"Genome-Nilou Lab"[submitter] AND "CCDC40"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166807	NM_017950.4(CCDC40):c.207G>C (p.Val69=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260976	NM_017950.4(CCDC40):c.553-41A>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +2 more	GBenign
Select item 178707	NM_017950.4(CCDC40):c.676+13T>C	CCDC40	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 178708	NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 162850	NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1192657	NM_017950.4(CCDC40):c.2450-89A>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +1 more	GBenign
Select item 1192699	NM_017950.4(CCDC40):c.2450-53G>A	CCDC40	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260968	NM_017950.4(CCDC40):c.3022-48C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +2 more	GBenign
Select item 178711	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 260972	NM_017950.4(CCDC40):c.3180+45A>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +2 more	GBenign
Select item 178712	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database