C2936781[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - 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 1062706	NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)	CLCN1 (L173F)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 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 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 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 513358	NM_000083.3(CLCN1):c.1863A>G (p.Thr621=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Batten-Turner congenital myopathy +3 more	GLikely benign
Select item 531751	NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)	CLCN1 (Q753P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1063100	NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu)	CLCN1 (G898E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +2 more	GConflicting classifications of pathogenicity