C0751360[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658114	NM_000083.3(CLCN1):c.-59C>A	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
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/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
Select item 209138	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	CLCN1 (F167L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1175772	NM_000083.3(CLCN1):c.562+1G>C	CLCN1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3024208	NM_000083.3(CLCN1):c.603dup (p.Val202fs)	CLCN1 (V202fs)	Duplication (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 1175773	NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	CLCN1 (Y257*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 636302	NM_000083.3(CLCN1):c.774G>A (p.Glu258=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Abnormality of the musculature +3 more	GPathogenic/Likely pathogenic
Select item 3024209	NM_000083.3(CLCN1):c.774+3A>C	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024210	NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)	CLCN1 (E291*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024202	NM_000083.3(CLCN1):c.891del (p.Phe297fs)	CLCN1 (F297fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 21052	NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	CLCN1 (A313T)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 3024203	NM_000083.3(CLCN1):c.1027T>A (p.Phe343Ile)	CLCN1 (F343I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
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 623350	NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)	CLCN1 (F428fs)	Microsatellite (frameshift variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 447052	NM_000083.3(CLCN1):c.1471+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 17543	NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg)	CLCN1 (G499R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 21040	NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	CLCN1 (A531V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
Select item 3024204	NM_000083.3(CLCN1):c.1600G>A (p.Gly534Ser)	CLCN1 (G534S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 1013567	NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)	CLCN1 (T550R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely pathogenic
Select item 3024205	NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)	CLCN1, LOC123956257 (Q662*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024206	NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)	CLCN1, LOC123956257 (C666fs)	Microsatellite (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 3024207	NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)	CLCN1, LOC123956257 (E668*)	Duplication (nonsense +1 more)	Congenital myotonia, autosomal recessive form	GLikely pathogenic
Select item 280102	NM_000083.3(CLCN1):c.2364+2T>A	CLCN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
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 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
Select item 449671	NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	CLCN1 (E955V)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity

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Items: 27