"Illumina Laboratory Services, Illumina"[submitter] AND "TPP1"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305486	NM_000391.4(TPP1):c.*1774G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879629	NM_000391.4(TPP1):c.*1741G>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305487	NM_000391.4(TPP1):c.*1715T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305488	NM_000391.4(TPP1):c.*1634T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305489	NM_000391.4(TPP1):c.*1628G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 305490	NM_000391.4(TPP1):c.*1588C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 305491	NM_000391.4(TPP1):c.*1570C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879992	NM_000391.4(TPP1):c.*1560C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879993	NM_000391.4(TPP1):c.*1540T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879994	NM_000391.4(TPP1):c.*1508G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879995	NM_000391.4(TPP1):c.*1478T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305492	NM_000391.4(TPP1):c.*1428T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305493	NM_000391.4(TPP1):c.*1412T>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305494	NM_000391.4(TPP1):c.*1311C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305495	NM_000391.4(TPP1):c.*1302A>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 877196	NM_000391.4(TPP1):c.*1282C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 877197	NM_000391.4(TPP1):c.*1250T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305496	NM_000391.4(TPP1):c.*1216dup	TPP1	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305497	NM_000391.4(TPP1):c.*1118G>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 877198	NM_000391.4(TPP1):c.*1108T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305498	NM_000391.4(TPP1):c.*1000T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305499	NM_000391.4(TPP1):c.*986C>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GLikely benign
Select item 878234	NM_000391.4(TPP1):c.*984T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878235	NM_000391.4(TPP1):c.*937C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878236	NM_000391.4(TPP1):c.*829C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305500	NM_000391.4(TPP1):c.*785T>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878237	NM_000391.4(TPP1):c.*716C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878238	NM_000391.4(TPP1):c.*704C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305501	NM_000391.4(TPP1):c.*668C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 878239	NM_000391.4(TPP1):c.*346A>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305502	NM_000391.4(TPP1):c.*314del	TPP1	Deletion (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305503	NM_000391.4(TPP1):c.*312T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 877571	NM_000391.4(TPP1):c.*241T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 879687	NM_000391.4(TPP1):c.*223T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879688	NM_000391.4(TPP1):c.*171T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879689	NM_000391.4(TPP1):c.*124C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305504	NM_000391.4(TPP1):c.*71G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 305505	NM_000391.4(TPP1):c.*44T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305506	NM_000391.4(TPP1):c.1653C>G (p.Pro551=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 194169	NM_000391.4(TPP1):c.1552-9C>T	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 879690	NM_000391.4(TPP1):c.1552-14A>C	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130608	NM_000391.4(TPP1):c.1542A>T (p.Gly514=)	TPP1	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 7 +4 more	GBenign
Select item 1190419	NM_000391.4(TPP1):c.1496dup (p.Leu500fs)	TPP1 (L500fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 130607	NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 137704	NM_000391.4(TPP1):c.1396G>A (p.Val466Met)	TPP1 (V466M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 305507	NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130606	NM_000391.4(TPP1):c.1266+5G>A	TPP1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 137703	NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	TPP1 (R418Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 193583	NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)	TPP1 (N414I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 408908	NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe)	TPP1 (L398F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 137701	NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)	TPP1 (Q373E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 305508	NM_000391.4(TPP1):c.1116C>T (p.His372=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 130605	NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 305509	NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	TPP1 (M345L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 877265	NM_000391.4(TPP1):c.993C>T (p.Ser331=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426392	NM_000391.4(TPP1):c.947C>A (p.Ala316Asp)	TPP1 (A316D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 207584	NM_000391.4(TPP1):c.890G>A (p.Arg297Gln)	TPP1 (R297Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GUncertain significance
Select item 305511	NM_000391.4(TPP1):c.887-6_887-5del	TPP1	Deletion (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 305510	NM_000391.4(TPP1):c.887-5del	TPP1	Deletion (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305513	NM_000391.4(TPP1):c.887-7_887-6del	TPP1	Deletion (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign
Select item 305512	NM_000391.4(TPP1):c.887-6del	TPP1	Deletion (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 305514	NM_000391.4(TPP1):c.886+7C>T	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92885	NM_000391.4(TPP1):c.840G>C (p.Leu280=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 207600	NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	TPP1 (R266W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 568573	NM_000391.4(TPP1):c.734G>A (p.Arg245His)	TPP1 (R245H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GUncertain significance
Select item 2643	NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	TPP1 (R208*)	Single nucleotide variant (nonsense)	Abnormality of the nervous system +6 more	GPathogenic
Select item 2644	NM_000391.4(TPP1):c.509-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 207572	NM_000391.4(TPP1):c.473A>C (p.Gln158Pro)	TPP1 (Q158P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130610	NM_000391.4(TPP1):c.441A>G (p.Glu147=)	TPP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 644051	NM_000391.4(TPP1):c.437C>T (p.Thr146Met)	TPP1 (T146M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 197664	NM_000391.4(TPP1):c.381-10dup	TPP1	Duplication (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +2 more	GBenign/Likely benign
Select item 207569	NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	TPP1 (R127*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +4 more	GPathogenic
Select item 68745	NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)	TPP1 (Q100R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +5 more	GBenign/Likely benign
Select item 130609	NM_000391.4(TPP1):c.293C>T (p.Thr98Met)	TPP1 (T98M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137698	NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)	TPP1 (S62L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 207563	NM_000391.4(TPP1):c.138G>T (p.Glu46Asp)	TPP1 (E46D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GUncertain significance
Select item 207560	NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)	TPP1 (G34D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 207559	NM_000391.4(TPP1):c.65G>A (p.Ser22Asn)	TPP1 (S22N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GUncertain significance
Select item 92884	NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	TPP1 (A5D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 305515	NM_000391.4(TPP1):c.-21G>A	TPP1	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305516	NM_000391.3(TPP1):c.-33C>G	TPP1	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 207557	NM_000391.3(TPP1):c.-40T>C	TPP1	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity

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Items: 82