Related gene-specific medical variations for Gene (Select 7174) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354712	NM_001330588.2(TPP2):c.-9C>T	LOC130010073, TPP2	Single nucleotide variant (5 prime UTR variant +1 more)	TPP2-related disorder	GLikely benign
Select item 2976794	NM_001330588.2(TPP2):c.165+14C>G	LOC130010074, TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2701172	NM_001330588.2(TPP2):c.165+11C>G	LOC130010074, TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2437220	NM_001330588.2(TPP2):c.2137C>A (p.Pro713Thr)	TPP2 (P713T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay	GUncertain significance
Select item 2199868	NM_001330588.2(TPP2):c.165+19del	LOC130010074, TPP2	Deletion (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2008848	NM_001330588.2(TPP2):c.9C>G (p.Thr3=)	LOC130010073, TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1945228	NM_001330588.2(TPP2):c.165+10C>A	LOC130010074, TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1580299	NM_001330588.2(TPP2):c.165+14C>T	LOC130010074, TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1157618	NM_001330588.2(TPP2):c.9C>T (p.Thr3=)	LOC130010073, TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 930610	NM_001330588.2(TPP2):c.1678+11G>C	TPP2	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 544314	NM_001330588.2(TPP2):c.6C>T (p.Ala2=)	LOC130010073, TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign