"Ambry Genetics"[submitter] AND "ATL3"[gene] - ClinVar

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 707176	NM_015459.5(ATL3):c.1552A>G (p.Ile518Val)	ATL3 (I500V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 649263	NM_015459.5(ATL3):c.1539G>A (p.Gln513=)	ATL3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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)	not provided +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 474835	NM_015459.5(ATL3):c.1501G>A (p.Gly501Arg)	ATL3 (G483R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +2 more	GBenign/Likely benign
Select item 1773732	NM_015459.5(ATL3):c.1489C>T (p.Arg497Cys)	ATL3 (R479C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 541678	NM_015459.5(ATL3):c.1451T>C (p.Leu484Pro)	ATL3 (L466P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 474834	NM_015459.5(ATL3):c.1434A>G (p.Gly478=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F +2 more	GBenign/Likely benign
Select item 1435475	NM_015459.5(ATL3):c.1413G>T (p.Gln471His)	ATL3 (Q471H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 659202	NM_015459.5(ATL3):c.1346C>T (p.Thr449Met)	ATL3 (T449M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Neuropathy, hereditary sensory, type 1F +1 more	GBenign/Likely benign
Select item 1769970	NM_015459.5(ATL3):c.1324C>T (p.Arg442Ter)	ATL3 (R424* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1036470	NM_015459.5(ATL3):c.1234C>T (p.Arg412Cys)	ATL3, LOC126861231 (R394C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2269884	NM_015459.5(ATL3):c.1190A>G (p.His397Arg)	ATL3, LOC126861231 (H379R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 838683	NM_015459.5(ATL3):c.1165G>A (p.Glu389Lys)	ATL3, LOC126861231 (E371K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GConflicting classifications of pathogenicity
Select item 1737549	NM_015459.5(ATL3):c.1163G>A (p.Cys388Tyr)	ATL3, LOC126861231 (C370Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2016394	NM_015459.5(ATL3):c.1153G>A (p.Glu385Lys)	ATL3, LOC126861231 (E367K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 2205012	NM_015459.5(ATL3):c.1144A>C (p.Ile382Leu)	ATL3, LOC126861231 (I382L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403285	NM_015459.5(ATL3):c.1138C>T (p.Pro380Ser)	ATL3, LOC126861231 (P380S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1795990	NM_015459.5(ATL3):c.1114G>T (p.Gly372Trp)	ATL3, LOC126861231 (G354W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1795950	NM_015459.5(ATL3):c.1114G>A (p.Gly372Arg)	ATL3, LOC126861231 (G354R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1509277	NM_015459.5(ATL3):c.1108G>T (p.Val370Phe)	ATL3, LOC126861231 (V352F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1790885	NM_015459.5(ATL3):c.1097A>G (p.Asn366Ser)	ATL3 (N348S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775288	NM_015459.5(ATL3):c.1045G>A (p.Glu349Lys)	ATL3 (E349K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 1021234	NM_015459.5(ATL3):c.1034A>T (p.Gln345Leu)	ATL3 (Q327L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 951491	NM_015459.5(ATL3):c.968A>C (p.Glu323Ala)	ATL3 (E323A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 1767772	NM_015459.5(ATL3):c.967G>A (p.Glu323Lys)	ATL3 (E305K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1042296	NM_015459.5(ATL3):c.949dup (p.Thr317fs)	ATL3 (T299fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 582189	NM_015459.5(ATL3):c.940T>C (p.Ser314Pro)	ATL3 (S296P +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 1056650	NM_015459.5(ATL3):c.935A>G (p.Asn312Ser)	ATL3 (N294S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 577298	NM_015459.5(ATL3):c.911C>T (p.Ser304Phe)	ATL3 (S286F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 573714	NM_015459.5(ATL3):c.896A>T (p.Tyr299Phe)	ATL3 (Y299F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 541680	NM_015459.5(ATL3):c.854T>C (p.Ile285Thr)	ATL3 (I267T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 863744	NM_015459.5(ATL3):c.850+5G>A	ATL3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1760638	NM_015459.5(ATL3):c.778G>A (p.Val260Ile)	ATL3 (V242I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339004	NM_015459.5(ATL3):c.745G>A (p.Val249Ile)	ATL3 (V231I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541681	NM_015459.5(ATL3):c.712G>A (p.Val238Met)	ATL3 (V238M +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 1014961	NM_015459.5(ATL3):c.710A>G (p.Gln237Arg)	ATL3 (Q219R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 970507	NM_015459.5(ATL3):c.685A>G (p.Met229Val)	ATL3 (M229V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 384089	NM_015459.5(ATL3):c.661T>G (p.Tyr221Asp)	ATL3 (Y203D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +2 more	GUncertain significance
Select item 1754065	NM_015459.5(ATL3):c.652C>T (p.Pro218Ser)	ATL3 (P218S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 474840	NM_015459.5(ATL3):c.642T>C (p.Asp214=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F +1 more	GBenign/Likely benign
Select item 1753228	NM_015459.5(ATL3):c.638G>C (p.Arg213Thr)	ATL3 (R213T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970506	NM_015459.5(ATL3):c.637A>G (p.Arg213Gly)	ATL3 (R213G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1753055	NM_015459.5(ATL3):c.635T>A (p.Val212Asp)	ATL3 (V194D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1114445	NM_015459.5(ATL3):c.593A>T (p.Asp198Val)	ATL3 (D180V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1493838	NM_015459.5(ATL3):c.581G>T (p.Arg194Leu)	ATL3 (R176L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 541677	NM_015459.5(ATL3):c.581G>A (p.Arg194His)	ATL3 (R176H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 860253	NM_015459.5(ATL3):c.493A>G (p.Met165Val)	ATL3 (M165V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1046127	NM_015459.5(ATL3):c.484C>G (p.Leu162Val)	ATL3 (L144V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1741864	NM_015459.5(ATL3):c.460A>G (p.Lys154Glu)	ATL3 (K136E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 644572	NM_015459.5(ATL3):c.404A>C (p.Lys135Thr)	ATL3 (K117T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1390637	NM_015459.5(ATL3):c.385_387del (p.Glu129del)	ATL3 (E111del +1 more)	Deletion (inframe_deletion)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 474838	NM_015459.5(ATL3):c.373G>A (p.Val125Ile)	ATL3 (V107I +1 more)	Single nucleotide variant (missense variant)	ATL3-related condition +3 more	GBenign/Likely benign
Select item 1733771	NM_015459.5(ATL3):c.366G>C (p.Trp122Cys)	ATL3 (W104C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1731156	NM_015459.5(ATL3):c.340C>A (p.Pro114Thr)	ATL3 (P96T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 661890	NM_015459.5(ATL3):c.267A>C (p.Glu89Asp)	ATL3 (E89D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1791459	NM_015459.5(ATL3):c.244C>T (p.Arg82Ter)	ATL3 (R82* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2617150	NM_015459.5(ATL3):c.226A>G (p.Ile76Val)	ATL3 (I58V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 856784	NM_015459.5(ATL3):c.155A>G (p.Gln52Arg)	ATL3 (Q52R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 806688	NM_015459.5(ATL3):c.138G>C (p.Leu46Phe)	ATL3 (L28F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +2 more	GConflicting classifications of pathogenicity
Select item 1766499	NM_015459.5(ATL3):c.92T>C (p.Leu31Ser)	ATL3 (L13S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541690	NM_015459.5(ATL3):c.47-4A>T	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F +1 more	GLikely benign
Select item 760358	NM_015459.5(ATL3):c.47-6A>T	ATL3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1741819	NM_015459.5(ATL3):c.46+1G>A	ATL3	Single nucleotide variant (intron variant +1 more)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 941042	NM_015459.5(ATL3):c.46G>C (p.Asp16His)	ATL3 (D16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1741030	NM_015459.5(ATL3):c.44C>T (p.Ala15Val)	ATL3 (A15V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 582603	NM_015459.5(ATL3):c.22G>A (p.Ala8Thr)	ATL3 (A8T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 541683	NM_015459.5(ATL3):c.10C>T (p.Pro4Ser)	ATL3 (P4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 75