"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ATL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694098	NM_015915.5(ATL1):c.299T>C (p.Val100Ala)	ATL1 (V100A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 538581	NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr)	ATL1 (S179Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +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 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 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 3380193	NM_015915.5(ATL1):c.1469C>T (p.Thr490Ile)	ATL1 (T490I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar