Related gene-specific medical variations for Gene (Select 27019) - ClinVar - NCBI

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

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391102	NM_012144.4(DNAI1):c.138del (p.Ala47fs)	DNAI1 (A47fs)	Deletion (frameshift variant)	Kartagener syndrome	GPathogenic
Select item 3382515	NM_012144.4(DNAI1):c.252C>G (p.Tyr84Ter)	DNAI1 (Y84*)	Single nucleotide variant (nonsense)	Kartagener syndrome	GLikely pathogenic
Select item 3366948	NM_012144.4(DNAI1):c.526G>T (p.Glu176Ter)	DNAI1 (E176* +1 more)	Single nucleotide variant (nonsense)	Kartagener syndrome	GPathogenic
Select item 1324283	NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter)	DNAI1 (W563* +1 more)	Single nucleotide variant (nonsense)	Kartagener syndrome	GLikely pathogenic
Select item 991656	NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser)	DNAI1 (N291S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 991655	NM_012144.4(DNAI1):c.389-4C>G	DNAI1 (Q133E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 991654	NM_012144.4(DNAI1):c.309C>T (p.His103=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 991653	NM_012144.4(DNAI1):c.228C>A (p.His76Gln)	DNAI1 (H76Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 913580	NM_012144.4(DNAI1):c.-116T>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GLikely benign
Select item 366682	NM_012144.4(DNAI1):c.-83G>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 366681	NM_012144.4(DNAI1):c.-145C>T	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 366680	NM_012144.4(DNAI1):c.-170T>A	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 366679	NM_012144.4(DNAI1):c.-178G>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 366678	NM_012144.4(DNAI1):c.-180G>A	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance