"Baylor Genetics"[submitter] AND "CLCN1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 21050	NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	CLCN1 (F307S)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GPathogenic
Select item 17542	NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	CLCN1 (R317Q)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 860802	NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala)	CLCN1 (T735A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 359124	NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)	CLCN1 (A849T)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy +3 more	GConflicting classifications of pathogenicity
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
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic