7174[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 751

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	MCF2L-AS1, METTL21C +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130009994, LOC130009995 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	ABCC4, BIVM +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC130010070, LOC130010071 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130010106, LOC130010107 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	FGF14-IT1, FKSG29 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	LOC110008580, LOC110120930 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	ABHD13, ARGLU1 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	LOC130010059, LOC130010060 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 150092	GRCh38/hg38 13q32.3-33.2(chr13:101095590-105074548)x1	BIVM, BIVM-ERCC5 +40 more	Copy number loss	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 58281	GRCh38/hg38 13q33.1(chr13:102516631-102862008)x3	BIVM, BIVM-ERCC5 +16 more	Copy number gain	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
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 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 792954	NM_001330588.2(TPP2):c.12T>A (p.Ala4=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2830576	NM_001330588.2(TPP2):c.21G>A (p.Glu7=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1549162	NM_001330588.2(TPP2):c.27C>T (p.Pro9=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1099505	NM_001330588.2(TPP2):c.30C>T (p.Phe10=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2782048	NM_001330588.2(TPP2):c.39C>T (p.His13=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 3049852	NM_001330588.2(TPP2):c.48G>T (p.Leu16=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	TPP2-related condition	GLikely benign
Select item 2124252	NM_001330588.2(TPP2):c.63C>A (p.Thr21=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2185385	NM_001330588.2(TPP2):c.66A>G (p.Gly22=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1964407	NM_001330588.2(TPP2):c.70G>A (p.Ala24Thr)	TPP2 (A24T)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 1084833	NM_001330588.2(TPP2):c.72C>G (p.Ala24=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
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 842094	NM_001330588.2(TPP2):c.74C>G (p.Ser25Cys)	TPP2 (S25C)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	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 576441	NM_001330588.2(TPP2):c.87C>G (p.Arg29=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 2198950	NM_001330588.2(TPP2):c.91C>G (p.Pro31Ala)	TPP2 (P31A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2069612	NM_001330588.2(TPP2):c.91C>T (p.Pro31Ser)	TPP2 (P31S)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 478057	NM_001330588.2(TPP2):c.92C>T (p.Pro31Leu)	TPP2 (P31L)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 2828802	NM_001330588.2(TPP2):c.105G>T (p.Gly35=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1379871	NM_001330588.2(TPP2):c.107G>C (p.Arg36Pro)	TPP2 (R36P)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 842471	NM_001330588.2(TPP2):c.111G>T (p.Gly37=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2810718	NM_001330588.2(TPP2):c.115C>G (p.Leu39Val)	TPP2 (L39V)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 1505887	NM_001330588.2(TPP2):c.118A>G (p.Ile40Val)	TPP2 (I40V)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 791081	NM_001330588.2(TPP2):c.121G>A (p.Ala41Thr)	TPP2 (A41T)	Single nucleotide variant (missense variant +1 more)	TPP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 567044	NM_001330588.2(TPP2):c.124G>C (p.Val42Leu)	TPP2 (V42L)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 1077444	NM_001330588.2(TPP2):c.126C>T (p.Val42=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1637542	NM_001330588.2(TPP2):c.127C>T (p.Leu43=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1984092	NM_001330588.2(TPP2):c.135G>A (p.Thr45=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1143926	NM_001330588.2(TPP2):c.135G>T (p.Thr45=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 739729	NM_001330588.2(TPP2):c.147G>T (p.Pro49=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1012116	NM_001330588.2(TPP2):c.154C>G (p.Pro52Ala)	TPP2 (P52A)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 2700459	NM_001330588.2(TPP2):c.156G>T (p.Pro52=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2127933	NM_001330588.2(TPP2):c.160A>G (p.Met54Val)	TPP2 (M54V)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
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 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 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 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 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 1441495	NM_001330588.2(TPP2):c.166-17A>G	TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 2427919	NM_001330588.2(TPP2):c.166-4dup	TPP2	Duplication (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GBenign
Select item 955175	NM_001330588.2(TPP2):c.166-5T>A	TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 1061958	NM_001330588.2(TPP2):c.166G>A (p.Val56Ile)	TPP2 (V56I)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 1120488	NM_001330588.2(TPP2):c.174T>G (p.Thr58=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2120248	NM_001330588.2(TPP2):c.179G>A (p.Gly60Glu)	TPP2 (G60E)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 2758766	NM_001330588.2(TPP2):c.192C>T (p.Ile64=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1149331	NM_001330588.2(TPP2):c.192C>A (p.Ile64=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 720160	NM_001330588.2(TPP2):c.193G>A (p.Val65Ile)	TPP2 (V65I)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GBenign
Select item 1657424	NM_001330588.2(TPP2):c.195T>C (p.Val65=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
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 1352351	NM_001330588.2(TPP2):c.202A>G (p.Ile68Val)	TPP2 (I68V)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	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 2891197	NM_001330588.2(TPP2):c.222C>T (p.Gly74=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 2149854	NM_001330588.2(TPP2):c.222C>A (p.Gly74=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 956392	NM_001330588.2(TPP2):c.233C>T (p.Thr78Ile)	TPP2 (T78I)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 1350631	NM_001330588.2(TPP2):c.256G>C (p.Asp86His)	TPP2 (D86H)	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 3032764	NM_001330588.2(TPP2):c.264G>A (p.Glu88=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	TPP2-related condition	GLikely benign
Select item 2713685	NM_001330588.2(TPP2):c.267T>G (p.Ile89Met)	TPP2 (I89M)	Single nucleotide variant (missense variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GUncertain significance
Select item 2115377	NM_001330588.2(TPP2):c.267T>C (p.Ile89=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1161477	NM_001330588.2(TPP2):c.288G>A (p.Val96=)	TPP2	Single nucleotide variant (synonymous variant +1 more)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
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 1662040	NM_001330588.2(TPP2):c.294+7C>T	TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1563627	NM_001330588.2(TPP2):c.295-19A>C	TPP2	Single nucleotide variant (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GLikely benign
Select item 1560809	NM_001330588.2(TPP2):c.295-7dup	TPP2	Duplication (intron variant)	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	GBenign

<< First< Prev

Page of 8