"DNAI2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045458	NM_023036.6(DNAI2):c.-7C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	DNAI2-related condition	GLikely benign
Select item 698075	NM_023036.6(DNAI2):c.123C>T (p.Phe41=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 408959	NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp)	DNAI2 (R66W)	Single nucleotide variant (missense variant +1 more)	DNAI2-related condition +1 more	GUncertain significance
Select item 415315	NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)	DNAI2 (R66L)	Single nucleotide variant (missense variant +1 more)	DNAI2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2632611	NM_023036.6(DNAI2):c.314_318del (p.Asn105fs)	DNAI2 (N105fs)	Deletion (frameshift variant +1 more)	DNAI2-related condition	GLikely pathogenic
Select item 325009	NM_023036.6(DNAI2):c.468-4G>T	DNAI2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1753819	NM_023036.6(DNAI2):c.648G>A (p.Ser216=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	DNAI2-related condition +1 more	GLikely benign
Select item 701028	NM_023036.6(DNAI2):c.657C>T (p.Leu219=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	DNAI2-related condition +1 more	GLikely benign
Select item 967478	NM_023036.6(DNAI2):c.855G>A (p.Thr285=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 415317	NM_023036.6(DNAI2):c.1179A>G (p.Glu393=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 695768	NM_023036.6(DNAI2):c.1251C>T (p.Pro417=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	DNAI2-related condition +1 more	GLikely benign
Select item 2074712	NM_023036.6(DNAI2):c.1348-16C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 700477	NM_023036.6(DNAI2):c.1485A>G (p.Val495=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	DNAI2-related condition +1 more	GBenign/Likely benign
Select item 241452	NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 9 +3 more	GConflicting classifications of pathogenicity