ATL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 474831	NC_000011.10:g.(?_63629299)_(63629425_?)del	ATL3	Deletion	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 3034341	NM_015459.5(ATL3):c.*10G>A	ATL3	Single nucleotide variant (3 prime UTR variant)	ATL3-related disorder	GLikely benign
Select item 1541260	NM_015459.5(ATL3):c.1623A>G (p.Gln541=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2848727	NM_015459.5(ATL3):c.1620T>A (p.Ala540=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1776545	NM_015459.5(ATL3):c.1618G>T (p.Ala540Ser)	ATL3 (A522S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541684	NM_015459.5(ATL3):c.1609G>A (p.Asp537Asn)	ATL3 (D537N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GLikely benign
Select item 2722596	NM_015459.5(ATL3):c.1605C>T (p.Ser535=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1398777	NM_015459.5(ATL3):c.1602A>G (p.Pro534=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 474837	NM_015459.5(ATL3):c.1599A>G (p.Arg533=)	ATL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 837342	NM_015459.5(ATL3):c.1598G>A (p.Arg533Lys)	ATL3 (R533K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 541692	NM_015459.5(ATL3):c.1587A>G (p.Ala529=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2577115	NM_015459.5(ATL3):c.1582dup (p.Asp528fs)	ATL3 (D510fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2747047	NM_015459.5(ATL3):c.1573A>G (p.Thr525Ala)	ATL3 (T507A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 649793	NM_015459.5(ATL3):c.1565C>T (p.Thr522Ile)	ATL3 (T504I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1063757	NM_015459.5(ATL3):c.1556G>A (p.Gly519Asp)	ATL3 (G501D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1775145	NM_015459.5(ATL3):c.1555G>A (p.Gly519Ser)	ATL3 (G501S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761209	NM_015459.5(ATL3):c.1554C>T (p.Ile518=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 707176	NM_015459.5(ATL3):c.1552A>G (p.Ile518Val)	ATL3 (I500V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GLikely benign
Select item 835708	NM_015459.5(ATL3):c.1550A>G (p.His517Arg)	ATL3 (H499R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1356223	NM_015459.5(ATL3):c.1543T>G (p.Ser515Ala)	ATL3 (S497A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2731185	NM_015459.5(ATL3):c.1540-12G>T	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1598755	NM_015459.5(ATL3):c.1540-17T>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GBenign
Select item 1665952	NM_015459.5(ATL3):c.1540-18A>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1300724	NM_015459.5(ATL3):c.1539+239dup	ATL3	Duplication (intron variant)	not provided	GLikely benign
Select item 1300681	NM_015459.5(ATL3):c.1539+238_1539+239dup	ATL3	Duplication (intron variant)	not provided	GLikely benign
Select item 1292580	NM_015459.5(ATL3):c.1539+239del	ATL3	Deletion (intron variant)	not provided	GBenign
Select item 1237757	NM_015459.5(ATL3):c.1539+14_1539+16del	ATL3	Microsatellite (intron variant)	Neuropathy, hereditary sensory, type 1F +1 more	GBenign
Select item 1564798	NM_015459.5(ATL3):c.1539+13G>A	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 649263	NM_015459.5(ATL3):c.1539G>A (p.Gln513=)	ATL3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 649258	NM_015459.5(ATL3):c.1533G>A (p.Leu511=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 3369806	NM_015459.5(ATL3):c.1526A>G (p.Tyr509Cys)	ATL3 (Y491C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915248	NM_015459.5(ATL3):c.1526A>C (p.Tyr509Ser)	ATL3 (Y491S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2093309	NM_015459.5(ATL3):c.1524A>G (p.Ala508=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1774474	NM_015459.5(ATL3):c.1523C>T (p.Ala508Val)	ATL3 (A490V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541688	NM_015459.5(ATL3):c.1522G>A (p.Ala508Thr)	ATL3 (A490T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474836	NM_015459.5(ATL3):c.1521C>T (p.Ala507=)	ATL3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1774066	NM_015459.5(ATL3):c.1504G>T (p.Ala502Ser)	ATL3 (A484S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 640627	NM_015459.5(ATL3):c.1500_1502del (p.Gly501del)	ATL3 (G483del +1 more)	Deletion (inframe_deletion)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2826040	NM_015459.5(ATL3):c.1501G>T (p.Gly501Ter)	ATL3 (G483* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 474835	NM_015459.5(ATL3):c.1501G>A (p.Gly501Arg)	ATL3 (G483R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GBenign/Likely benign
Select item 1631858	NM_015459.5(ATL3):c.1500C>T (p.Gly500=)	ATL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1154064	NM_015459.5(ATL3):c.1494G>A (p.Glu498=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 848511	NM_015459.5(ATL3):c.1490G>T (p.Arg497Leu)	ATL3 (R497L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 845302	NM_015459.5(ATL3):c.1490G>A (p.Arg497His)	ATL3 (R479H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1773732	NM_015459.5(ATL3):c.1489C>T (p.Arg497Cys)	ATL3 (R479C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 1061709	NM_015459.5(ATL3):c.1485A>G (p.Gln495=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 639122	NM_015459.5(ATL3):c.1475A>T (p.Tyr492Phe)	ATL3 (Y474F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1487731	NM_015459.5(ATL3):c.1460G>A (p.Trp487Ter)	ATL3 (W469* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1594090	NM_015459.5(ATL3):c.1458C>T (p.Thr486=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1036199	NM_015459.5(ATL3):c.1457C>T (p.Thr486Ile)	ATL3 (T486I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1585720	NM_015459.5(ATL3):c.1452C>T (p.Leu484=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 541678	NM_015459.5(ATL3):c.1451T>C (p.Leu484Pro)	ATL3 (L466P +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GConflicting classifications of pathogenicity
