"Genome-Nilou Lab"[submitter] AND "DNAAF5"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185527	NM_017802.4(DNAAF5):c.905+107T>C	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 18 +1 more	GBenign
Select item 1185528	NM_017802.4(DNAAF5):c.906-125T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260939	NM_017802.4(DNAAF5):c.906-4T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 260922	NM_017802.4(DNAAF5):c.1257+13A>G	DNAAF5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1185314	NM_017802.4(DNAAF5):c.1615-101G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185315	NM_017802.4(DNAAF5):c.1784-1298C>G	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 18	GBenign
Select item 260930	NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala)	DNAAF5 (V632A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1185316	NM_017802.4(DNAAF5):c.1932-67T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185317	NM_017802.4(DNAAF5):c.1932-35G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181231	NM_017802.4(DNAAF5):c.2082+32C>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185318	NM_017802.4(DNAAF5):c.2083-31G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260932	NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys)	DNAAF5 (R743K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1185319	NM_017802.4(DNAAF5):c.2432-40T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185320	NM_017802.4(DNAAF5):c.*139A>G	DNAAF5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign