"GeneDx"[submitter] AND "ATL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 678056	NM_001127713.1(ATL1):c.-140+55A>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678057	NM_001127713.1(ATL1):c.-140+60G>A	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262528	NM_001127713.1(ATL1):c.-140+108C>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308072	NM_015915.5(ATL1):c.19G>A (p.Asp7Asn)	ATL1, MAP4K5 (D7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513999	NM_015915.5(ATL1):c.34+16G>A	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GLikely benign
Select item 1190758	NM_015915.5(ATL1):c.34+109del	ATL1, MAP4K5	Deletion (intron variant)	not provided	GLikely benign
Select item 1268055	NM_015915.5(ATL1):c.34+110G>C	ATL1, MAP4K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262532	NM_015915.5(ATL1):c.35-74G>C	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516491	NM_015915.5(ATL1):c.35-14G>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +3 more	GBenign
Select item 21534	NM_015915.5(ATL1):c.84A>G (p.Pro28=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 546294	NM_015915.5(ATL1):c.127G>A (p.Asp43Asn)	ATL1 (D43N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 471248	NM_015915.5(ATL1):c.164G>A (p.Arg55Gln)	ATL1 (R55Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 30580	NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	ATL1 (E66Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +2 more	GConflicting classifications of pathogenicity
Select item 2498001	NM_015915.5(ATL1):c.208G>T (p.Val70Leu)	ATL1 (V70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304917	NM_015915.5(ATL1):c.209T>A (p.Val70Glu)	ATL1 (V70E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948967	NM_015915.5(ATL1):c.268T>C (p.Tyr90His)	ATL1 (Y90H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 1203351	NM_015915.5(ATL1):c.283-56G>A	ATL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 538585	NM_015915.5(ATL1):c.306C>A (p.Asp102Glu)	ATL1 (D102E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 450586	NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)	ATL1 (N104S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377500	NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)	ATL1 (T108A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +2 more	GConflicting classifications of pathogenicity
Select item 21530	NM_015915.5(ATL1):c.351G>A (p.Glu117=)	ATL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 2578138	NM_015915.5(ATL1):c.404C>T (p.Pro135Leu)	ATL1 (P135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136194	NM_015915.5(ATL1):c.412A>T (p.Lys138Ter)	ATL1 (K138*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 245793	NM_015915.5(ATL1):c.416A>G (p.Lys139Arg)	ATL1 (K139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 313294	NM_015915.5(ATL1):c.417+3A>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +3 more	GBenign/Likely benign
Select item 1291570	NM_015915.5(ATL1):c.418-175T>C	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174932	NM_015915.5(ATL1):c.418-19G>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +2 more	GBenign
Select item 280749	NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)	ATL1 (S160P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 673420	NM_015915.5(ATL1):c.522+154G>A	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678058	NM_015915.5(ATL1):c.523-112A>G	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312246	NM_015915.5(ATL1):c.533T>G (p.Leu178Ter)	ATL1 (L178*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1315378	NM_015915.5(ATL1):c.535del (p.Ser179fs)	ATL1 (S179fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1352053	NM_015915.5(ATL1):c.568C>T (p.Leu190Phe)	ATL1 (L190F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 670498	NM_015915.5(ATL1):c.574-132G>A	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192462	NM_015915.5(ATL1):c.574-57TC[11]	ATL1	Microsatellite (intron variant)	Hereditary spastic paraplegia 3A +1 more	GBenign
Select item 1186873	NM_015915.5(ATL1):c.574-24G>C	ATL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449532	NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys)	ATL1 (Y196C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21533	NM_015915.5(ATL1):c.621G>A (p.Lys207=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 313296	NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)	ATL1 (P208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1695528	NM_015915.5(ATL1):c.628C>A (p.Gln210Lys)	ATL1 (Q210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136428	NM_015915.5(ATL1):c.630+7G>A	ATL1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 670499	NM_015915.5(ATL1):c.630+105G>A	ATL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278927	NM_015915.5(ATL1):c.630+264del	ATL1	Deletion (intron variant)	not provided	GBenign
Select item 1175685	NM_015915.5(ATL1):c.631-166G>A	ATL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198566	NM_015915.5(ATL1):c.631-7T>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 313298	NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3368712	NM_015915.5(ATL1):c.680A>G (p.Tyr227Cys)	ATL1 (Y227C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377501	NM_015915.5(ATL1):c.687C>T (p.Ala229=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 313299	NM_015915.5(ATL1):c.693T>C (p.Gly231=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 313300	NM_015915.5(ATL1):c.705C>T (p.Phe235=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 4346	NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	ATL1 (R239C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1D +3 more	GPathogenic/Likely pathogenic
