ClinVar for Gene (Select 352909) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 471

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382266	NM_001256715.2(DNAAF3):c.289G>C (p.Ala97Pro)	DNAAF3, DNAAF3-AS1 (A144P +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 3368126	NM_001256715.2(DNAAF3):c.1075G>T (p.Val359Phe)	DNAAF3, DNAAF3-AS1 (V305F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3272524	NM_001256715.2(DNAAF3):c.772G>A (p.Gly258Ser)	DNAAF3, DNAAF3-AS1 (G326S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272523	NM_001256715.2(DNAAF3):c.-21A>T	DNAAF3, DNAAF3-AS1 (D37V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272522	NM_001256715.2(DNAAF3):c.172C>T (p.Arg58Trp)	DNAAF3, DNAAF3-AS1 (R105W +2 more)	Single nucleotide variant (missense variant +1 more)	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 3272520	NM_001256715.2(DNAAF3):c.1167G>C (p.Met389Ile)	DNAAF3, DNAAF3-AS1 (M456I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3252259	NM_001256715.2(DNAAF3):c.301C>A (p.Pro101Thr)	DNAAF3, DNAAF3-AS1 (P101T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3221477	NM_001256715.2(DNAAF3):c.563G>A (p.Arg188His)	DNAAF3, DNAAF3-AS1 (R134H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221476	NM_001256715.2(DNAAF3):c.125A>T (p.His42Leu)	DNAAF3, DNAAF3-AS1 (H110L +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221475	NM_001256715.2(DNAAF3):c.1360T>G (p.Phe454Val)	DNAAF3, DNAAF3-AS1 (F400V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221474	NM_001256715.2(DNAAF3):c.1218C>G (p.Asn406Lys)	DNAAF3, DNAAF3-AS1 (N352K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221473	NM_001256715.2(DNAAF3):c.1131C>G (p.Asn377Lys)	DNAAF3, DNAAF3-AS1 (N323K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3221472	NM_001256715.2(DNAAF3):c.939C>A (p.Asn313Lys)	DNAAF3, DNAAF3-AS1 (N259K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083343	NM_001256715.2(DNAAF3):c.767C>T (p.Ala256Val)	DNAAF3, DNAAF3-AS1 (A256V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083341	NM_001256715.2(DNAAF3):c.655G>T (p.Asp219Tyr)	DNAAF3, DNAAF3-AS1 (D266Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083340	NM_001256715.2(DNAAF3):c.634G>C (p.Asp212His)	DNAAF3, DNAAF3-AS1 (D212H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083339	NM_001256715.2(DNAAF3):c.-78G>A	DNAAF3, DNAAF3-AS1 (C18Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083338	NM_001256715.2(DNAAF3):c.290C>T (p.Ala97Val)	DNAAF3, DNAAF3-AS1 (A144V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3064740	NM_001256715.2(DNAAF3):c.856G>A (p.Gly286Ser)	DNAAF3, DNAAF3-AS1 (G232S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 3018747	NM_001256715.2(DNAAF3):c.912+7G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3005604	NM_001256715.2(DNAAF3):c.1206A>T (p.Ala402=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3002236	NM_001256715.2(DNAAF3):c.618C>T (p.Arg206=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2994964	NM_001256715.2(DNAAF3):c.481-8C>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2984947	NM_001256715.2(DNAAF3):c.912+13G>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2978334	NM_001256715.2(DNAAF3):c.855C>T (p.Phe285=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2974527	NM_001256715.2(DNAAF3):c.381C>T (p.Ala127=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2973680	NM_001256715.2(DNAAF3):c.664-8C>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2965682	NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys)	DNAAF3, DNAAF3-AS1 (E378K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2965159	NM_001256715.2(DNAAF3):c.359C>T (p.Ala120Val)	DNAAF3, DNAAF3-AS1 (A188V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2961596	NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)	DNAAF3, DNAAF3-AS1 (Q366fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2958324	NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)	DNAAF3, DNAAF3-AS1 (E405D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2916392	NM_001256715.2(DNAAF3):c.42del (p.Ser15fs)	DNAAF3, DNAAF3-AS1 (S15fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2914479	NM_001256715.2(DNAAF3):c.891G>C (p.Thr297=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2913410	NM_001256715.2(DNAAF3):c.1164-5T>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2912677	NM_001256715.2(DNAAF3):c.663+20G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2908694	NM_001256715.2(DNAAF3):c.912+13del	DNAAF3, DNAAF3-AS1	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2907546	NM_001256715.2(DNAAF3):c.619G>A (p.Gly207Ser)	DNAAF3, DNAAF3-AS1 (G275S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2902340	NM_001256715.2(DNAAF3):c.498C>T (p.Ala166=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2894388	NM_001256715.2(DNAAF3):c.