"TPP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 14

	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)	TPP1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 698864	NM_000391.4(TPP1):c.1551+8T>C	TPP1	Single nucleotide variant (intron variant)	TPP1-related disorder +1 more	GLikely 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 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)	TPP1-related disorder +3 more	GLikely 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 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)	TPP1-related disorder +3 more	GBenign/Likely benign
Select item 2644	NM_000391.4(TPP1):c.509-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2 +5 more	GPathogenic
Select item 378758	NM_000391.4(TPP1):c.509-5T>C	TPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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)	TPP1-related disorder +2 more	GLikely benign