"Ambry Genetics"[submitter] AND "DNAAF5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272531	NM_017802.4(DNAAF5):c.8C>T (p.Ala3Val)	DNAAF5, PRKAR1B (A3V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2414686	NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)	DNAAF5, PRKAR1B (L4P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1780377	NM_017802.4(DNAAF5):c.17T>C (p.Val6Ala)	DNAAF5, PRKAR1B (V6A)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083360	NM_017802.4(DNAAF5):c.19G>A (p.Ala7Thr)	DNAAF5, PRKAR1B (A7T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272534	NM_017802.4(DNAAF5):c.20C>T (p.Ala7Val)	DNAAF5, PRKAR1B (A7V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1790696	NM_017802.4(DNAAF5):c.23A>C (p.Glu8Ala)	DNAAF5, PRKAR1B (E8A)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241204	NM_017802.4(DNAAF5):c.27C>T (p.Ala9=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 935654	NM_017802.4(DNAAF5):c.49G>A (p.Glu17Lys)	DNAAF5, PRKAR1B (E17K)	Single nucleotide variant (intron variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1753322	NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3083364	NM_017802.4(DNAAF5):c.65C>T (p.Ala22Val)	DNAAF5, LOC129997730 +1 more (A22V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 566686	NM_017802.4(DNAAF5):c.67G>C (p.Glu23Gln)	LOC129997730, PRKAR1B +1 more (E23Q)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1367513	NM_017802.4(DNAAF5):c.69G>T (p.Glu23Asp)	DNAAF5, LOC129997730 +1 more (E23D)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 260938	NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 2563334	NM_017802.4(DNAAF5):c.133G>A (p.Gly45Ser)	DNAAF5, LOC129997730 +1 more (G45S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141721	NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2563333	NM_017802.4(DNAAF5):c.142C>T (p.Arg48Cys)	DNAAF5, LOC129997730 +1 more (R48C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2625515	NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2335491	NM_017802.4(DNAAF5):c.160C>G (p.Arg54Gly)	DNAAF5, LOC129997730 +1 more (R54G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2340766	NM_017802.4(DNAAF5):c.172G>A (p.Glu58Lys)	DNAAF5, LOC129997730 +1 more (E58K)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1781110	NM_017802.4(DNAAF5):c.183C>G (p.Gly61=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1782486	NM_017802.4(DNAAF5):c.190G>T (p.Ala64Ser)	DNAAF5, LOC129997730 +1 more (A64S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1782482	NM_017802.4(DNAAF5):c.190G>A (p.Ala64Thr)	DNAAF5, LOC129997730 +1 more (A64T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083358	NM_017802.4(DNAAF5):c.191C>G (p.Ala64Gly)	DNAAF5, LOC129997730 +1 more (A64G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1786546	NM_017802.4(DNAAF5):c.213C>T (p.Gly71=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2314957	NM_017802.4(DNAAF5):c.214C>T (p.Pro72Ser)	DNAAF5, LOC129997730 +1 more (P72S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1787055	NM_017802.4(DNAAF5):c.216C>T (p.Pro72=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1787401	NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)	PRKAR1B, DNAAF5 +1 more (W73S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 663116	NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu)	DNAAF5, LOC129997730 +1 more (A74E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 3272532	NM_017802.4(DNAAF5):c.223C>T (p.Arg75Cys)	DNAAF5, LOC129997730 +1 more (R75C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2339240	NM_017802.4(DNAAF5):c.230T>C (p.Leu77Pro)	DNAAF5, LOC129997730 +1 more (L77P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 701061	NM_017802.4(DNAAF5):c.231G>A (p.Leu77=)	PRKAR1B, DNAAF5 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1791008	NM_017802.4(DNAAF5):c.241T>A (p.Leu81Met)	DNAAF5, LOC129997730 +1 more (L81M)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1932033	NM_017802.4(DNAAF5):c.259G>T (p.Asp87Tyr)	DNAAF5, PRKAR1B (D87Y)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1428786	NM_017802.4(DNAAF5):c.280G>A (p.Ala94Thr)	DNAAF5, PRKAR1B (A94T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 701477	NM_017802.4(DNAAF5):c.282G>A (p.Ala94=)	PRKAR1B, DNAAF5	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2543831	NM_017802.4(DNAAF5):c.287C>T (p.Ala96Val)	DNAAF5, PRKAR1B (A96V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1731623	NM_017802.4(DNAAF5):c.345G>A (p.Pro115=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1733212	NM_017802.4(DNAAF5):c.360G>C (p.Ala120=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 639538	NM_017802.4(DNAAF5):c.380G>A (p.Gly127Asp)	DNAAF5, PRKAR1B (G127D)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454867	NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)	DNAAF5, PRKAR1B (V129L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 566676	NM_017802.4(DNAAF5):c.392C>G (p.Ala131Gly)	DNAAF5, PRKAR1B (A131G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2448396	NM_017802.4(DNAAF5):c.394C>T (p.Arg132Cys)	DNAAF5, PRKAR1B (R132C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227046	NM_017802.4(DNAAF5):c.406G>C (p.Glu136Gln)	DNAAF5, PRKAR1B (E136Q)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525398	NM_017802.4(DNAAF5):c.412T>G (p.Cys138Gly)	DNAAF5, PRKAR1B (C138G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 700233	NM_017802.4(DNAAF5):c.426C>T (p.Arg142=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3083363	NM_017802.4(DNAAF5):c.431C>A (p.Ala144Glu)	DNAAF5, PRKAR1B (A144E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1739773	NM_017802.4(DNAAF5):c.432G>T (p.Ala144=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1026731	NM_017802.4(DNAAF5):c.436G>T (p.Val146Leu)	DNAAF5, PRKAR1B (V146L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241206	NM_017802.4(DNAAF5):c.440A>G (p.Gln147Arg)	PRKAR1B, DNAAF5 (Q147R)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 416078	NM_017802.4(DNAAF5):c.447G>C (p.Leu149=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2525408	