PRODH[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 380

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298044	NM_016335.6(PRODH):c.*19T>C	PRODH	Single nucleotide variant (3 prime UTR variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1525048	NM_016335.6(PRODH):c.1803G>A (p.Ter601=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2182392	NM_016335.6(PRODH):c.1793G>A (p.Arg598His)	PRODH (R490H +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2172236	NM_016335.6(PRODH):c.1792C>T (p.Arg598Cys)	PRODH (R598C +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2196333	NM_016335.6(PRODH):c.1791T>G (p.His597Gln)	PRODH (H597Q +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2435255	NM_016335.6(PRODH):c.1786T>C (p.Phe596Leu)	PRODH (F488L +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1016144	NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln)	PRODH (R483Q +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 2225230	NM_016335.6(PRODH):c.1765C>T (p.Arg589Trp)	PRODH (R589W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1036595	NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys)	PRODH (R480K +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 2889435	NM_016335.6(PRODH):c.1758C>T (p.Leu586=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 3007344	NM_016335.6(PRODH):c.1748G>T (p.Trp583Leu)	PRODH (W583L +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 127267	NM_016335.6(PRODH):c.1741C>T (p.Leu581=)	PRODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1214571	NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp)	PRODH (R469W +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2006393	NM_016335.6(PRODH):c.1704C>T (p.Asn568=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1931036	NM_016335.6(PRODH):c.1674G>A (p.Leu558=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1949551	NM_016335.6(PRODH):c.1660G>A (p.Val554Met)	PRODH (V446M +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 1660950	NM_016335.6(PRODH):c.1659C>T (p.Pro553=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 522067	NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser)	PRODH (Y551S +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2228196	NM_016335.6(PRODH):c.1645G>A (p.Val549Met)	PRODH (V549M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2892154	NM_016335.6(PRODH):c.1644C>T (p.Tyr548=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2074035	NM_016335.6(PRODH):c.1633G>A (p.Val545Met)	PRODH (V437M +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2084915	NM_016335.6(PRODH):c.1632C>T (p.Pro544=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1166479	NM_016335.6(PRODH):c.1623C>T (p.Ala541=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 459913	NM_016335.6(PRODH):c.1623C>G (p.Ala541=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +2 more	GBenign
Select item 2720464	NM_016335.6(PRODH):c.1617C>T (p.Gly539=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1984698	NM_016335.6(PRODH):c.1616-4G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1943048	NM_016335.6(PRODH):c.1616-16A>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2090137	NM_016335.6(PRODH):c.1616-20G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2854811	NM_016335.6(PRODH):c.1615+20G>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2817030	NM_016335.6(PRODH):c.1615+20G>C	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2118246	NM_016335.6(PRODH):c.1615+13C>G	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1683356	NM_016335.6(PRODH):c.1615+1G>C	PRODH	Single nucleotide variant (splice donor variant)	not specified +2 more	GUncertain significance
Select item 1714801	NM_016335.6(PRODH):c.1612C>A (p.Leu538Met)	PRODH (L430M +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2065882	NM_016335.6(PRODH):c.1611G>A (p.Pro537=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1303133	NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)	PRODH (Q418* +1 more)	Single nucleotide variant (nonsense)	Schizophrenia 4 +2 more	GUncertain significance
Select item 1168803	NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln)	PRODH (R413Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 4010	NM_016335.6(PRODH):c.1562= (p.Arg521=)	PRODH	Single nucleotide variant (no sequence alteration)	Proline dehydrogenase deficiency	GBenign
Select item 4012	NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly)	PRODH (R521G +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GPathogenic
Select item 1599105	NM_016335.6(PRODH):c.1560C>T (p.His520=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GBenign
Select item 1938923	NM_016335.6(PRODH):c.1558C>T (p.His520Tyr)	PRODH (H520Y +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2092967	NM_016335.6(PRODH):c.1544T>G (p.Leu515Arg)	PRODH (L407R +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2652851	NM_016335.6(PRODH):c.1543C>T (p.Leu515=)	PRODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075823	NM_016335.6(PRODH):c.1531G>A (p.Glu511Lys)	PRODH (E403K +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1378661	NM_016335.6(PRODH):c.1527-3C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2912014	NM_016335.6(PRODH):c.1527-9C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2198940	NM_016335.6(PRODH):c.1527-11C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2143776	NM_016335.6(PRODH):c.1527-19C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1223981	NM_016335.6(PRODH):c.1527-51T>C	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268169	NM_016335.6(PRODH):c.1527-251C>T	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289908	NM_016335.6(PRODH):c.1527-294AG[2]	PRODH	Microsatellite (intron variant)	not provided	GBenign
