C0751360[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 19

	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 462829	NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)	CLCN1 (Q74*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 577893	NM_000083.3(CLCN1):c.302-1G>A	CLCN1	Single nucleotide variant (splice acceptor variant)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic
Select item 462844	NM_000083.3(CLCN1):c.434-2_434dup	CLCN1	Duplication (splice acceptor variant)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 209139	NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	CLCN1 (G190S)	Indel (missense variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 17541	NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	CLCN1 (E291K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic/Likely 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 dominant form +2 more	GPathogenic/Likely pathogenic
Select item 1062239	NM_000083.3(CLCN1):c.980-3C>G	CLCN1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 425428	NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)	CLCN1 (R338*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 1709272	NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)	CLCN1 (A350fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic/Likely pathogenic
Select item 447043	NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	CLCN1 (G355R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 585677	NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)	CLCN1 (G355E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 1709498	NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	Smith-Lemli-Opitz syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1708994	NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)	CLCN1 (P558L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 1013568	NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	CLCN1 (V640G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 429728	NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)	CLCN1 (E801*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1459630	NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	CLCN1 (Q812*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +2 more	GPathogenic
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