"DNAAF11-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619125	NM_012472.6(DNAAF11):c.1148A>T (p.Glu383Val)	DNAAF11 (E243V +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2619114	NM_012472.6(DNAAF11):c.853G>C (p.Val285Leu)	DNAAF11 (V165L +2 more)	Single nucleotide variant (missense variant +1 more)	DNAAF11-related disorder +1 more	GUncertain significance
Select item 540332	NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)	DNAAF11 (Q192E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2631830	NM_012472.6(DNAAF11):c.429_429+15del	DNAAF11	Deletion (splice donor variant)	DNAAF11-related disorder	GLikely pathogenic
Select item 361905	NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln)	DNAAF11 (R44Q)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GBenign/Likely benign
Select item 752774	NM_012472.6(DNAAF11):c.66C>T (p.Ser22=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19 +2 more	GLikely benign
Select item 719921	NM_012472.6(DNAAF11):c.6C>A (p.Gly2=)	DNAAF11	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia +2 more	GLikely benign
Select item 540324	NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)	DNAAF11 (M1K)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity