"GeneDx"[submitter] AND "ATL3"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1179328	NM_015459.5(ATL3):c.1108-207T>C	ATL3, LOC126861231	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293182	NM_015459.5(ATL3):c.1108-232G>A	ATL3, LOC126861231	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293188	NM_015459.5(ATL3):c.1107+186TTTTG[5]	ATL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1166867	NM_015459.5(ATL3):c.1107+5G>A	ATL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238299	NM_015459.5(ATL3):c.1035+128dup	ATL3	Duplication (intron variant)	not provided	GBenign
Select item 3372296	NM_015459.5(ATL3):c.1002AGA[1] (p.Glu335del)	ATL3 (E317del +1 more)	Microsatellite	not provided	GUncertain significance
Select item 474841	NM_015459.5(ATL3):c.978+7dup	ATL3	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1800616	NM_015459.5(ATL3):c.851-67G>A	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851199	NM_015459.5(ATL3):c.774C>T (p.Ser258=)	ATL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 541689	NM_015459.5(ATL3):c.712-8A>G	ATL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1293186	NM_015459.5(ATL3):c.712-18C>G	ATL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1326033	NM_015459.5(ATL3):c.712-110A>G	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 657056	NM_015459.5(ATL3):c.668A>G (p.Tyr223Cys)	ATL3 (Y205C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F +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)	not provided +2 more	GUncertain significance
Select item 1290721	NM_015459.5(ATL3):c.619-108_619-107insT	ATL3	Insertion (intron variant)	not provided	GBenign
Select item 1253778	NM_015459.5(ATL3):c.619-110_619-109insAGTACG	ATL3	Insertion (intron variant)	not provided	GBenign
Select item 1293181	NM_015459.5(ATL3):c.619-143dup	ATL3	Duplication (intron variant)	not provided	GBenign
Select item 1267805	NM_015459.5(ATL3):c.619-122del	ATL3	Deletion (intron variant)	not provided	GBenign
Select item 1321791	NM_015459.5(ATL3):c.619-165C>T	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258674	NM_015459.5(ATL3):c.618+198G>A	ATL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371878	NM_015459.5(ATL3):c.589A>G (p.Met197Val)	ATL3 (M179V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691664	NM_015459.5(ATL3):c.562-117C>A	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343041	NM_015459.5(ATL3):c.561+158G>A	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600242	NM_015459.5(ATL3):c.511-11T>C	ATL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1263608	NM_015459.5(ATL3):c.510+63G>A	ATL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2576697	NM_015459.5(ATL3):c.444C>A (p.Asp148Glu)	ATL3 (D130E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474839	NM_015459.5(ATL3):c.418C>T (p.Leu140=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F +1 more	GBenign/Likely benign
Select item 1300945	NM_015459.5(ATL3):c.406-150del	ATL3	Deletion (intron variant)	not provided	GLikely benign
Select item 851518	NM_015459.5(ATL3):c.405G>A (p.Lys135=)	ATL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 546232	NM_015459.5(ATL3):c.167G>C (p.Arg56Pro)	ATL3 (R38P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695713	NM_015459.5(ATL3):c.47-29A>T	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244203	NM_015459.5(ATL3):c.46+255T>C	ATL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342787	NM_015459.5(ATL3):c.46+212_46+215del	ATL3	Deletion (intron variant)	not provided	GLikely benign
Select item 1326173	NM_015459.5(ATL3):c.46+166dup	ATL3	Duplication (intron variant)	not provided	GLikely benign
Select item 701888	NM_015459.5(ATL3):c.31G>T (p.Ala11Ser)	ATL3 (A11S)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory, type 1F +1 more	GBenign
Select item 1246161	NM_015459.5(ATL3):c.-29G>A	ATL3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1293189	NM_015459.4(ATL3):c.-165C>T	ATL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695711	NM_015459.4(ATL3):c.-252C>G	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326742	NM_015459.4(ATL3):c.-282C>T	ATL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699717	NM_015459.2(ATL3):c.-113C>G	LOC130005887, ATL3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1241182	NM_015459.2(ATL3):c.-215C>T	ATL3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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Items: 52