C2931355[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 471249	NM_015915.5(ATL1):c.30T>C (p.Ser10=)	ATL1, MAP4K5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
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 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 21530	NM_015915.5(ATL1):c.351G>A (p.Glu117=)	ATL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 313293	NM_015915.5(ATL1):c.408T>C (p.Asp136=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +2 more	GBenign/Likely benign
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 1174932	NM_015915.5(ATL1):c.418-19G>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +2 more	GBenign
Select item 538584	NM_015915.5(ATL1):c.570C>G (p.Leu190=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 1192462	NM_015915.5(ATL1):c.574-57TC[11]	ATL1	Microsatellite (intron variant)	Hereditary spastic paraplegia 3A +1 more	GBenign
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 136428	NM_015915.5(ATL1):c.630+7G>A	ATL1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 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 670500	NM_015915.5(ATL1):c.863-54A>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +1 more	GBenign
Select item 994783	NM_015915.5(ATL1):c.921C>T (p.Pro307=)	ATL1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1D +2 more	GBenign/Likely benign
Select item 422120	NM_015915.5(ATL1):c.991-3dup	ATL1	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 313303	NM_015915.5(ATL1):c.991-6T>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +3 more	GBenign/Likely benign
Select item 678072	NM_015915.5(ATL1):c.1119+149T>G	ATL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1293178	NM_015915.5(ATL1):c.1552-68_1552-67insATA	ATL1	Insertion (intron variant)	not provided +2 more	GBenign
Select item 1278312	NM_015915.5(ATL1):c.1552-24_1552-20del	ATL1	Deletion (intron variant)	Neuropathy, hereditary sensory, type 1D +2 more	GBenign
Select item 883385	NM_015915.5(ATL1):c.1635A>G (p.Pro545=)	ATL1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1D +1 more	GBenign
Select item 313310	NM_015915.5(ATL1):c.*305T>C	ATL1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory, type 1D +2 more	GBenign/Likely benign

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Items: 25