"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21534	NM_015915.5(ATL1):c.84A>G (p.Pro28=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +3 more	GBenign
Select item 21530	NM_015915.5(ATL1):c.351G>A (p.Glu117=)	ATL1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1D +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 +3 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 538584	NM_015915.5(ATL1):c.570C>G (p.Leu190=)	ATL1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1D +2 more	GBenign/Likely benign
Select item 21533	NM_015915.5(ATL1):c.621G>A (p.Lys207=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 313298	NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +6 more	GBenign/Likely benign
Select item 1344240	NM_015915.5(ATL1):c.670G>A (p.Glu224Lys)	ATL1 (E224K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
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)	Hereditary spastic paraplegia 3A +3 more	GPathogenic/Likely pathogenic
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 313303	NM_015915.5(ATL1):c.991-6T>G	ATL1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1D +3 more	GBenign/Likely benign
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 870859	NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)	ATL1 (G409D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +2 more	GConflicting classifications of pathogenicity
Select item 241074	NM_015915.5(ATL1):c.1230G>A (p.Gly410=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 30582	NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	ATL1 (R416C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 4354	NM_015915.5(ATL1):c.1306_1308del (p.Asn436del)	ATL1 (N436del)	Deletion (inframe_deletion)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 219827	NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	ATL1 (R495W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +3 more	GPathogenic/Likely pathogenic