Select item 2880301	NM_015459.5(ATL3):c.1440G>C (p.Leu480=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1533092	NM_015459.5(ATL3):c.1440G>A (p.Leu480=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F +1 more	GLikely benign
Select item 741831	NM_015459.5(ATL3):c.1437A>C (p.Leu479=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1353431	NM_015459.5(ATL3):c.1436T>A (p.Leu479Gln)	ATL3 (L479Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1148336	NM_015459.5(ATL3):c.1435C>T (p.Leu479=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 474834	NM_015459.5(ATL3):c.1434A>G (p.Gly478=)	ATL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1977027	NM_015459.5(ATL3):c.1427T>G (p.Met476Arg)	ATL3 (M458R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1008466	NM_015459.5(ATL3):c.1426A>G (p.Met476Val)	ATL3 (M458V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 387129	NM_015459.5(ATL3):c.1422C>G (p.Asn474Lys)	ATL3 (N456K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1947277	NM_015459.5(ATL3):c.1419C>G (p.Phe473Leu)	ATL3 (F455L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1595839	NM_015459.5(ATL3):c.1419C>T (p.Phe473=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1435475	NM_015459.5(ATL3):c.1413G>T (p.Gln471His)	ATL3 (Q471H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GConflicting classifications of pathogenicity
Select item 2020499	NM_015459.5(ATL3):c.1407A>G (p.Val469=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1622448	NM_015459.5(ATL3):c.1395T>G (p.Gly465=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 705098	NM_015459.5(ATL3):c.1395T>C (p.Gly465=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2912472	NM_015459.5(ATL3):c.1391dup (p.Gly465fs)	ATL3 (G465fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 656136	NM_015459.5(ATL3):c.1392A>G (p.Ile464Met)	ATL3 (I446M +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 643677	NM_015459.5(ATL3):c.1390A>G (p.Ile464Val)	ATL3 (I446V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2977040	NM_015459.5(ATL3):c.1382C>G (p.Thr461Ser)	ATL3 (T443S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1046971	NM_015459.5(ATL3):c.1382C>T (p.Thr461Ile)	ATL3 (T443I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1410406	NM_015459.5(ATL3):c.1378C>T (p.Leu460Phe)	ATL3 (L442F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 474833	NM_015459.5(ATL3):c.1378C>G (p.Leu460Val)	ATL3 (L442V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 474832	NM_015459.5(ATL3):c.1374A>G (p.Ser458=)	ATL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2198593	NM_015459.5(ATL3):c.1371C>T (p.Ala457=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GBenign
Select item 1012576	NM_015459.5(ATL3):c.1370C>T (p.Ala457Val)	ATL3 (A439V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2963897	NM_015459.5(ATL3):c.1364A>T (p.Tyr455Phe)	ATL3 (Y437F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2581840	NM_015459.5(ATL3):c.1348G>A (p.Gly450Ser)	ATL3 (G432S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724054	NM_015459.5(ATL3):c.1347G>T (p.Thr449=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2086176	NM_015459.5(ATL3):c.1347G>A (p.Thr449=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1354400	NM_015459.5(ATL3):c.1346C>A (p.Thr449Lys)	ATL3 (T431K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 659202	NM_015459.5(ATL3):c.1346C>T (p.Thr449Met)	ATL3 (T449M +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 1770451	NM_015459.5(ATL3):c.1345A>G (p.Thr449Ala)	ATL3 (T431A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541691	NM_015459.5(ATL3):c.1329C>G (p.Thr443=)	ATL3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 576489	NM_015459.5(ATL3):c.1325G>A (p.Arg442Gln)	ATL3 (R424Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1769970	NM_015459.5(ATL3):c.1324C>T (p.Arg442Ter)	ATL3 (R424* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F +1 more	GConflicting classifications of pathogenicity
Select item 1104442	NM_015459.5(ATL3):c.1314C>T (p.Phe438=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1024318	NM_015459.5(ATL3):c.1312T>A (p.Phe438Ile)	ATL3 (F420I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2193194	NM_015459.5(ATL3):c.1308C>T (p.Asn436=)	ATL3, LOC126861231	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2977829	NM_015459.5(ATL3):c.1305G>T (p.Lys435Asn)	ATL3, LOC126861231 (K417N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2572737	NM_015459.5(ATL3):c.1295A>G (p.Asn432Ser)	ATL3, LOC126861231 (N414S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189669	NM_015459.5(ATL3):c.1286G>A (p.Cys429Tyr)	ATL3, LOC126861231 (C411Y +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 3019058	NM_015459.5(ATL3):c.1257G>A (p.Glu419=)	LOC126861231, ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1119740	NM_015459.5(ATL3):c.1251G>A (p.Leu417=)	ATL3, LOC126861231	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 1001332	NM_015459.5(ATL3):c.1242G>T (p.Gln414His)	ATL3, LOC126861231 (Q396H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2965614	NM_015459.5(ATL3):c.1235G>A (p.Arg412His)	ATL3, LOC126861231 (R394H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 1036470	NM_015459.5(ATL3):c.1234C>T (p.Arg412Cys)	ATL3, LOC126861231 (R394C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 960342	NM_015459.5(ATL3):c.1233T>G (p.Phe411Leu)	ATL3, LOC126861231 (F393L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance

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