C2931355[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313292	NM_001127713.1(ATL1):c.-139-16C>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 697332	NM_015915.5(ATL1):c.45G>A (p.Ser15=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
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 30580	NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	ATL1 (E66Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 216696	NM_015915.5(ATL1):c.300T>G (p.Val100=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 377500	NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)	ATL1 (T108A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 157549	NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)	ATL1 (R118Q)	Single nucleotide variant (missense variant)	Spastic Paraplegia, Recessive +1 more	GConflicting classifications of pathogenicity
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 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 313295	NM_015915.5(ATL1):c.523-13T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely 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 313296	NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)	ATL1 (P208S)	Single nucleotide variant (missense variant)	ATL1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 313297	NM_015915.5(ATL1):c.630+6C>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
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 313298	NM_015915.5(ATL1):c.669C>T (p.Tyr223=)	ATL1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 313299	NM_015915.5(ATL1):c.693T>C (p.Gly231=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 313300	NM_015915.5(ATL1):c.705C>T (p.Phe235=)	ATL1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 313301	NM_015915.5(ATL1):c.756C>T (p.Asn252=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 313302	NM_015915.5(ATL1):c.969G>C (p.Arg323=)	ATL1	Single nucleotide variant (synonymous variant)	Spastic paraplegia, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 313303	NM_015915.5(ATL1):c.991-6T>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 882602	NM_015915.5(ATL1):c.1120-15C>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GConflicting classifications of pathogenicity
Select item 313304	NM_015915.5(ATL1):c.1152A>G (p.Pro384=)	ATL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 313305	NM_015915.5(ATL1):c.1173C>T (p.His391=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 986192	NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)	ATL1 (K407M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 241074	NM_015915.5(ATL1):c.1230G>A (p.Gly410=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A +5 more	GBenign/Likely benign
Select item 313306	NM_015915.5(ATL1):c.1567-14T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 313307	NM_015915.5(ATL1):c.1623T>G (p.Ala541=)	ATL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 883386	NM_015915.5(ATL1):c.*109A>C	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 883387	NM_015915.5(ATL1):c.*180A>C	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 313308	NM_015915.5(ATL1):c.*212T>A	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GBenign
Select item 313309	NM_015915.5(ATL1):c.*304C>T	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
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 881033	NM_015915.5(ATL1):c.*327A>G	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 881034	NM_015915.5(ATL1):c.*335C>T	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 881035	NM_015915.5(ATL1):c.*371T>A	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 313311	NM_015915.5(ATL1):c.*392C>A	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GBenign
Select item 313312	NM_015915.5(ATL1):c.*450A>G	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GBenign
Select item 881036	NM_015915.5(ATL1):c.*464C>T	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 313313	NM_015915.5(ATL1):c.*475G>A	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GBenign
Select item 313314	NM_015915.5(ATL1):c.*528A>C	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 313315	NM_015915.5(ATL1):c.*621G>A	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GBenign
Select item 313316	NM_015915.5(ATL1):c.*653T>C	ATL1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 3A	GUncertain significance

ClinVar

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Items: 45