C4759870[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314810	NM_018319.3(TDP1):c.-292G>T	TDP1	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314812	NM_018319.3(TDP1):c.-278C>T	TDP1	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314813	NM_018319.3(TDP1):c.-275C>G	TDP1	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 886936	NM_018319.4(TDP1):c.-264G>A	TDP1	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 886937	NM_018319.4(TDP1):c.-243C>T	TDP1	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888197	NM_018319.4(TDP1):c.-242T>G	TDP1	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314815	NM_018319.4(TDP1):c.-230-14C>A	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314816	NM_018319.4(TDP1):c.-230-4G>T	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314817	NM_018319.4(TDP1):c.-224A>G	TDP1	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314818	NM_018319.4(TDP1):c.-177C>T	TDP1	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314819	NM_018319.4(TDP1):c.-76T>C	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314820	NM_018319.4(TDP1):c.-55C>G	TDP1	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888198	NM_018319.4(TDP1):c.-38G>A	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314821	NM_018319.4(TDP1):c.-21C>T	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 885077	NM_018319.4(TDP1):c.-8+15T>C	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314822	NM_018319.4(TDP1):c.15C>T (p.Gly5=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 314823	NM_018319.4(TDP1):c.19T>C (p.Tyr7His)	LOC126862019, TDP1 (Y7H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 885078	NM_018319.4(TDP1):c.25A>G (p.Arg9Gly)	LOC126862019, TDP1 (R9G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885079	NM_018319.4(TDP1):c.68C>T (p.Pro23Leu)	LOC126862019, TDP1 (P23L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885080	NM_018319.4(TDP1):c.84A>G (p.Pro28=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 805648	NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys)	TDP1, LOC126862019 (Y46C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196488	NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)	LOC126862019, TDP1 (S70T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805649	NM_018319.4(TDP1):c.236G>C (p.Ser79Thr)	LOC126862019, TDP1 (S79T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 314824	NM_018319.4(TDP1):c.291A>G (p.Gln97=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 314825	NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)	LOC126862019, TDP1 (P101L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 885996	NM_018319.4(TDP1):c.353C>T (p.Ala118Val)	LOC126862019, TDP1 (A118V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314826	NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)	LOC126862019, TDP1 (A134T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 885997	NM_018319.4(TDP1):c.643T>C (p.Tyr215His)	TDP1 (Y215H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314827	NM_018319.4(TDP1):c.716A>G (p.His239Arg)	TDP1 (H239R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 886996	NM_018319.4(TDP1):c.757G>A (p.Ala253Thr)	TDP1 (A253T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 314828	NM_018319.4(TDP1):c.789C>T (p.His263=)	TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314829	NM_018319.4(TDP1):c.884+5G>A	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314830	NM_018319.4(TDP1):c.885-15T>C	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 631721	NM_018319.4(TDP1):c.896del (p.Ser299fs)	TDP1 (S299fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 314831	NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)	TDP1 (R304Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 886997	NM_018319.4(TDP1):c.998C>T (p.Pro333Leu)	TDP1 (P333L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314832	NM_018319.4(TDP1):c.1077A>G (p.Pro359=)	TDP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 314833	NM_018319.4(TDP1):c.1098A>G (p.Gln366=)	TDP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 314834	NM_018319.4(TDP1):c.1107T>C (p.Asn369=)	TDP1	Single nucleotide variant (synonymous variant)	TDP1-related condition +3 more	GBenign
Select item 599426	NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr)	TDP1 (A389T)	Single nucleotide variant (missense variant)	TDP1-related condition +3 more	GBenign/Likely benign
Select item 888262	NM_018319.4(TDP1):c.1201G>T (p.Val401Phe)	TDP1 (V401F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314835	NM_018319.4(TDP1):c.1317+11G>A	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314836	NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp)	TDP1 (R448W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 314837	NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln)	TDP1 (R448Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 314838	NM_018319.4(TDP1):c.1366+10G>A	TDP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 888263	NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys)	TDP1 (W509C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 631546	NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter)	TDP1 (Y537*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 314839	NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)	TDP1 (T569A)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 314840	NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly)	TDP1 (S583G)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 314841	NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)	TDP1 (T600M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 885154	NM_018319.4(TDP1):c.*37T>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314842	NM_018319.4(TDP1):c.*77C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign
Select item 885155	NM_018319.4(TDP1):c.*134A>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885156	NM_018319.4(TDP1):c.*135T>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885157	NM_018319.4(TDP1):c.*228T>G	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314844	NM_018319.4(TDP1):c.*264G>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314845	NM_018319.4(TDP1):c.*393T>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 886062	NM_018319.4(TDP1):c.*496G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314846	NM_018319.4(TDP1):c.*539G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 886063	NM_018319.4(TDP1):c.*598G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 886064	NM_018319.4(TDP1):c.*599G>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GLikely benign
Select item 886065	NM_018319.4(TDP1):c.*631C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314848	NM_018319.4(TDP1):c.*774G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314849	NM_018319.4(TDP1):c.*776T>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314850	NM_018319.4(TDP1):c.*799A>G	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 887062	NM_018319.4(TDP1):c.*801G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314851	NM_018319.4(TDP1):c.*904C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 887063	NM_018319.4(TDP1):c.*932C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GLikely benign
Select item 314852	NM_018319.4(TDP1):c.*945C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 887064	NM_018319.4(TDP1):c.*950C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314853	NM_018319.4(TDP1):c.*1015G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888336	NM_018319.4(TDP1):c.*1099G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888337	NM_018319.4(TDP1):c.*1105A>G	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 888338	NM_018319.4(TDP1):c.*1200G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314854	NM_018319.4(TDP1):c.*1203G>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888339	NM_018319.4(TDP1):c.*1239T>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314855	NM_018319.4(TDP1):c.*1355G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888340	NM_018319.4(TDP1):c.*1367A>G	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888341	NM_018319.4(TDP1):c.*1399T>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885229	NM_018319.4(TDP1):c.*1430G>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GLikely benign
Select item 314856	NM_018319.4(TDP1):c.*1448G>A	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314857	NM_018319.4(TDP1):c.*1452C>T	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314858	NM_018319.4(TDP1):c.*1460C>G	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 885230	NM_018319.4(TDP1):c.*1511C>G	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885231	NM_018319.4(TDP1):c.*1618T>C	TDP1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85