DNAAF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
Select item 1279566	NC_000016.10:g.84145042A>G	DNAAF1, HSDL1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283046	NC_000016.10:g.84145087C>G	DNAAF1, HSDL1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1301511	NC_000016.10:g.84145122G>C	DNAAF1, HSDL1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1708889	NC_000016.10:g.84145190C>G	DNAAF1, LOC130059566	Single nucleotide variant	not provided	GLikely benign
Select item 1205613	NC_000016.10:g.84145249G>A	DNAAF1, LOC130059566	Single nucleotide variant	not provided	GLikely benign
Select item 320759	NM_178452.5(DNAAF1):c.-172G>A	DNAAF1, LOC130059566	Single nucleotide variant	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 320760	NM_178452.5(DNAAF1):c.-146G>C	DNAAF1, LOC130059566	Single nucleotide variant	Primary ciliary dyskinesia	GUncertain significance
Select item 320761	NM_178452.5(DNAAF1):c.-141G>A	DNAAF1, LOC130059566	Single nucleotide variant	Primary ciliary dyskinesia	GUncertain significance
Select item 320762	NM_178452.6(DNAAF1):c.-128G>C	DNAAF1, LOC130059566	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 320763	NM_178452.6(DNAAF1):c.-100G>A	DNAAF1, LOC130059566	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320764	NM_178452.6(DNAAF1):c.-83dup	DNAAF1, LOC130059566	Duplication (5 prime UTR variant)	Primary ciliary dyskinesia	GLikely benign
Select item 886425	NM_178452.6(DNAAF1):c.-66T>C	DNAAF1	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 13 +1 more	GBenign
Select item 262934	NM_178452.6(DNAAF1):c.-19C>T	DNAAF1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 591971	NM_178452.6(DNAAF1):c.3G>A (p.Met1Ile)	DNAAF1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1744686	NM_178452.6(DNAAF1):c.4C>A (p.His2Asn)	DNAAF1 (H2N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2259587	NM_178452.6(DNAAF1):c.7C>T (p.Pro3Ser)	DNAAF1 (P3S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2605794	NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)	DNAAF1 (P5A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2339362	NM_178452.6(DNAAF1):c.29C>T (p.Thr10Ile)	DNAAF1 (T10I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2048027	NM_178452.6(DNAAF1):c.30del (p.Gly11fs)	DNAAF1 (G11fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 525263	NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala)	DNAAF1 (G11A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1731055	NM_178452.6(DNAAF1):c.33T>C (p.Gly11=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2712901	NM_178452.6(DNAAF1):c.39A>C (p.Ala13=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1523118	NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val)	DNAAF1 (L16V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272499	NM_178452.6(DNAAF1):c.49G>T (p.Asp17Tyr)	DNAAF1 (D17Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2166548	NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter)	DNAAF1 (Q20*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 886426	NM_178452.6(DNAAF1):c.65C>T (p.Pro22Leu)	DNAAF1 (P22L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 2484053	NM_178452.6(DNAAF1):c.68G>A (p.Gly23Asp)	DNAAF1 (G23D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 856917	NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln)	DNAAF1 (E25Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2466441	NM_178452.6(DNAAF1):c.83C>T (p.Ala28Val)	DNAAF1 (A28V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3047802	NM_178452.6(DNAAF1):c.91C>T (p.His31Tyr)	DNAAF1 (H31Y)	Single nucleotide variant (missense variant)	DNAAF1-related disorder	GUncertain significance
Select item 959144	NM_178452.6(DNAAF1):c.93C>A (p.His31Gln)	DNAAF1 (H31Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272507	NM_178452.6(DNAAF1):c.94G>A (p.Gly32Arg)	DNAAF1 (G32R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3012491	NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 886427	NM_178452.6(DNAAF1):c.100G>A (p.Ala34Thr)	DNAAF1 (A34T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 2163032	NM_178452.6(DNAAF1):c.105C>T (p.Gly35=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1786101	NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro)	DNAAF1 (R36P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1411182	NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu)	DNAAF1 (G37E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 215544	NM_178452.6(DNAAF1):c.112G>A (p.Gly38Ser)	DNAAF1 (G38S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 525492	NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala)	DNAAF1 (G38A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454996	NM_178452.6(DNAAF1):c.114C>T (p.Gly38=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 525446	NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)	DNAAF1 (C39R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2619761	NM_178452.6(DNAAF1):c.120G>C (p.Lys40Asn)	DNAAF1 (K40N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 759727	NM_178452.6(DNAAF1):c.120G>A (p.Lys40=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 947378	NM_178452.6(DNAAF1):c.124+6G>A	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2849298	NM_178452.6(DNAAF1):c.124+12C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2918171	NM_178452.6(DNAAF1):c.124+16C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 65498	NM_178452.6(DNAAF1):c.124+1536_353-2102del	DNAAF1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 13	GPathogenic
Select item 663406	NC_000016.10:g.(?_84148987)_(84150362_?)del	DNAAF1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2440893	NM_178452.6(DNAAF1):c.125-5T>C	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 696498	NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn)	DNAAF1 (K47N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1772673	NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly)	DNAAF1 (E48G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 455000	NM_178452.6(DNAAF1):c.147_148del (p.Ile49fs)	DNAAF1 (I49fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 3083296	NM_178452.6(DNAAF1):c.148T>C (p.Cys50Arg)	DNAAF1 (C50R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1773759	NM_178452.6(DNAAF1):c.148T>G (p.Cys50Gly)	DNAAF1 (C50G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 886428	NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr)	DNAAF1 (C50Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GUncertain significance
Select item 3083298	NM_178452.6(DNAAF1):c.151G>A (p.Val51Met)	DNAAF1 (V51M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2178017	NM_178452.6(DNAAF1):c.153G>C (p.Val51=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1517681	NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser)	DNAAF1 (G52S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2199911	NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp)	DNAAF1 (G52D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 3083299	NM_178452.6(DNAAF1):c.158C>T (p.Ser53Phe)	DNAAF1 (S53F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2612177	NM_178452.6(DNAAF1):c.165C>A (p.Asp55Glu)	DNAAF1 (D55E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1463830	NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp)	DNAAF1 (Y58D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 661310	NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr)	DNAAF1 (S60T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 320765	NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu)	DNAAF1 (Q61E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GConflicting classifications of pathogenicity
Select item 1781141	NM_178452.6(DNAAF1):c.183G>T (p.Gln61His)	DNAAF1 (Q61H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410278	NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)	DNAAF1 (Q64*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 242160	NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg)	DNAAF1 (Q64R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1419875	NM_178452.6(DNAAF1):c.192G>T (p.Gln64His)	DNAAF1 (Q64H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2550805	NM_178452.6(DNAAF1):c.194G>A (p.Ser65Asn)	DNAAF1 (S65N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2086850	NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys)	DNAAF1 (G66C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2693009	NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs)	DNAAF1 (G69fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 652542	NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser)	DNAAF1 (G72S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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