"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATL1"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633006	NM_015915.5(ATL1):c.218C>T (p.Ala73Val)	ATL1 (A73V)	Single nucleotide variant (missense variant)	ATL1-related disorder	GUncertain significance
Select item 313293	NM_015915.5(ATL1):c.408T>C (p.Asp136=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +3 more	GBenign/Likely benign
Select item 313296	NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)	ATL1 (P208S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +3 more	GConflicting classifications of pathogenicity
Select item 136428	NM_015915.5(ATL1):c.630+7G>A	ATL1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1D +3 more	GBenign
Select item 198566	NM_015915.5(ATL1):c.631-7T>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A +2 more	GConflicting classifications of pathogenicity
Select item 313298	NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 313299	NM_015915.5(ATL1):c.693T>C (p.Gly231=)	ATL1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1D +5 more	GBenign/Likely benign
Select item 1714113	NM_015915.5(ATL1):c.1070T>C (p.Leu357Ser)	ATL1 (L357S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 1107846	NM_015915.5(ATL1):c.1542G>A (p.Leu514=)	ATL1	Single nucleotide variant (synonymous variant)	ATL1-related disorder +1 more	GLikely benign