"Ambry Genetics"[submitter] AND "TPP2"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 854994	NM_001330588.2(TPP2):c.73T>G (p.Ser25Ala)	TPP2 (S25A)	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 2198950	NM_001330588.2(TPP2):c.91C>G (p.Pro31Ala)	TPP2 (P31A)	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 791081	NM_001330588.2(TPP2):c.121G>A (p.Ala41Thr)	TPP2 (A41T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2164404	NM_001330588.2(TPP2):c.200T>C (p.Ile67Thr)	TPP2 (I67T)	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 1910916	NM_001330588.2(TPP2):c.203T>C (p.Ile68Thr)	TPP2 (I68T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1350631	NM_001330588.2(TPP2):c.256G>C (p.Asp86His)	TPP2 (D86H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2589977	NM_001330588.2(TPP2):c.292A>G (p.Lys98Glu)	TPP2 (K98E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1504845	NM_001330588.2(TPP2):c.316C>A (p.Pro106Thr)	TPP2 (P106T)	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 2607806	NM_001330588.2(TPP2):c.317C>T (p.Pro106Leu)	TPP2 (P106L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1460893	NM_001330588.2(TPP2):c.338G>A (p.Gly113Asp)	TPP2 (G113D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3181567	NM_001330588.2(TPP2):c.409A>C (p.Ile137Leu)	TPP2 (I137L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1491227	NM_001330588.2(TPP2):c.426C>G (p.His142Gln)	TPP2 (H142Q)	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 941752	NM_001330588.2(TPP2):c.580G>A (p.Val194Ile)	TPP2 (V194I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545190	NM_001330588.2(TPP2):c.692A>G (p.Gln231Arg)	TPP2 (Q231R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181568	NM_001330588.2(TPP2):c.713C>T (p.Thr238Ile)	TPP2 (T238I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2057158	NM_001330588.2(TPP2):c.736G>A (p.Val246Ile)	TPP2 (V246I)	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 2242557	NM_001330588.2(TPP2):c.791A>C (p.His264Pro)	TPP2 (H264P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1051241	NM_001330588.2(TPP2):c.869A>G (p.Gln290Arg)	TPP2 (Q290R)	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 2245755	NM_001330588.2(TPP2):c.1408A>G (p.Asn470Asp)	TPP2 (N470D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1517743	NM_001330588.2(TPP2):c.1476A>G (p.Ile492Met)	TPP2 (I492M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 845452	NM_001330588.2(TPP2):c.1529A>G (p.Tyr510Cys)	TPP2 (Y510C)	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 2303014	NM_001330588.2(TPP2):c.1699C>T (p.Leu567Phe)	TPP2 (L567F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181561	NM_001330588.2(TPP2):c.1828T>C (p.Tyr610His)	TPP2 (Y610H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 544311	NM_001330588.2(TPP2):c.1855G>A (p.Ala619Thr)	TPP2 (A619T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 948938	NM_001330588.2(TPP2):c.1874C>T (p.Pro625Leu)	TPP2 (P625L)	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 578630	NM_001330588.2(TPP2):c.1891A>C (p.Ile631Leu)	TPP2 (I631L)	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 1446257	NM_001330588.2(TPP2):c.2000C>T (p.Pro667Leu)	TPP2 (P667L)	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 3181563	NM_001330588.2(TPP2):c.2129G>A (p.Cys710Tyr)	TPP2 (C710Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181564	NM_001330588.2(TPP2):c.2403T>A (p.Ser801Arg)	TPP2 (S801R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181565	NM_001330588.2(TPP2):c.2414A>C (p.Lys805Thr)	TPP2 (K805T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328303	NM_001330588.2(TPP2):c.2686C>G (p.Gln896Glu)	TPP2 (Q896E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314184	NM_001330588.2(TPP2):c.2728G>T (p.Val910Phe)	TPP2 (V910F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339580	NM_001330588.2(TPP2):c.2749A>G (p.Thr917Ala)	TPP2 (T917A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370568	NM_001330588.2(TPP2):c.2876T>C (p.Ile959Thr)	TPP2 (I959T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 662616	NM_001330588.2(TPP2):c.3208G>A (p.Val1070Ile)	TPP2 (V1057I +1 more)	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 656175	NM_001330588.2(TPP2):c.3331A>G (p.Met1111Val)	TPP2 (M1111V +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 2553062	NM_001330588.2(TPP2):c.3377T>C (p.Met1126Thr)	TPP2 (M1113T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1379779	NM_001330588.2(TPP2):c.3427G>T (p.Ala1143Ser)	TPP2 (A1172S +2 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 1041354	NM_001330588.2(TPP2):c.3440A>G (p.His1147Arg)	TPP2 (H1134R +2 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 2557837	NM_001330588.2(TPP2):c.3512G>A (p.Ser1171Asn)	TPP2 (S1171N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226542	NM_001330588.2(TPP2):c.3596A>G (p.Tyr1199Cys)	TPP2 (Y1228C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 569283	NM_001330588.2(TPP2):c.3680A>G (p.Asn1227Ser)	TPP2 (N1214S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1467565	NM_001330588.2(TPP2):c.3692G>A (p.Cys1231Tyr)	TPP2 (C1218Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 43