"Genome-Nilou Lab"[submitter] AND "CLCN7"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185532	NM_001287.6(CLCN7):c.2251-50G>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 2 +3 more	GBenign
Select item 1182661	NM_001287.6(CLCN7):c.1884-35T>C	CLCN7	Single nucleotide variant (intron variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GBenign
Select item 1183287	NM_001287.6(CLCN7):c.1618-49G>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 4 +3 more	GBenign
Select item 1185533	NM_001287.6(CLCN7):c.1448-43dup	CLCN7	Duplication (intron variant)	not provided +3 more	GBenign
Select item 257949	NM_001287.6(CLCN7):c.1170A>T (p.Ala390=)	CLCN7	Single nucleotide variant (synonymous variant)	Hypopigmentation, organomegaly, and delayed myelination and development +5 more	GBenign
Select item 1185329	NM_001287.6(CLCN7):c.981+133G>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 2 +3 more	GBenign
Select item 1185330	NM_001287.6(CLCN7):c.676-85G>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 2 +3 more	GBenign
Select item 1185331	NM_001287.6(CLCN7):c.676-86C>G	CLCN7	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 2 +3 more	GBenign
Select item 1174284	NM_001287.6(CLCN7):c.485-39A>C	CLCN7	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1185332	NM_001287.6(CLCN7):c.285+52C>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 4 +3 more	GBenign
Select item 193203	NM_001287.6(CLCN7):c.126T>C (p.Pro42=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	Osteopetrosis +5 more	GBenign