"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1482073	NM_001287.6(CLCN7):c.2030G>T (p.Gly677Val)	CLCN7 (G677V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257953	NM_001287.6(CLCN7):c.1798-10C>T	CLCN7	Single nucleotide variant (intron variant)	Increased bone mineral density +3 more	GBenign
Select item 781319	NM_001287.6(CLCN7):c.1671C>T (p.Gly557=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 317948	NM_001287.6(CLCN7):c.1354-7C>T	CLCN7	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 65634	NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)	CLCN7 (V418M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 193627	NM_001287.6(CLCN7):c.900G>A (p.Ala300=)	CLCN7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 438670	NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)	CLCN7 (R286Q +1 more)	Single nucleotide variant (missense variant)	CLCN7-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1068483	NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)	CLCN7 (R262W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 317954	NM_001287.6(CLCN7):c.801G>A (p.Thr267=)	CLCN7	Single nucleotide variant (synonymous variant)	Increased bone mineral density +2 more	GBenign
Select item 1701975	NM_001287.6(CLCN7):c.698_712dup (p.Ser237_Val238insGlyValIleLeuSer)	CLCN7	Duplication (inframe_insertion)	Increased bone mineral density	GUncertain significance
Select item 317957	NM_001287.6(CLCN7):c.696C>T (p.Ser232=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1478516	NM_001287.6(CLCN7):c.689A>G (p.Lys230Arg)	CLCN7 (K230R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317963	NM_001287.6(CLCN7):c.350C>T (p.Thr117Met)	CLCN7 (T117M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign