"PreventionGenetics, part of Exact Sciences"[submitter] AND "TPP1"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 698864	NM_000391.4(TPP1):c.1551+8T>C	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 130607	NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GBenign/Likely benign
Select item 382535	NM_000391.4(TPP1):c.1362A>G (p.Ala454=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 1079970	NM_000391.4(TPP1):c.1146-5C>T	TPP1	Single nucleotide variant (intron variant)	TPP1-related disorder +1 more	GLikely benign
Select item 2641	NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)	TPP1 (C365R)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colon cancer +2 more	GPathogenic/Likely pathogenic
Select item 378759	NM_000391.4(TPP1):c.1086G>A (p.Gly362=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 130605	NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 708398	NM_000391.4(TPP1):c.918G>A (p.Gln306=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 137700	NM_000391.4(TPP1):c.688-18C>T	TPP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 137699	NM_000391.4(TPP1):c.513G>T (p.Gly171=)	TPP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2644	NM_000391.4(TPP1):c.509-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic
Select item 378758	NM_000391.4(TPP1):c.509-5T>C	TPP1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 130610	NM_000391.4(TPP1):c.441A>G (p.Glu147=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 197664	NM_000391.4(TPP1):c.381-10dup	TPP1	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 378755	NM_000391.4(TPP1):c.318C>T (p.Ala106=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
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 658762	NM_000391.4(TPP1):c.119G>A (p.Arg40His)	TPP1 (R40H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379081	NM_000391.4(TPP1):c.69G>A (p.Pro23=)	TPP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 137707	NM_000391.4(TPP1):c.42C>A (p.Ile14=)	TPP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign

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Items: 23