Select item 1261582	NM_016335.6(PRODH):c.1526+263T>G	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286884	NM_016335.6(PRODH):c.1526+259C>T	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989557	NM_016335.6(PRODH):c.1526+15C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2076123	NM_016335.6(PRODH):c.1515_1516inv (p.Ala506Thr)	PRODH (A398T +1 more)	Inversion (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1169511	NM_016335.6(PRODH):c.1515T>C (p.Phe505=)	PRODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3000230	NM_016335.6(PRODH):c.1497T>A (p.Asn499Lys)	PRODH (N391K +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 853698	NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)	PRODH (A383S +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1111475	NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr)	PRODH (A381T +1 more)	Single nucleotide variant (missense variant)	Schizophrenia 4 +1 more	GLikely benign
Select item 2154721	NM_016335.6(PRODH):c.1464C>T (p.Asn488=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 702032	NM_016335.6(PRODH):c.1463A>G (p.Asn488Ser)	PRODH (N380S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 459912	NM_016335.6(PRODH):c.1440C>T (p.Tyr480=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1947430	NM_016335.6(PRODH):c.1428-15T>C	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1264619	NM_016335.6(PRODH):c.1428-105A>C	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257025	NM_016335.6(PRODH):c.1428-142C>T	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286526	NM_016335.6(PRODH):c.1428-248C>T	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183673	NM_016335.6(PRODH):c.1428-249A>C	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296675	NM_016335.6(PRODH):c.1427+306G>A	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225701	NM_016335.6(PRODH):c.1427+273C>T	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280461	NM_016335.6(PRODH):c.1427+230T>C	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179643	NM_016335.6(PRODH):c.1427+223C>G	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274840	NM_016335.6(PRODH):c.1427+205C>T	PRODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2199819	NM_016335.6(PRODH):c.1427+20C>G	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 623972	NM_016335.6(PRODH):c.1427+8G>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 2076465	NM_016335.6(PRODH):c.1427+4C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 529418	NM_016335.6(PRODH):c.1418T>C (p.Met473Thr)	PRODH (M473T +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1168804	NM_016335.6(PRODH):c.1414G>A (p.Ala472Thr)	PRODH (A364T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2048926	NM_016335.6(PRODH):c.1413C>T (p.Asn471=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1183728	NM_016335.6(PRODH):c.1411A>G (p.Asn471Asp)	PRODH (N363D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847648	NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)	PRODH (E468K +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 1166555	NM_016335.6(PRODH):c.1401C>T (p.Tyr467=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 1603743	NM_016335.6(PRODH):c.1398G>A (p.Thr466=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GBenign
Select item 849233	NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)	PRODH (T466K +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 4013	NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)	PRODH (T466M +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2907717	NM_016335.6(PRODH):c.1395C>T (p.Pro465=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 1449126	NM_016335.6(PRODH):c.1390A>C (p.Asn464His)	PRODH (N356H +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1980185	NM_016335.6(PRODH):c.1386C>A (p.Pro462=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 459911	NM_016335.6(PRODH):c.1374C>A (p.Gly458=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1916531	NM_016335.6(PRODH):c.1373G>A (p.Gly458Asp)	PRODH (G350D +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 954759	NM_016335.6(PRODH):c.1362_1363delinsAT (p.Ala455Ser)	PRODH (A455S +1 more)	Indel (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 4009	NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)	PRODH (A455S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 459910	NM_016335.6(PRODH):c.1362G>A (p.Ala454=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 4006	NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)	PRODH (R453C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2048908	NM_016335.6(PRODH):c.1350G>T (p.Glu450Asp)	PRODH (E450D +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2110409	NM_016335.6(PRODH):c.1344C>G (p.Ala448=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2072939	NM_016335.6(PRODH):c.1328G>A (p.Arg443Gln)	PRODH (R335Q +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 1312924	NM_016335.6(PRODH):c.1322T>A (p.Leu441Gln)	PRODH (L333Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4008	NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	PRODH (L441P +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2194315	NM_016335.6(PRODH):c.1310T>C (p.Phe437Ser)	PRODH (F329S +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1971087	NM_016335.6(PRODH):c.1301G>A (p.Gly434Asp)	PRODH (G326D +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 1000921	NM_016335.6(PRODH):c.1295G>A (p.Arg432His)	PRODH (R324H +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +2 more	GUncertain significance

<< First< Prev

Page of 4