-38G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2876011	NM_001256715.2(DNAAF3):c.1182C>T (p.Ile394=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2874168	NM_001256715.2(DNAAF3):c.664-13C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2862030	NM_001256715.2(DNAAF3):c.1031C>G (p.Pro344Arg)	DNAAF3, DNAAF3-AS1 +1 more (P344R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2857119	NM_001256715.2(DNAAF3):c.323-11TC[2]	DNAAF3, DNAAF3-AS1	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848964	NM_001256715.2(DNAAF3):c.1044_1048+13del	DNAAF3, DNAAF3-AS1 +1 more	Deletion (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2848365	NM_001256715.2(DNAAF3):c.1238+14G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2843209	NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)	DNAAF3, DNAAF3-AS1 (A398T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2837928	NM_001256715.2(DNAAF3):c.790-12C>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2828242	NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)	DNAAF3, DNAAF3-AS1 (Q150* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2827008	NM_001256715.2(DNAAF3):c.246T>C (p.Asn82=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2826795	NM_001256715.2(DNAAF3):c.1163+8G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2826785	NM_001256715.2(DNAAF3):c.323-6C>T	DNAAF3-AS1, DNAAF3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2826535	NM_001256715.2(DNAAF3):c.86-68T>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2803666	NM_001256715.2(DNAAF3):c.458G>A (p.Trp153Ter)	DNAAF3-AS1, DNAAF3 (W221* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2779628	NM_001256715.2(DNAAF3):c.340C>T (p.Leu114=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2776273	NM_001256715.2(DNAAF3):c.384C>T (p.Ala128=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2773096	NM_001256715.2(DNAAF3):c.85+17A>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2748901	NM_001256715.2(DNAAF3):c.357C>G (p.Asn119Lys)	DNAAF3, DNAAF3-AS1 (N119K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2748894	NM_001256715.2(DNAAF3):c.664-2_681dup	DNAAF3, DNAAF3-AS1	Duplication (splice acceptor variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2746903	NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2741865	NM_001256715.2(DNAAF3):c.51G>A (p.Trp17Ter)	DNAAF3, DNAAF3-AS1 (W64* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2741842	NM_001256715.2(DNAAF3):c.576G>C (p.Ser192=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2732545	NM_001256715.2(DNAAF3):c.-68G>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2729173	NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2727886	NM_001256715.2(DNAAF3):c.663+11C>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2727666	NM_001256715.2(DNAAF3):c.40G>C (p.Val14Leu)	DNAAF3, DNAAF3-AS1 (V61L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2723701	NM_001256715.2(DNAAF3):c.117T>C (p.Asp39=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2719335	NM_001256715.2(DNAAF3):c.1164-8C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2712918	NM_001256715.2(DNAAF3):c.632G>A (p.Trp211Ter)	DNAAF3, DNAAF3-AS1 (W211* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2707881	NM_001256715.2(DNAAF3):c.323-5dup	DNAAF3, DNAAF3-AS1	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2698489	NM_001256715.2(DNAAF3):c.999C>T (p.Asp333=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2695211	NM_001256715.2(DNAAF3):c.72C>T (p.Asp24=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2690909	NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)	DNAAF3, DNAAF3-AS1 (V126fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 2	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2683830	NM_001256715.2(DNAAF3):c.331G>A (p.Glu111Lys)	DNAAF3, DNAAF3-AS1 +1 more (E111K +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4	GLikely pathogenic
Select item 2683520	NM_001256715.2(DNAAF3):c.86-66T>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2664320	NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)	DNAAF3, DNAAF3-AS1 (Q26* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 2	GPathogenic
Select item 2650514	NM_001256715.2(DNAAF3):c.1062G>C (p.Pro354=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618143	NM_001256715.2(DNAAF3):c.596G>A (p.Gly199Asp)	DNAAF3, DNAAF3-AS1 (G246D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2607084	NM_001256715.2(DNAAF3):c.938A>C (p.Asn313Thr)	DNAAF3, DNAAF3-AS1 (N259T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2571057	NM_001256715.2(DNAAF3):c.678C>A (p.His226Gln)	DNAAF3, DNAAF3-AS1 (H172Q +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2489624	NM_001256715.2(DNAAF3):c.436C>A (p.Arg146Ser)	DNAAF3, DNAAF3-AS1 (R92S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2474009	NM_001256715.2(DNAAF3):c.1306G>A (p.Ala436Thr)	DNAAF3, DNAAF3-AS1 (A483T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2454171	NM_001256715.2(DNAAF3):c.480+5C>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron 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 2440894	NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)	DNAAF3, DNAAF3-AS1 (G384* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 2424027	NC_000019.9:g.(?_55644283)_(55678016_?)del	DNAAF3, TNNI3 +1 more	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 2419354	NM_001256715.2(DNAAF3):c.490C>T (p.Arg164Trp)	DNAAF3, DNAAF3-AS1 (R110W +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2417904	NM_001256715.2(DNAAF3):c.85+3G>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2397721	NM_001256715.2(DNAAF3):c.1088C>T (p.Pro363Leu)	DNAAF3, DNAAF3-AS1 (P363L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2338274	NM_001256715.2(DNAAF3):c.107C>T (p.Ser36Phe)	DNAAF3, DNAAF3-AS1 (S104F +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 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 2275268	NM_001256715.2(DNAAF3):c.1273G>C (p.Gly425Arg)	DNAAF3, DNAAF3-AS1 (G472R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2267161	NM_001256715.2(DNAAF3):c.1108C>T (p.Leu370Phe)	DNAAF3, DNAAF3-AS1 (L316F +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2253923	NM_001256715.2(DNAAF3):c.1214G>A (p.Gly405Glu)	DNAAF3, DNAAF3-AS1 (G351E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

<< First< Prev

Page of 5