ClinVar for OMIM (Select 239500) - ClinVar - NCBI

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

Links from OMIM

Items: 1 to 100 of 302

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013660	NM_016335.6(PRODH):c.1251+7C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 3007344	NM_016335.6(PRODH):c.1748G>T (p.Trp583Leu)	PRODH (W499L +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 3000230	NM_016335.6(PRODH):c.1497T>A (p.Asn499Lys)	PRODH (N391K +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2989331	NM_016335.6(PRODH):c.18C>A (p.Ala6=)	PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2916786	NM_016335.6(PRODH):c.175C>T (p.Gln59Ter)	PRODH (Q59*)	Single nucleotide variant (nonsense +1 more)	Proline dehydrogenase deficiency	GPathogenic
Select item 2914197	NM_016335.6(PRODH):c.1012-15G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2912014	NM_016335.6(PRODH):c.1527-9C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2910566	NM_016335.6(PRODH):c.193C>T (p.Arg65Trp)	PRODH (R65W)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
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 2901529	NM_016335.6(PRODH):c.730C>T (p.Leu244=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2900693	NM_016335.6(PRODH):c.123G>A (p.Gly41=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2897986	NM_016335.6(PRODH):c.930-14G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
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 2891634	NM_016335.6(PRODH):c.187C>T (p.Arg63Cys)	PRODH (R63C)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2891196	NM_016335.6(PRODH):c.6T>C (p.Ala2=)	HSERVPRODH, PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	GLikely benign
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 2883753	NM_016335.6(PRODH):c.553_554inv (p.Trp185Gln)	PRODH (W77Q +1 more)	Inversion (missense variant)	Proline dehydrogenase deficiency	GBenign
Select item 2876938	NM_016335.6(PRODH):c.456C>G (p.Pro152=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2874219	NM_016335.6(PRODH):c.369G>A (p.Gln123=)	PRODH	Single nucleotide variant (synonymous 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 2827448	NM_016335.6(PRODH):c.336C>T (p.Thr112=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2818426	NM_016335.6(PRODH):c.1049A>G (p.Glu350Gly)	PRODH (E350G +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2817030	NM_016335.6(PRODH):c.1615+20G>C	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2796779	NM_016335.6(PRODH):c.10A>C (p.Arg4=)	HSERVPRODH, PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2796196	NM_016335.6(PRODH):c.482+15G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2778989	NM_016335.6(PRODH):c.518-4C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2724873	NM_016335.6(PRODH):c.1152C>G (p.Thr384=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
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 2716423	NM_016335.6(PRODH):c.129C>G (p.Ala43=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2713384	NM_016335.6(PRODH):c.18C>T (p.Ala6=)	PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2682549	NC_000022.10:g.(?_18900293)_(18923807_?)del	PRODH	Deletion	Proline dehydrogenase deficiency	GPathogenic
Select item 2435258	NM_016335.6(PRODH):c.850-10A>G	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2435257	NM_016335.6(PRODH):c.427G>T (p.Asp143Tyr)	PRODH (D143Y +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2435256	NM_016335.6(PRODH):c.934A>G (p.Met312Val)	PRODH (M204V +2 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 +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2435254	NM_016335.6(PRODH):c.485C>A (p.Ser162Tyr)	PRODH (S162Y +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2426294	NC_000022.10:g.(?_18900688)_(18923800_?)dup	PRODH	Duplication	Proline dehydrogenase deficiency	GUncertain significance
Select item 2426293	NC_000022.10:g.(?_18906944)_(18923800_?)dup	PRODH	Duplication	Proline dehydrogenase deficiency	GUncertain significance
Select item 2426292	NC_000022.10:g.(?_18900688)_(18904521_?)dup	PRODH	Duplication	Proline dehydrogenase deficiency	GUncertain significance
Select item 2420553	NM_016335.6(PRODH):c.733C>T (p.Leu245=)	PRODH	Single nucleotide variant (synonymous variant)	not specified +1 more	GUncertain significance
Select item 2420401	NM_016335.6(PRODH):c.273+16G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2415710	NM_016335.6(PRODH):c.668-5G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2414780	NM_016335.6(PRODH):c.81C>A (p.Arg27=)	PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2414367	NM_016335.6(PRODH):c.483-10C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2201654	NM_016335.6(PRODH):c.1104+2T>C	PRODH	Single nucleotide variant (splice donor variant)	Proline dehydrogenase deficiency	GLikely pathogenic
