"GeneDx"[submitter] AND "DNAI1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366679	NM_012144.4(DNAI1):c.-178G>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 178761	NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)	DNAI1 (A8S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 5604	NM_012144.4(DNAI1):c.48+2dup	DNAI1	Duplication (splice donor variant)	Kartagener syndrome +3 more	GPathogenic
Select item 1220568	NM_012144.4(DNAI1):c.48+215G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193075	NM_012144.4(DNAI1):c.49-250del	DNAI1	Deletion (intron variant)	not provided	GLikely benign
Select item 95492	NM_012144.4(DNAI1):c.81+5del	DNAI1	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1090330	NM_012144.4(DNAI1):c.81+61A>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 163163	NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)	DNAI1 (A60V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 260201	NM_012144.4(DNAI1):c.180G>A (p.Ala60=)	DNAI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1221067	NM_012144.4(DNAI1):c.261+131C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185907	NM_012144.4(DNAI1):c.262-63G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226608	NM_012144.4(DNAI1):c.297A>G (p.Gln99=)	DNAI1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163162	NM_012144.4(DNAI1):c.378A>G (p.Glu126=)	DNAI1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1706648	NM_012144.4(DNAI1):c.389-215C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287299	NM_012144.4(DNAI1):c.389-182G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 454836	NM_012144.4(DNAI1):c.389-1G>C	DNAI1 (G134R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1203796	NM_012144.4(DNAI1):c.502-90G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 551835	NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)	DNAI1 (E174K +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1194051	NM_012144.4(DNAI1):c.621+126C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258816	NM_012144.4(DNAI1):c.902-292T>G	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177009	NM_012144.4(DNAI1):c.902-125G>T	DNAI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1187096	NM_012144.4(DNAI1):c.902-110T>C	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 240859	NM_012144.4(DNAI1):c.978A>C (p.Gln326His)	DNAI1 (Q326H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 163164	NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)	DNAI1 (V335I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 260194	NM_012144.4(DNAI1):c.1019+42C>T	DNAI1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1227946	NM_012144.4(DNAI1):c.1019+118T>C	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283310	NM_012144.4(DNAI1):c.1064-322C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205168	NM_012144.4(DNAI1):c.1064-306C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450241	NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln)	DNAI1 (R362Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1057406	NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)	DNAI1 (L370P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454827	NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)	DNAI1 (F422del +1 more)	Deletion (inframe_deletion)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1221125	NM_012144.4(DNAI1):c.1311+146A>G	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242195	NM_012144.4(DNAI1):c.1311+209T>C	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228337	NM_012144.4(DNAI1):c.1311+301C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241699	NM_012144.4(DNAI1):c.1311+328C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706694	NM_012144.4(DNAI1):c.1312-109G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707371	NM_012144.4(DNAI1):c.1312-77G>C	DNAI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260200	NM_012144.4(DNAI1):c.1401+17G>A	DNAI1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 163165	NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)	DNAI1 (V487G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1177022	NM_012144.4(DNAI1):c.1489+130G>A	DNAI1	Single nucleotide variant (intron variant)	Kartagener syndrome +1 more	GBenign
Select item 1291698	NM_012144.4(DNAI1):c.1489+163G>C	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246727	NM_012144.4(DNAI1):c.1490-217G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 570874	NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)	DNAI1	Deletion (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1255266	NM_012144.4(DNAI1):c.1570-291A>G	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178763	NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)	DNAI1 (T535N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 288744	NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)	DNAI1 (W568S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1225341	NM_012144.4(DNAI1):c.1819-251C>T	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 51