NM_017802.4(DNAAF5):c.466T>G (p.Cys156Gly)	DNAAF5, PRKAR1B (C156G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 241207	NM_017802.4(DNAAF5):c.477G>A (p.Ala159=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 3272535	NM_017802.4(DNAAF5):c.482C>T (p.Ala161Val)	DNAAF5, PRKAR1B (A161V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1592205	NM_017802.4(DNAAF5):c.495C>T (p.Asp165=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1380420	NM_017802.4(DNAAF5):c.500C>G (p.Ala167Gly)	DNAAF5, PRKAR1B (A167G)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 567179	NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val)	DNAAF5, LOC129997731 +1 more (L168V)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 653739	NM_017802.4(DNAAF5):c.515G>A (p.Arg172His)	DNAAF5, LOC129997731 +1 more (R172H)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2448394	NM_017802.4(DNAAF5):c.518G>A (p.Cys173Tyr)	DNAAF5, LOC129997731 +1 more (C173Y)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2495073	NM_017802.4(DNAAF5):c.520T>G (p.Ser174Ala)	DNAAF5, LOC129997731 +1 more (S174A)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141099	NM_017802.4(DNAAF5):c.528C>G (p.Leu176=)	LOC129997731, DNAAF5 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1746923	NM_017802.4(DNAAF5):c.533C>T (p.Pro178Leu)	DNAAF5, LOC129997731 +1 more (P178L)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2563336	NM_017802.4(DNAAF5):c.543C>T (p.Ala181=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1747534	NM_017802.4(DNAAF5):c.543C>G (p.Ala181=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 241208	NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)	DNAAF5, LOC129997731 +1 more (R184S)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 18 +2 more	GConflicting classifications of pathogenicity
Select item 1749961	NM_017802.4(DNAAF5):c.582G>T (p.Ala194=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1752161	NM_017802.4(DNAAF5):c.619T>C (p.Ser207Pro)	DNAAF5 (S207P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 661778	NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro)	DNAAF5 (L208P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1752649	NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg)	DNAAF5 (G210R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525483	NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)	DNAAF5 (Q214E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 943860	NM_017802.4(DNAAF5):c.642G>T (p.Gln214His)	DNAAF5 (Q214H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525316	NM_017802.4(DNAAF5):c.671G>A (p.Arg224His)	DNAAF5 (R224H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227047	NM_017802.4(DNAAF5):c.673G>A (p.Val225Met)	DNAAF5 (V225M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 410304	NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)	DNAAF5 (A233T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 241209	NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)	DNAAF5 (H236L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 241210	NM_017802.4(DNAAF5):c.711T>C (p.Phe237=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 1394300	NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg)	DNAAF5 (G240R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1758402	NM_017802.4(DNAAF5):c.733G>A (p.Asp245Asn)	DNAAF5 (D245N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1760350	NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile)	DNAAF5 (V258I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2543323	NM_017802.4(DNAAF5):c.776C>T (p.Pro259Leu)	DNAAF5 (P259L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2159368	NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 416083	NM_017802.4(DNAAF5):c.777G>A (p.Pro259=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 525340	NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)	DNAAF5 (V261I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GConflicting classifications of pathogenicity
Select item 454869	NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln)	DNAAF5 (R263Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1761275	NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2544536	NM_017802.4(DNAAF5):c.808G>T (p.Gly270Cys)	DNAAF5 (G270C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 696227	NM_017802.4(DNAAF5):c.822G>C (p.Leu274=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3083365	NM_017802.4(DNAAF5):c.829C>T (p.Arg277Cys)	DNAAF5 (R277C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525442	NM_017802.4(DNAAF5):c.830G>A (p.Arg277His)	DNAAF5 (R277H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1763211	NM_017802.4(DNAAF5):c.839A>T (p.Tyr280Phe)	DNAAF5 (Y280F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454870	NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser)	DNAAF5 (N295S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454871	NM_017802.4(DNAAF5):c.888C>T (p.Asp296=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 834253	NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu)	DNAAF5 (V298L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1765351	NM_017802.4(DNAAF5):c.898G>A (p.Glu300Lys)	DNAAF5 (E300K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 260939	NM_017802.4(DNAAF5):c.906-4T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 3272528	NM_017802.4(DNAAF5):c.920G>C (p.Ser307Thr)	DNAAF5 (S307T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241211	NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg)	DNAAF5 (S307R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +3 more	GBenign/Likely benign
Select item 454872	NM_017802.4(DNAAF5):c.969C>A (p.Asp323Glu)	DNAAF5 (D323E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525578	NM_017802.4(DNAAF5):c.982C>T (p.Leu328=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1768772	NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1205939	NM_017802.4(DNAAF5):c.1000A>C (p.Thr334Pro)	DNAAF5 (T334P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign

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