Select item 1208747	NM_015915.5(ATL1):c.723+273_723+277del	ATL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1687638	NM_015915.5(ATL1):c.740A>C (p.His247Pro)	ATL1 (H247P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2504269	NM_015915.5(ATL1):c.757G>T (p.Val253Phe)	ATL1 (V253F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 220424	NM_015915.5(ATL1):c.757G>A (p.Val253Ile)	ATL1 (V253I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1203526	NM_015915.5(ATL1):c.766C>G (p.His256Asp)	ATL1 (H256D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 512998	NM_015915.5(ATL1):c.780T>C (p.Cys260=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 503888	NM_015915.5(ATL1):c.781_782insA (p.Phe261fs)	ATL1 (F261fs)	Insertion (frameshift variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 2507232	NM_015915.5(ATL1):c.845T>G (p.Phe282Cys)	ATL1 (F282C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 678059	NM_015915.5(ATL1):c.862+220C>T	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668735	NM_015915.5(ATL1):c.862+286C>T	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670500	NM_015915.5(ATL1):c.863-54A>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GBenign
Select item 1959001	NM_015915.5(ATL1):c.898C>A (p.Leu300Met)	ATL1 (L300M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 471253	NM_015915.5(ATL1):c.953A>T (p.Asn318Ile)	ATL1 (N318I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 668289	NM_015915.5(ATL1):c.990+11C>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GLikely benign
Select item 678069	NM_015915.5(ATL1):c.990+245G>A	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218143	NM_015915.5(ATL1):c.990+281del	ATL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1208477	NM_015915.5(ATL1):c.990+287T>C	ATL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422120	NM_015915.5(ATL1):c.991-3dup	ATL1	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 514935	NM_015915.5(ATL1):c.1047+12T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GLikely benign
Select item 678070	NM_015915.5(ATL1):c.1048-168G>T	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291568	NM_015915.5(ATL1):c.1048-58G>A	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199524	NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)	ATL1 (T351A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 390443	NM_015915.5(ATL1):c.1078G>A (p.Val360Met)	ATL1 (V360M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 391817	NM_015915.5(ATL1):c.1105A>C (p.Lys369Gln)	ATL1 (K369Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 678071	NM_015915.5(ATL1):c.1119+136_1119+137insAT	ATL1	Insertion (intron variant)	Neuropathy, hereditary sensory, type 1D +1 more	GBenign
Select item 678072	NM_015915.5(ATL1):c.1119+149T>G	ATL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222440	NM_015915.5(ATL1):c.1119+150A>G	ATL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215873	NM_015915.5(ATL1):c.1120-47A>C	ATL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 313304	NM_015915.5(ATL1):c.1152A>G (p.Pro384=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 659129	NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)	ATL1 (L387S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 388091	NM_015915.5(ATL1):c.1173C>G (p.His391Gln)	ATL1 (H391Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 313305	NM_015915.5(ATL1):c.1173C>T (p.His391=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2571511	NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)	ATL1 (S398F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 194097	NM_015915.5(ATL1):c.1200G>A (p.Lys400=)	ATL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452665	NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)	ATL1 (F402L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 807547	NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)	ATL1 (K407del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 3A +2 more	GPathogenic/Likely pathogenic
Select item 803026	NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)	ATL1 (M408T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 421566	NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys)	ATL1 (G409C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 241074	NM_015915.5(ATL1):c.1230G>A (p.Gly410=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 3365419	NM_015915.5(ATL1):c.1237T>A (p.Phe413Ile)	ATL1 (F413I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4352	NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)	ATL1 (R415W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56844	NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)	ATL1 (R415Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 30582	NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	ATL1 (R416C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 858305	NM_015915.5(ATL1):c.1247G>A (p.Arg416His)	ATL1 (R416H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +2 more	GConflicting classifications of pathogenicity
Select item 1002862	NM_015915.5(ATL1):c.1274T>C (p.Ile425Thr)	ATL1 (I425T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 1684111	NM_015915.5(ATL1):c.1288A>C (p.Ile430Leu)	ATL1 (I430L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 972071	NM_015915.5(ATL1):c.1314C>G (p.Ser438Arg)	ATL1 (S438R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 959516	NM_015915.5(ATL1):c.1330G>T (p.Ala444Ser)	ATL1 (A444S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance

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