"Ambry Genetics"[submitter] AND "DNAAF11"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908936	NM_012472.6(DNAAF11):c.*5T>G	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GConflicting classifications of pathogenicity
Select item 260274	NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)	DNAAF11 (I466T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 260273	NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)	DNAAF11 (P464L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2282926	NM_012472.6(DNAAF11):c.1390C>T (p.Pro464Ser)	DNAAF11 (P324S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 260272	NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr)	DNAAF11 (I448T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1164571	NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 730337	NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GLikely benign
Select item 1799855	NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)	DNAAF11 (H283R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 260271	NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2480095	NM_012472.6(DNAAF11):c.1178A>C (p.Lys393Thr)	DNAAF11 (K311T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2447541	NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 260269	NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)	DNAAF11 (G388S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 2625021	NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)	DNAAF11 (K260Q +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1799643	NM_012472.6(DNAAF11):c.1133T>C (p.Met378Thr)	DNAAF11 (M238T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2334421	NM_012472.6(DNAAF11):c.1117C>A (p.His373Asn)	DNAAF11 (H233N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 361902	NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg)	DNAAF11 (T370R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 473103	NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu)	DNAAF11 (K366E +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 1800269	NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2487608	NM_012472.6(DNAAF11):c.1054C>G (p.Leu352Val)	DNAAF11 (L270V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800310	NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)	DNAAF11 (R202* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 19 +1 more	GPathogenic
Select item 2321804	NM_012472.6(DNAAF11):c.1021G>A (p.Val341Met)	DNAAF11 (V221M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 644077	NM_012472.6(DNAAF11):c.997G>A (p.Asp333Asn)	DNAAF11 (D313N +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 1681032	NM_012472.6(DNAAF11):c.988T>A (p.Ser330Thr)	DNAAF11 (S190T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 1681033	NM_012472.6(DNAAF11):c.976T>A (p.Tyr326Asn)	DNAAF11 (Y186N +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 473109	NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val)	DNAAF11 (I317V +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 19 +1 more	GConflicting classifications of pathogenicity
Select item 2309085	NM_012472.6(DNAAF11):c.940G>A (p.Glu314Lys)	DNAAF11 (E194K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 654068	NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs)	DNAAF11 (D312fs +2 more)	Deletion (frameshift variant +2 more)	Primary ciliary dyskinesia 19 +1 more	GPathogenic
Select item 540330	NM_012472.6(DNAAF11):c.863C>A (p.Pro288His)	DNAAF11 (P288H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GBenign
Select item 2619114	NM_012472.6(DNAAF11):c.853G>C (p.Val285Leu)	DNAAF11 (V165L +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1800057	NM_012472.6(DNAAF11):c.802A>G (p.Met268Val)	DNAAF11 (M148V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1799677	NM_012472.6(DNAAF11):c.738_745dup (p.Phe249fs)	DNAAF11 (F129fs +2 more)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 911926	NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)	DNAAF11 (L120S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +2 more	GConflicting classifications of pathogenicity
Select item 260278	NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile)	DNAAF11 (T232I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 2447539	NM_012472.6(DNAAF11):c.681A>G (p.Leu227=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 718193	NM_012472.6(DNAAF11):c.645T>C (p.Asn215=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GLikely benign
Select item 582972	NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser)	DNAAF11 (N215S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GConflicting classifications of pathogenicity
Select item 208996	NM_012472.6(DNAAF11):c.630del (p.Trp210fs)	DNAAF11 (W128fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 260277	NM_012472.6(DNAAF11):c.609C>T (p.Asn203=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
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 39798	NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)	DNAAF11 (D146H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GPathogenic
Select item 724272	NM_012472.6(DNAAF11):c.369C>T (p.Asn123=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GLikely benign
Select item 964732	NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr)	DNAAF11 (H114Y +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 1800373	NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter)	DNAAF11 (Q110* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 260275	NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)	DNAAF11	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 714216	NM_012472.6(DNAAF11):c.186T>C (p.Val62=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GLikely benign
Select item 1681046	NM_012472.6(DNAAF11):c.147C>G (p.Leu49=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1800010	NM_012472.6(DNAAF11):c.106C>G (p.Leu36Val)	DNAAF11 (L36V)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 540327	NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)	DNAAF11 (S27fs)	Microsatellite (frameshift variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GConflicting classifications of pathogenicity
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 909004	NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn)	DNAAF11 (D17N)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 724594	NM_012472.6(DNAAF11):c.42A>G (p.Glu14=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GLikely benign
Select item 845673	NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln)	DNAAF11 (R11Q)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GConflicting classifications of pathogenicity
Select item 772282	NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)	DNAAF11 (R11W)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
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

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Items: 55