PEPD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	LOC130064198, LOC132090533 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	FXYD7, GARRE1 +193 more	Copy number loss	See cases	GPathogenic
Select item 328775	NM_000285.4(PEPD):c.336_339dup	PEPD	Duplication (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328776	NM_000285.4(PEPD):c.333_337dup	PEPD	Duplication (3 prime UTR variant)	Prolidase deficiency	GBenign
Select item 892492	NM_000285.4(PEPD):c.*275C>G	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 892493	NM_000285.4(PEPD):c.*225T>A	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328777	NM_000285.4(PEPD):c.*211T>C	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency +1 more	GBenign
Select item 328778	NM_000285.4(PEPD):c.175_178dup	PEPD	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328779	NM_000285.4(PEPD):c.*155G>A	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 889119	NM_000285.4(PEPD):c.*127T>C	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 889120	NM_000285.4(PEPD):c.*96G>A	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328780	NM_000285.4(PEPD):c.*53C>T	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GBenign
Select item 328781	NM_000285.4(PEPD):c.*52T>C	PEPD	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 328782	NM_000285.4(PEPD):c.*40T>A	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 3044382	NM_000285.4(PEPD):c.*2G>T	PEPD	Single nucleotide variant (3 prime UTR variant)	PEPD-related condition	GLikely benign
Select item 328783	NM_000285.4(PEPD):c.1470T>C (p.Ser490=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1483906	NM_000285.4(PEPD):c.1463C>G (p.Pro488Arg)	PEPD (P424R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2992264	NM_000285.4(PEPD):c.1461C>G (p.Thr487=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696795	NM_000285.4(PEPD):c.1461C>T (p.Thr487=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510909	NM_000285.4(PEPD):c.1460C>T (p.Thr487Ile)	PEPD (T423I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579315	NM_000285.4(PEPD):c.1455C>T (p.Ala485=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410423	NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp)	PEPD (A485D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2073969	NM_000285.4(PEPD):c.1451A>C (p.Lys484Thr)	PEPD (K420T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722274	NM_000285.4(PEPD):c.1442G>T (p.Gly481Val)	PEPD (G440V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1356741	NM_000285.4(PEPD):c.1435A>G (p.Met479Val)	PEPD (M438V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683487	NM_000285.4(PEPD):c.1433G>A (p.Cys478Tyr)	PEPD (C414Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161788	NM_000285.4(PEPD):c.1431A>G (p.Ala477=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901196	NM_000285.4(PEPD):c.1422G>A (p.Glu474=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3211409	NM_000285.4(PEPD):c.1420G>A (p.Glu474Lys)	PEPD (E410K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 889121	NM_000285.4(PEPD):c.1414G>A (p.Val472Met)	PEPD (V408M +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GUncertain significance
Select item 1010348	NM_000285.4(PEPD):c.1409G>A (p.Arg470His)	PEPD (R406H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160305	NM_000285.4(PEPD):c.1402G>A (p.Val468Met)	PEPD (V468M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2999187	NM_000285.4(PEPD):c.1401C>T (p.Cys467=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585066	NM_000285.4(PEPD):c.1392G>T (p.Leu464=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328784	NM_000285.4(PEPD):c.1385T>C (p.Ile462Thr)	PEPD (I462T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1918310	NM_000285.4(PEPD):c.1380C>A (p.Ser460Arg)	PEPD (S460R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154809	NM_000285.4(PEPD):c.1374T>G (p.Thr458=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764767	NM_000285.4(PEPD):c.1371G>A (p.Val457=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057840	NM_000285.4(PEPD):c.1366G>A (p.Val456Met)	PEPD (V392M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720301	NM_000285.4(PEPD):c.1365C>G (p.Val455=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328785	NM_000285.4(PEPD):c.1365C>T (p.Val455=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency	GUncertain significance
Select item 1391035	NM_000285.4(PEPD):c.1363G>A (p.Val455Ile)	PEPD (V414I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214	NM_000285.4(PEPD):c.1356GGA[1] (p.Glu453del)	PEPD (E453del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2154006	NM_000285.4(PEPD):c.1359G>C (p.Glu453Asp)	PEPD (E412D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510807	NM_000285.4(PEPD):c.1354G>A (p.Glu452Lys)	PEPD (E411K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889807	NM_000285.4(PEPD):c.1353C>T (p.Ile451=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2783315	NM_000285.4(PEPD):c.1350C>A (p.Arg450=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808508	NM_000285.4(PEPD):c.1345-1G>A	PEPD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2731983	NM_000285.4(PEPD):c.1345-8T>C	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727281	NM_000285.4(PEPD):c.1345-10C>G	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770077	NM_000285.4(PEPD):c.1345-11G>A	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328786	NM_000285.4(PEPD):c.1345-11G>C	PEPD	Single nucleotide variant (intron variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1362032	NM_000285.4(PEPD):c.1345-12G>A	PEPD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1589701	NM_000285.4(PEPD):c.1345-13C>T	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949985	NM_000285.4(PEPD):c.1345-16dup	PEPD	Duplication (intron variant)	not provided	GLikely benign
