1):c.378dup (p.Leu127fs)	CLCN1 (L127fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 447049	NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	CLCN1 (R421H)	Single nucleotide variant (missense variant)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 447043	NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	CLCN1 (G355R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	Myotonia of the upper limb +8 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)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 21052	NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	CLCN1 (A313T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
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 17539	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	CLCN1 (I290M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 17531	NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	CLCN1 (F413C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GPathogenic