"Genome-Nilou Lab"[submitter] AND "DNAI2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184651	NM_023036.6(DNAI2):c.-11-67A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 261648	NM_023036.6(DNAI2):c.345+27A>G	DNAI2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1184652	NM_023036.6(DNAI2):c.467+77G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 261653	NM_023036.6(DNAI2):c.610+31G>A	DNAI2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1184653	NM_023036.6(DNAI2):c.724+158G>A	DNAI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 163167	NM_023036.6(DNAI2):c.834C>T (p.Thr278=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +3 more	GBenign
Select item 1184654	NM_023036.6(DNAI2):c.865-81C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 178764	NM_023036.6(DNAI2):c.865-5A>G	DNAI2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1199339	NM_023036.6(DNAI2):c.1040G>C (p.Arg347Pro)	DNAI2 (R347P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 163168	NM_023036.6(DNAI2):c.1062A>G (p.Glu354=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +3 more	GBenign
Select item 696238	NM_023036.6(DNAI2):c.1287C>T (p.Asp429=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 163169	NM_023036.6(DNAI2):c.1347+7C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +3 more	GBenign
Select item 226610	NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile)	DNAI2 (V495I +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163171	NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr)	DNAI2 (A558T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 9 +3 more	GBenign
Select item 261645	NM_023036.6(DNAI2):c.1722+34G>A	DNAI2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261646	NM_023036.6(DNAI2):c.1722+41C>T	DNAI2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1184655	NM_023036.6(DNAI2):c.1722+78G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign