ClinVar for Gene (Select 83544) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353166	NM_031427.4(DNAL1):c.4-2del	DNAL1	Deletion (splice acceptor variant)	DNAL1-related disorder	GLikely benign
Select item 3273140	NM_031427.4(DNAL1):c.340A>G (p.Met114Val)	DNAL1 (M75V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244015	NC_000014.8:g.(?_74111743)_(74551097_?)del	ALDH6A1, BBOF1 +8 more	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 3084614	NM_031427.4(DNAL1):c.362A>G (p.Tyr121Cys)	DNAL1 (Y82C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017587	NM_031427.4(DNAL1):c.265-12G>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 3017512	NM_031427.4(DNAL1):c.3+8C>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 3015499	NM_031427.4(DNAL1):c.498A>T (p.Ala166=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 3008891	NM_031427.4(DNAL1):c.321G>A (p.Lys107=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2976167	NM_031427.4(DNAL1):c.279C>T (p.Asp93=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2955850	NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter)	DNAL1 (W60* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 16	GPathogenic
Select item 2832689	NM_031427.4(DNAL1):c.265-15T>A	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2797362	NM_031427.4(DNAL1):c.42+13G>A	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2731048	NM_031427.4(DNAL1):c.483C>T (p.Asn161=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2719047	NM_031427.4(DNAL1):c.349T>C (p.Leu117=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2671843	NM_031427.4(DNAL1):c.23_24del (p.Lys8fs)	DNAL1 (K8fs)	Deletion (5 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2426971	NC_000014.8:g.(?_74153942)_(74156238_?)del	DNAL1	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 2414518	NM_031427.4(DNAL1):c.153-20T>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2317773	NM_031427.4(DNAL1):c.469T>G (p.Ser157Ala)	DNAL1 (S118A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176179	NM_031427.4(DNAL1):c.200A>G (p.Asn67Ser)	DNAL1 (N28S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 2098165	NM_031427.4(DNAL1):c.559G>A (p.Glu187Lys)	DNAL1 (E187K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 2084251	NM_031427.4(DNAL1):c.209-13C>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2063010	NM_031427.4(DNAL1):c.152+14T>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2041286	NM_031427.4(DNAL1):c.209-12_209-8del	DNAL1	Microsatellite (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 2021509	NM_031427.4(DNAL1):c.516del (p.Lys172fs)	DNAL1 (K133fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 2004901	NM_031427.4(DNAL1):c.16A>G (p.Thr6Ala)	DNAL1 (T6A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 1985370	NM_031427.4(DNAL1):c.264+13TTA[2]	DNAL1	Microsatellite (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1963849	NM_031427.4(DNAL1):c.3+17C>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1770112	NM_031427.4(DNAL1):c.132G>A (p.Leu44=)	DNAL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1744807	NM_031427.4(DNAL1):c.501C>G (p.Thr167=)	DNAL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1687458	NM_031427.4(DNAL1):c.263T>C (p.Leu88Pro)	DNAL1 (L49P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 1625697	NM_031427.4(DNAL1):c.129C>T (p.Ser43=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1598304	NM_031427.4(DNAL1):c.265-17A>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1592674	NM_031427.4(DNAL1):c.4-19C>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1568671	NM_031427.4(DNAL1):c.330G>A (p.Gly110=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1550877	NM_031427.4(DNAL1):c.42+8C>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1427773	NM_031427.4(DNAL1):c.532+11C>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1378690	NM_031427.4(DNAL1):c.136A>G (p.Met46Val)	DNAL1 (M7V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 1295016	NM_031427.4(DNAL1):c.4-5del	DNAL1	Deletion (intron variant)	not provided	GBenign
Select item 1290438	NM_031427.4(DNAL1):c.152+223del	DNAL1	Deletion (intron variant)	not provided	GBenign
Select item 1288126	NM_031427.4(DNAL1):c.264+142A>G	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287465	NM_031427.3(DNAL1):c.-155C>T	DNAL1	Single nucleotide variant	not provided	GBenign
Select item 1281338	NM_031427.4(DNAL1):c.*200C>G	DNAL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280480	NM_031427.4(DNAL1):c.533-153G>C	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276298	NM_031427.4(DNAL1):c.392-312G>T	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264143	NM_031427.4(DNAL1):c.4-81ATAC[7]	DNAL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261776	NM_031427.4(DNAL1):c.264+90A>G	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261432	NM_031427.4(DNAL1):c.208+200A>G	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260736	NM_031427.4(DNAL1):c.532+27A>G	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259209	NM_031427.4(DNAL1):c.152+221_152+223del	DNAL1	Deletion (intron variant)	not provided	GBenign
Select item 1259153	NM_031427.4(DNAL1):c.42+126T>C	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259040	NM_031427.4(DNAL1):c.532+98C>T	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253164	NM_031427.4(DNAL1):c.391+66A>G	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220901	NM_031427.4(DNAL1):c.43-116G>A	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181919	NM_031427.4(DNAL1):c.42+173T>G	DNAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1109663	NM_031427.4(DNAL1):c.153-7T>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 1004436	NM_031427.4(DNAL1):c.530A>G (p.Asp177Gly)	DNAL1 (D138G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 940642	NM_031427.4(DNAL1):c.34G>A (p.Ala12Thr)	DNAL1 (A12T)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 939135	NM_031427.4(DNAL1):c.264+4G>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 741313	NM_031427.4(DNAL1):c.4-5T>A	DNAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708249	NM_031427.4(DNAL1):c.43-9T>C	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 704701	NM_031427.4(DNAL1):c.3+9C>A	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 695251	NM_031427.4(DNAL1):c.6G>A (p.Ala2=)	DNAL1	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GLikely benign
Select item 662859	NC_000014.9:g.(?_73671522)_(73671617_?)del	DNAL1	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 661003	NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser)	DNAL1 (A158S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	COQ6, DNAL1 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 656064	NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del)	DNAL1 (E58del +1 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 655692	NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln)	DNAL1 (E22Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 639680	NM_031427.4(DNAL1):c.503del (p.Lys168fs)	DNAL1 (K168fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 578088	NM_031427.4(DNAL1):c.35C>T (p.Ala12Val)	DNAL1 (A12V)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 539288	NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg)	DNAL1 (I74R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 497477	NM_031427.4(DNAL1):c.517C>T (p.Leu173=)	DNAL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 471908	NM_031427.4(DNAL1):c.533-2A>G	DNAL1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 16	GUncertain significance
Select item 471907	NM_031427.4(DNAL1):c.234A>G (p.Gly78=)	DNAL1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 417385	NC_000014.9:g.(?_73671542)_(73671597_?)del	DNAL1	Deletion	Primary ciliary dyskinesia 16	GUncertain significance
Select item 414001	NM_031427.4(DNAL1):c.4-10T>G	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 414000	NM_031427.4(DNAL1):c.4-4A>T	DNAL1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 16	GLikely benign
Select item 406536	NM_031427.4(DNAL1):c.384del (p.Asp129fs)	DNAL1 (D90fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 16	GPathogenic
Select item 406527	NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter)	DNAL1 (W162* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 16	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 314156	NM_031427.4(DNAL1):c.7710_7711dup	DNAL1	Duplication (3 prime UTR variant)	Primary ciliary dyskinesia	GLikely benign
Select item 314151	NM_031427.4(DNAL1):c.7414_7419del	DNAL1	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314142	NM_031427.4(DNAL1):c.*7017dup	DNAL1	Duplication (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314134	NM_031427.4(DNAL1):c.6341_6343del	DNAL1	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314128	NM_031427.4(DNAL1):c.*6216dup	DNAL1	Duplication (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314127	NM_031427.4(DNAL1):c.6163_6164insTGCACG	DNAL1	Insertion (3 prime UTR variant)	Primary ciliary dyskinesia	GLikely benign
Select item 314125	NM_031427.4(DNAL1):c.6161_6162insCA	DNAL1	Insertion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314124	NM_031427.4(DNAL1):c.6147_6148insCG	DNAL1	Insertion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314120	NM_031427.4(DNAL1):c.*6138TG[10]	DNAL1	Microsatellite (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314119	NM_031427.4(DNAL1):c.*6138TG[12]	DNAL1	Microsatellite (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 314118	NM_031427.4(DNAL1):c.*6138TG[16]	DNAL1	Microsatellite (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314117	NM_031427.4(DNAL1):c.*6138TG[15]	DNAL1	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 314116	NM_031427.4(DNAL1):c.*6138TG[14]	DNAL1	Microsatellite (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314115	NM_031427.4(DNAL1):c.*6137del	DNAL1	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 314113	NM_031427.4(DNAL1):c.*6016del	DNAL1	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GBenign

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