Related gene-specific medical variations for Gene (Select 9013) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696480	NM_001243156.2(TAF1C):c.1522del (p.Gln508fs)	TAF1C (Q125fs +5 more)	Deletion (frameshift variant)	TAF1C-Associated Neurodevelopmental Disorder	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 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

ClinVar