Select item 1624902	NM_000285.4(PEPD):c.1345-17C>G	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947382	NM_000285.4(PEPD):c.1345-18T>C	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636455	NM_000285.4(PEPD):c.1345-23GT[2]	PEPD	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2877467	NM_000285.4(PEPD):c.1345-19G>A	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600638	NM_000285.4(PEPD):c.1345-20T>A	PEPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 209	NM_000285.3(PEPD):c.1153_1344del (p.Gly385_Gly448del)	PEPD	Deletion	Prolidase deficiency	GPathogenic
Select item 1611971	NM_000285.4(PEPD):c.1344+15del	PEPD	Deletion (intron variant)	not provided	GLikely benign
Select item 889808	NM_000285.4(PEPD):c.1344+13G>A	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1642199	NM_000285.4(PEPD):c.1344+12C>T	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961320	NM_000285.4(PEPD):c.1344+10C>A	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891848	NM_000285.4(PEPD):c.1344+10C>T	PEPD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883172	NM_000285.4(PEPD):c.1344+4_1344+7dup	PEPD	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2124789	NM_000285.4(PEPD):c.1344+1G>A	PEPD	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 213	NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)	PEPD (G448R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2146684	NM_000285.4(PEPD):c.1341C>T (p.Gly447=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427640	NM_000285.4(PEPD):c.1333G>A (p.Gly445Ser)	PEPD (G404S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918886	NM_000285.4(PEPD):c.1332C>T (p.Arg444=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047368	NM_000285.4(PEPD):c.1331G>A (p.Arg444His)	PEPD (R380H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422725	NM_000285.4(PEPD):c.1330C>T (p.Arg444Cys)	PEPD (R380C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328787	NM_000285.4(PEPD):c.1329T>C (p.Phe443=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GLikely benign
Select item 726285	NM_000285.4(PEPD):c.1325G>A (p.Arg442His)	PEPD (R378H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889809	NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys)	PEPD (R378C +2 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GUncertain significance
Select item 1445002	NM_000285.4(PEPD):c.1323G>C (p.Gln441His)	PEPD (Q441H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822050	NM_000285.4(PEPD):c.1318C>T (p.Leu440=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328788	NM_000285.4(PEPD):c.1317C>T (p.Val439=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1376254	NM_000285.4(PEPD):c.1313A>G (p.Glu438Gly)	PEPD (E374G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471390	NM_000285.4(PEPD):c.1312G>A (p.Glu438Lys)	PEPD (E397K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1119917	NM_000285.4(PEPD):c.1311C>A (p.Arg437=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328789	NM_000285.4(PEPD):c.1311C>T (p.Arg437=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1715842	NM_000285.4(PEPD):c.1310G>T (p.Arg437Leu)	PEPD (R373L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426531	NM_000285.4(PEPD):c.1310G>A (p.Arg437His)	PEPD (R396H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346611	NM_000285.4(PEPD):c.1309C>G (p.Arg437Gly)	PEPD (R373G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328790	NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys)	PEPD (R437C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2778883	NM_000285.4(PEPD):c.1308C>T (p.Asn436=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869763	NM_000285.4(PEPD):c.1305_1306insCTTT (p.Asn436delinsLeuTer)	PEPD	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2775572	NM_000285.4(PEPD):c.1302_1305del (p.Phe434fs)	PEPD (F393fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2161330	NM_000285.4(PEPD):c.1305T>G (p.Leu435=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419285	NM_000285.4(PEPD):c.1302_1304del (p.Leu435del)	PEPD (L371del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 328791	NM_000285.4(PEPD):c.1303C>T (p.Leu435Phe)	PEPD (L435F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 746040	NM_000285.4(PEPD):c.1296C>G (p.Ala432=)	PEPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787004	NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)	PEPD (A432T +2 more)	Single nucleotide variant (missense variant)	PEPD-related condition +2 more	GConflicting classifications of pathogenicity

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