Related gene-specific medical variations for Gene (Select 123872) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360112	NM_178452.6(DNAAF1):c.741+3_741+8del	DNAAF1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3243219	NC_000016.9:g.(?_84199369)_(84199575_?)del	DNAAF1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2440893	NM_178452.6(DNAAF1):c.125-5T>C	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 1344595	NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter)	DNAAF1 (Y25* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 591971	NM_178452.6(DNAAF1):c.3G>A (p.Met1Ile)	DNAAF1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 320784	NM_178452.6(DNAAF1):c.*67T>C	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GLikely benign
Select item 320783	NM_178452.6(DNAAF1):c.43_46del	TAF1C, DNAAF1	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 320782	NM_178452.6(DNAAF1):c.*16T>C	TAF1C, DNAAF1	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320764	NM_178452.6(DNAAF1):c.-83dup	DNAAF1, LOC130059566	Duplication (5 prime UTR variant)	Primary ciliary dyskinesia	GLikely benign
Select item 320763	NM_178452.6(DNAAF1):c.-100G>A	DNAAF1, LOC130059566	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320762	NM_178452.6(DNAAF1):c.-128G>C	DNAAF1, LOC130059566	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 262949	NM_178452.6(DNAAF1):c.2065+9G>C	DNAAF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262948	NM_178452.6(DNAAF1):c.1989C>G (p.Pro663=)	DNAAF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 262934	NM_178452.6(DNAAF1):c.-19C>T	DNAAF1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 262933	NM_178452.6(DNAAF1):c.*36C>T	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 262932	NM_178452.6(DNAAF1):c.*18T>C	TAF1C, DNAAF1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 65498	NM_178452.6(DNAAF1):c.124+1536_353-2102del	DNAAF1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 13	GPathogenic