ClinVar for MedGen (Select 120647) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1485637	NM_000285.4(PEPD):c.819-1G>A	PEPD	Single nucleotide variant (splice acceptor variant)	Prolidase deficiency +1 more	GLikely pathogenic
Select item 1460757	NM_000285.4(PEPD):c.858C>T (p.Ser286=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GLikely benign
Select item 1450911	NM_000285.4(PEPD):c.859G>A (p.Asp287Asn)	PEPD (D223N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440927	NM_000285.4(PEPD):c.550C>T (p.Arg184Ter)	PEPD (R120* +1 more)	Single nucleotide variant (nonsense +1 more)	Prolidase deficiency +1 more	GPathogenic
Select item 1421556	NM_000285.4(PEPD):c.697C>T (p.Arg233Trp)	PEPD (R169W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1327989	NM_000285.4(PEPD):c.825del (p.Phe275fs)	PEPD (F211fs +2 more)	Deletion (frameshift variant)	Prolidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1324875	NM_000285.4(PEPD):c.418A>T (p.Lys140Ter)	PEPD (K140* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1299536	NM_000285.4(PEPD):c.549-1G>T	PEPD	Single nucleotide variant (splice acceptor variant +1 more)	Prolidase deficiency	GPathogenic
Select item 1299535	NM_000285.4(PEPD):c.2T>G (p.Met1Arg)	PEPD (M1R)	Single nucleotide variant (missense variant +1 more)	Prolidase deficiency	GPathogenic
Select item 1028669	NM_000285.4(PEPD):c.376G>A (p.Val126Ile)	PEPD (V126I)	Single nucleotide variant (missense variant +1 more)	Prolidase deficiency +1 more	GUncertain significance
Select item 1014666	NM_000285.4(PEPD):c.778G>A (p.Gly260Arg)	PEPD (G196R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892558	NM_000285.4(PEPD):c.1125C>T (p.Asp375=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892557	NM_000285.4(PEPD):c.1134C>T (p.Asp378=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892493	NM_000285.4(PEPD):c.*225T>A	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 892492	NM_000285.4(PEPD):c.*275C>G	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 891673	NM_000285.4(PEPD):c.202-7G>A	PEPD	Single nucleotide variant (intron variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 891672	NM_000285.4(PEPD):c.331A>T (p.Ile111Phe)	PEPD (I111F)	Single nucleotide variant (missense variant +1 more)	Prolidase deficiency	GUncertain significance
Select item 891671	NM_000285.4(PEPD):c.393G>A (p.Glu131=)	PEPD	Single nucleotide variant (synonymous variant +1 more)	Prolidase deficiency +1 more	GUncertain significance
Select item 891420	NM_000285.4(PEPD):c.402C>T (p.Ser134=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891362	NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln)	PEPD (R331Q +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 889883	NM_000285.4(PEPD):c.678C>T (p.Phe226=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889882	NM_000285.4(PEPD):c.736G>A (p.Gly246Ser)	PEPD (G182S +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency	GUncertain significance
Select item 889809	NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys)	PEPD (R378C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 889807	NM_000285.4(PEPD):c.1353C>T (p.Ile451=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889199	NM_000285.4(PEPD):c.757G>A (p.Val253Met)	PEPD (V212M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889198	NM_000285.4(PEPD):c.1079G>A (p.Gly360Glu)	PEPD (G360E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889121	NM_000285.4(PEPD):c.1414G>A (p.Val472Met)	PEPD (V408M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 889119	NM_000285.4(PEPD):c.*127T>C	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 807650	NM_000285.4(PEPD):c.540del (p.Ile180fs)	PEPD (I116fs +1 more)	Deletion (frameshift variant)	Prolidase deficiency	GPathogenic
Select item 807649	NM_000285.4(PEPD):c.549-1G>A	PEPD	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 804428	NM_000285.4(PEPD):c.504-1G>A	PEPD	Single nucleotide variant (splice acceptor variant)	Prolidase deficiency +1 more	GLikely pathogenic
Select item 788351	NM_000285.4(PEPD):c.100C>T (p.Leu34=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 787004	NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)	PEPD (A432T +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 782167	NM_000285.4(PEPD):c.1256A>G (p.Asp419Gly)	PEPD (D355G +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GBenign/Likely benign
Select item 781447	NM_000285.4(PEPD):c.863T>C (p.Ile288Thr)	PEPD (I247T +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GBenign
Select item 596684	NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)	PEPD (R35Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522945	NM_000285.4(PEPD):c.393+4G>A	PEPD	Single nucleotide variant (intron variant)	Prolidase deficiency	GUncertain significance
Select item 328828	NM_000285.3(PEPD):c.-130T>C	PEPD	Single nucleotide variant	Prolidase deficiency	GUncertain significance
Select item 328827	NM_000285.3(PEPD):c.-61A>G	PEPD	Single nucleotide variant	Prolidase deficiency	GUncertain significance
Select item 328826	NM_000285.3(PEPD):c.-38T>C	PEPD	Single nucleotide variant	Prolidase deficiency	GUncertain significance
Select item 328825	NM_000285.4(PEPD):c.-30C>G	PEPD	Single nucleotide variant (5 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328824	NM_000285.4(PEPD):c.-5C>T	PEPD	Single nucleotide variant (5 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328823	NM_000285.4(PEPD):c.-1C>T	PEPD	Single nucleotide variant (5 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328822	NM_000285.4(PEPD):c.259G>A (p.Asp87Asn)	PEPD (D87N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328821	NM_000285.4(PEPD):c.279G>A (p.Ser93=)	PEPD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328820	NM_000285.4(PEPD):c.427G>A (p.Val143Ile)	PEPD (V143I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 328819	NM_000285.4(PEPD):c.447C>T (p.Gly149=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 328818	NM_000285.4(PEPD):c.448G>A (p.Val150Ile)	PEPD (V150I +1 more)	Single nucleotide variant (missense variant)	Prolidase deficiency	GUncertain significance
