ClinVar for MedGen (Select 462322) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061971	NM_015915.5(ATL1):c.749T>G (p.Leu250Arg)	ATL1 (L250R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1D +1 more	Gnot provided
Select item 1402624	NM_015915.5(ATL1):c.723+3_723+19del	ATL1	Deletion (splice donor variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
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 1174932	NM_015915.5(ATL1):c.418-19G>T	ATL1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1D +2 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 976249	NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu)	ATL1 (P540L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1D	GUncertain significance
Select item 931613	NM_015915.5(ATL1):c.833C>T (p.Thr278Ile)	ATL1 (T278I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1D	GUncertain significance
Select item 930242	NM_015915.5(ATL1):c.169C>T (p.Leu57Phe)	ATL1 (L57F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1D	GUncertain significance
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 678071	NM_015915.5(ATL1):c.1119+136_1119+137insAT	ATL1	Insertion (intron variant)	Neuropathy, hereditary sensory, type 1D +1 more	GBenign
Select item 670499	NM_015915.5(ATL1):c.630+105G>A	ATL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 638382	NM_015915.5(ATL1):c.1111dup (p.Met371fs)	ATL1 (M371fs)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1D	GLikely pathogenic
Select item 637513	NM_015915.5(ATL1):c.976del (p.Val326fs)	ATL1 (V326fs)	Deletion (frameshift variant)	Neuropathy, hereditary sensory, type 1D +1 more	GConflicting classifications of pathogenicity
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 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 538582	NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn)	ATL1 (S519N)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 516491	NM_015915.5(ATL1):c.35-14G>A	ATL1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 471249	NM_015915.5(ATL1):c.30T>C (p.Ser10=)	ATL1, MAP4K5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +3 more	GBenign/Likely benign
Select item 444328	NM_015915.5(ATL1):c.688G>A (p.Asp230Asn)	ATL1 (D230N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 425042	NM_015915.5(ATL1):c.922G>A (p.Glu308Lys)	ATL1 (E308K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 422120	NM_015915.5(ATL1):c.991-3dup	ATL1	Duplication (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 313310	NM_015915.5(ATL1):c.*305T>C	ATL1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 313300	NM_015915.5(ATL1):c.705C>T (p.Phe235=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
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 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 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 313293	NM_015915.5(ATL1):c.408T>C (p.Asp136=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
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 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 30580	NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	ATL1 (E66Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 30579	NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)	ATL1 (N355K)	Single nucleotide variant (missense variant)	Osteomyelitis leading to amputation due to slow healing fractures +3 more	GPathogenic
Select item 21534	NM_015915.5(ATL1):c.84A>G (p.Pro28=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 21530	NM_015915.5(ATL1):c.351G>A (p.Glu117=)	ATL1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 4346	NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	ATL1 (R239C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 37