ClinVar for MedGen (Select 1785772) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1675145	NM_001330588.2(TPP2):c.3136A>G (p.Met1046Val)	TPP2 (M1033V +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay	GUncertain significance
Select item 1618132	NM_001330588.2(TPP2):c.1016+17A>G	TPP2	Single nucleotide variant (intron variant)	Immunodeficiency 78 with autoimmunity and developmental delay +1 more	GLikely benign
Select item 1046445	NM_001330588.2(TPP2):c.3461A>C (p.Gln1154Pro)	TPP2 (Q1183P +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay +1 more	GUncertain significance
Select item 1027541	NM_001330588.2(TPP2):c.82T>G (p.Cys28Gly)	TPP2	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay	GUncertain significance
Select item 1027539	NM_001330588.2(TPP2):c.433del (p.Ala145fs)	TPP2 (A145fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay	GPathogenic
Select item 1027538	NM_001330588.2(TPP2):c.1499G>A (p.Gly500Asp)	TPP2	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay	GPathogenic
Select item 1027537	NM_001330588.2(TPP2):c.2343C>G (p.Tyr781Ter)	TPP2	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay	GPathogenic
Select item 995805	NM_001330588.2(TPP2):c.2394-550_2952+659del	TPP2	Deletion (splice acceptor variant +1 more)	Thrombocytopenia +7 more	GPathogenic
Select item 949468	NM_001330588.2(TPP2):c.1270A>G (p.Ile424Val)	TPP2 (I424V)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency +2 more	GUncertain significance
Select item 857859	NM_001330588.2(TPP2):c.2402G>A (p.Ser801Asn)	TPP2 (S801N)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency +1 more	GUncertain significance
Select item 847645	NM_001330588.2(TPP2):c.2027C>T (p.Thr676Ile)	TPP2 (T676I)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency +1 more	GUncertain significance
Select item 662393	NM_001330588.2(TPP2):c.3074A>G (p.Glu1025Gly)	TPP2 (E1012G +1 more)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency +1 more	GUncertain significance
Select item 640880	NM_001330588.2(TPP2):c.2237T>A (p.Ile746Asn)	TPP2 (I746N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay +1 more	GUncertain significance