C0751360[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 20

	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 dominant form +2 more	GPathogenic
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 289004	NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)	CLCN1 (G190R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1163875	NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)	CLCN1 (I227N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 17532	NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	CLCN1 (G230E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 265646	NM_000083.3(CLCN1):c.774+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form +3 more	GPathogenic
Select item 21047	NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)	CLCN1 (T268M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 280100	NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1 (G285E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GPathogenic
Select item 531747	NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)	CLCN1 (A298T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 252463	NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	CLCN1 (R300Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GConflicting classifications of pathogenicity
Select item 447075	NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter)	CLCN1 (W303*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 447078	NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)	CLCN1 (V327I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17531	NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	CLCN1 (F413C)	Single nucleotide variant (missense 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)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 447052	NM_000083.3(CLCN1):c.1471+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21040	NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	CLCN1 (A531V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 447058	NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)	CLCN1 (R626*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 451677	NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)	CLCN1 (K635E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 582345	NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)	CLCN1 (V851M)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant 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)	Myopathy +8 more	GPathogenic/Likely pathogenic

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Items: 20