DNAAF3[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330205	NM_001256715.2(DNAAF3):c.*28A>C	DNAAF3	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454620	NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)	DNAAF3	Single nucleotide variant (stop lost)	Primary ciliary dyskinesia +3 more	GUncertain significance
Select item 2987489	NM_001256715.2(DNAAF3):c.1605A>G (p.Ser535=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 330206	NM_001256715.2(DNAAF3):c.1590G>A (p.Pro530=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 330207	NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)	DNAAF3 (P577L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 632321	NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)	DNAAF3 (A596fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 2 +1 more	GUncertain significance
Select item 2009488	NM_001256715.2(DNAAF3):c.1580C>A (p.Ala527Asp)	DNAAF3 (A594D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1575369	NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3364369	NM_001256715.2(DNAAF3):c.1570C>T (p.Pro524Ser)	DNAAF3 (P470S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2250287	NM_001256715.2(DNAAF3):c.1543G>A (p.Gly515Ser)	DNAAF3 (G582S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 416073	NM_001256715.2(DNAAF3):c.1536G>A (p.Glu512=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2244639	NM_001256715.2(DNAAF3):c.1516C>T (p.Pro506Ser)	DNAAF3 (P452S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2040223	NM_001256715.2(DNAAF3):c.1509C>T (p.His503=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1922060	NM_001256715.2(DNAAF3):c.1507C>T (p.His503Tyr)	DNAAF3 (H550Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454619	NM_001256715.2(DNAAF3):c.1495G>A (p.Gly499Ser)	DNAAF3 (G566S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1134768	NM_001256715.2(DNAAF3):c.1494G>A (p.Gln498=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1099438	NM_001256715.2(DNAAF3):c.1491G>A (p.Leu497=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1778054	NM_001256715.2(DNAAF3):c.1487C>A (p.Pro496His)	DNAAF3 (P496H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410285	NM_001256715.2(DNAAF3):c.1487C>T (p.Pro496Leu)	DNAAF3 (P543L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141933	NM_001256715.2(DNAAF3):c.1485G>C (p.Gln495His)	DNAAF3 (Q495H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454618	NM_001256715.2(DNAAF3):c.1475dup (p.Leu493fs)	DNAAF3 (L439fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 646805	NM_001256715.2(DNAAF3):c.1471_1472delinsAG (p.Glu491Arg)	DNAAF3 (E538R +3 more)	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 953689	NM_001256715.2(DNAAF3):c.1471G>T (p.Glu491Ter)	DNAAF3 (E437* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 2908272	NM_001256715.2(DNAAF3):c.1453G>A (p.Ala485Thr)	DNAAF3 (A431T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1777212	NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro)	DNAAF3 (L429P +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1468186	NM_001256715.2(DNAAF3):c.1443G>C (p.Gln481His)	DNAAF3 (Q481H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1611478	NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2105547	NM_001256715.2(DNAAF3):c.1429G>C (p.Asp477His)	DNAAF3 (D423H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 566321	NM_001256715.2(DNAAF3):c.1424C>G (p.Pro475Arg)	DNAAF3 (P522R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1135298	NM_001256715.2(DNAAF3):c.1422G>A (p.Pro474=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1979955	NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu)	DNAAF3 (P521L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1352048	NM_001256715.2(DNAAF3):c.1415G>A (p.Gly472Glu)	DNAAF3 (G539E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 330208	NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)	DNAAF3 (G539R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1205824	NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 238685	NM_001256715.2(DNAAF3):c.1410del (p.Glu470fs)	DNAAF3 (E416fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2163986	NM_001256715.2(DNAAF3):c.1408G>C (p.Glu470Gln)	DNAAF3 (E416Q +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272521	NM_001256715.2(DNAAF3):c.1396G>A (p.Val466Ile)	DNAAF3 (V513I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1963337	NM_001256715.2(DNAAF3):c.1395T>C (p.Thr465=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2306196	NM_001256715.2(DNAAF3):c.1394C>G (p.Thr465Ser)	DNAAF3 (T512S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2454170	NM_001256715.2(DNAAF3):c.1393A>G (p.Thr465Ala)	DNAAF3 (T411A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 939936	NM_001256715.2(DNAAF3):c.1391A>C (p.Asn464Thr)	DNAAF3 (N511T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1563257	NM_001256715.2(DNAAF3):c.1389C>A (p.Gly463=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2288364	NM_001256715.2(DNAAF3):c.1387G>A (p.Gly463Ser)	DNAAF3 (G530S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3363575	NM_001256715.2(DNAAF3):c.1382C>A (p.Ala461Asp)	DNAAF3 (A407D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300552	NC_000019.10:g.55166933T>C	DNAAF3	Single nucleotide variant	not provided	GLikely benign
Select item 1288621	NC_000019.10:g.55167031del	DNAAF3	Deletion	not provided	GBenign
Select item 1243611	NC_000019.10:g.55167031C>A	DNAAF3	Single nucleotide variant	not provided	GBenign

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Items: 47