ClinVar Miner

List of variants in gene ATL1 reported as likely pathogenic for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.1078G>A (p.Val360Met) rs373267047 0.00006
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys) rs387906941 0.00001
NC_000014.9:g.(?_50590931)_(50632349_?)del
NM_015915.5(ATL1):c.1021_1023del (p.Leu341del)
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_015915.5(ATL1):c.1041G>A (p.Met347Ile) rs1555365512
NM_015915.5(ATL1):c.1041G>T (p.Met347Ile)
NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser) rs1595621292
NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys) rs1555365595
NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys) rs1595621335
NM_015915.5(ATL1):c.1119G>A (p.Glu373=) rs2039485066
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser) rs1595625010
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr) rs864622083
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu) rs1555365850
NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)
NM_015915.5(ATL1):c.1214T>G (p.Val405Gly)
NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln) rs1595625104
NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu) rs1595625104
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met) rs2039539459
NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del) rs1595625206
NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)
NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)
NM_015915.5(ATL1):c.1511del (p.Gly504fs) rs1566735903
NM_015915.5(ATL1):c.35-1G>A
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)
NM_015915.5(ATL1):c.466A>C (p.Thr156Pro) rs2140205433
NM_015915.5(ATL1):c.471G>T (p.Leu157Phe) rs2140205438
NM_015915.5(ATL1):c.481G>T (p.Ala161Ser) rs1555363969
NM_015915.5(ATL1):c.482C>T (p.Ala161Val) rs2140205448
NM_015915.5(ATL1):c.522+1G>T
NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr) rs1555364149
NM_015915.5(ATL1):c.574C>T (p.Leu192Phe) rs2039208042
NM_015915.5(ATL1):c.594A>C (p.Arg198Ser) rs1555364247
NM_015915.5(ATL1):c.656G>A (p.Trp219Ter)
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.740A>G (p.His247Arg) rs2140226883
NM_015915.5(ATL1):c.940G>T (p.Glu314Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.