Select item 328817	NM_000285.4(PEPD):c.456G>A (p.Thr152=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 328816	NM_000285.4(PEPD):c.462C>T (p.Ser154=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328815	NM_000285.4(PEPD):c.492C>T (p.Asp164=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328814	NM_000285.4(PEPD):c.504-9G>A	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 328813	NM_000285.4(PEPD):c.624+15G>A	PEPD	Single nucleotide variant (intron variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 328812	NM_000285.4(PEPD):c.660T>C (p.Tyr220=)	PEPD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 328811	NM_000285.4(PEPD):c.672-9C>G	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328810	NM_000285.4(PEPD):c.692_694del (p.Tyr231del)	PEPD (Y231del +2 more)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 328809	NM_000285.4(PEPD):c.710G>A (p.Arg237His)	PEPD (R237H +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GUncertain significance
Select item 328808	NM_000285.4(PEPD):c.744T>C (p.Gly248=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 328807	NM_000285.4(PEPD):c.751T>A (p.Ser251Thr)	PEPD (S251T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 328806	NM_000285.4(PEPD):c.819-4G>A	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328805	NM_000285.4(PEPD):c.834C>T (p.Gly278=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328804	NM_000285.4(PEPD):c.946G>A (p.Val316Ile)	PEPD (V316I +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GUncertain significance
Select item 328803	NM_000285.4(PEPD):c.967+10G>A	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328802	NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser)	PEPD (G349S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 328801	NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu)	PEPD (P365L +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +2 more	GUncertain significance
Select item 328800	NM_000285.4(PEPD):c.1098C>T (p.His366=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GBenign/Likely benign
Select item 328799	NM_000285.4(PEPD):c.1131C>T (p.His377=)	PEPD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 328798	NM_000285.4(PEPD):c.1153-6C>T	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328797	NM_000285.4(PEPD):c.1156G>A (p.Val386Met)	PEPD (V386M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 328796	NM_000285.4(PEPD):c.1163G>A (p.Arg388His)	PEPD (R388H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 328795	NM_000285.4(PEPD):c.1171G>A (p.Glu391Lys)	PEPD (E391K +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency	GUncertain significance
Select item 328794	NM_000285.4(PEPD):c.1281G>A (p.Ala427=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 328793	NM_000285.4(PEPD):c.1291C>T (p.Arg431Cys)	PEPD (R431C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 328792	NM_000285.4(PEPD):c.1292G>A (p.Arg431His)	PEPD (R431H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 328790	NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys)	PEPD (R437C +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +1 more	GUncertain significance
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 328788	NM_000285.4(PEPD):c.1317C>T (p.Val439=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GBenign
Select item 328787	NM_000285.4(PEPD):c.1329T>C (p.Phe443=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 328786	NM_000285.4(PEPD):c.1345-11G>C	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328785	NM_000285.4(PEPD):c.1365C>T (p.Val455=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency	GUncertain significance
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 328783	NM_000285.4(PEPD):c.1470T>C (p.Ser490=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +1 more	GBenign/Likely benign
Select item 328782	NM_000285.4(PEPD):c.*40T>A	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 328781	NM_000285.4(PEPD):c.*52T>C	PEPD	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 328780	NM_000285.4(PEPD):c.*53C>T	PEPD	Single nucleotide variant (3 prime UTR variant)	Prolidase deficiency	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 328778	NM_000285.4(PEPD):c.175_178dup	PEPD	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328777	NM_000285.4(PEPD):c.*211T>C	PEPD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328776	NM_000285.4(PEPD):c.333_337dup	PEPD	Duplication (3 prime UTR variant)	Prolidase deficiency	GBenign
Select item 328775	NM_000285.4(PEPD):c.336_339dup	PEPD	Duplication (3 prime UTR variant)	Prolidase deficiency	GUncertain significance
Select item 209998	NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg)	PEPD (L368R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 209997	NM_000285.4(PEPD):c.634G>C (p.Ala212Pro)	PEPD (A212P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 218	NM_000285.4(PEPD):c.605C>T (p.Ser202Phe)	PEPD (S202F +1 more)	Single nucleotide variant (missense variant +1 more)	Prolidase deficiency	GPathogenic
Select item 217	NM_000285.4(PEPD):c.611_623dup (p.Glu208_Val209insGlyProProTer)	PEPD	Duplication (nonsense +2 more)	not provided	GPathogenic
Select item 216	NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys)	PEPD (E412K +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency	GPathogenic
Select item 215	NM_000285.4(PEPD):c.793C>T (p.Arg265Ter)	PEPD (R265* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 214	NM_000285.4(PEPD):c.1356GGA[1] (p.Glu453del)	PEPD (E453del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

<< First< Prev

Page of 2