Select item 2199819	NM_016335.6(PRODH):c.1427+20C>G	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 2198915	NM_016335.6(PRODH):c.255G>C (p.Leu85=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2196333	NM_016335.6(PRODH):c.1791T>G (p.His597Gln)	PRODH (H513Q +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2194315	NM_016335.6(PRODH):c.1310T>C (p.Phe437Ser)	PRODH (F329S +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2193823	NM_016335.6(PRODH):c.249C>G (p.Pro83=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2191187	NM_016335.6(PRODH):c.510T>A (p.Asp170Glu)	PRODH (D62E +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2190977	NM_016335.6(PRODH):c.767G>T (p.Cys256Phe)	PRODH (C256F +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2190641	NM_016335.6(PRODH):c.418G>A (p.Ala140Thr)	PRODH (A32T +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2187005	NM_016335.6(PRODH):c.296T>G (p.Leu99Arg)	PRODH (L99R +1 more)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2182392	NM_016335.6(PRODH):c.1793G>A (p.Arg598His)	PRODH (R514H +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2181050	NM_016335.6(PRODH):c.858C>T (p.Val286=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2177989	NM_016335.6(PRODH):c.1127G>A (p.Arg376Gln)	PRODH (R292Q +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2172236	NM_016335.6(PRODH):c.1792C>T (p.Arg598Cys)	PRODH (R598C +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2169299	NM_016335.6(PRODH):c.611A>G (p.Asn204Ser)	PRODH (N120S +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2167860	NM_016335.6(PRODH):c.457del (p.Glu153fs)	PRODH (E153fs +1 more)	Deletion (frameshift variant)	Proline dehydrogenase deficiency	GPathogenic
Select item 2166769	NM_016335.6(PRODH):c.38dup (p.Cys13fs)	PRODH (C13fs)	Duplication (frameshift variant +1 more)	Proline dehydrogenase deficiency	GPathogenic
Select item 2166192	NM_016335.6(PRODH):c.561C>T (p.Phe187=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2160461	NM_016335.6(PRODH):c.1105-13C>G	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2158332	NM_016335.6(PRODH):c.106G>A (p.Ala36Thr)	PRODH (A36T)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2158067	NM_016335.6(PRODH):c.482+13C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2157475	NM_016335.6(PRODH):c.1012-18C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2154807	NM_016335.6(PRODH):c.24C>T (p.Pro8=)	PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	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 2154251	NM_016335.6(PRODH):c.128C>T (p.Ala43Val)	PRODH (A43V)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2153978	NM_016335.6(PRODH):c.1012-16C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2144180	NM_016335.6(PRODH):c.732+14C>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2143972	NM_016335.6(PRODH):c.1251+6C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2143776	NM_016335.6(PRODH):c.1527-19C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2143144	NM_016335.6(PRODH):c.649C>T (p.Arg217Cys)	PRODH (R133C +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2137712	NM_016335.6(PRODH):c.679G>A (p.Asp227Asn)	PRODH (D227N +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2134144	NM_016335.6(PRODH):c.379C>T (p.Gln127Ter)	PRODH (Q127* +2 more)	Single nucleotide variant (nonsense)	Proline dehydrogenase deficiency	GPathogenic
Select item 2124727	NM_016335.6(PRODH):c.151C>T (p.Pro51Ser)	PRODH (P51S)	Single nucleotide variant (intron variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2118246	NM_016335.6(PRODH):c.1615+13C>G	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2114139	NM_016335.6(PRODH):c.1021C>T (p.Leu341=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2113421	NM_016335.6(PRODH):c.925T>C (p.Ser309Pro)	PRODH (S201P +2 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 2102666	NM_016335.6(PRODH):c.972G>A (p.Arg324=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2092967	NM_016335.6(PRODH):c.1544T>G (p.Leu515Arg)	PRODH (L407R +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2090137	NM_016335.6(PRODH):c.1616-20G>A	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GLikely benign
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 2081105	NM_016335.6(PRODH):c.69G>T (p.Ala23=)	PRODH	Single nucleotide variant (synonymous variant +2 more)	Proline dehydrogenase deficiency	GLikely benign
Select item 2080257	NM_016335.6(PRODH):c.1085G>A (p.Arg362Gln)	PRODH (R362Q +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2078808	NM_016335.6(PRODH):c.933C>T (p.Thr311=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2077640	NM_016335.6(PRODH):c.486C>G (p.Ser162=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	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 2076123	NM_016335.6(PRODH):c.1515_1516inv (p.Ala506Thr)	PRODH (A398T +1 more)	Inversion (synonymous variant +1 more)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2075823	NM_016335.6(PRODH):c.1531G>A (p.Glu511Lys)	PRODH (E403K +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2074457	NM_016335.6(PRODH):c.964G>A (p.Asp322Asn)	PRODH (D322N +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2074043	NM_016335.6(PRODH):c.612T>C (p.Asn204=)	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 +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2072939	NM_016335.6(PRODH):c.1328G>A (p.Arg443Gln)	PRODH (R335Q +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 2072877	NM_016335.6(PRODH):c.1182G>C (p.Thr394=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency	GLikely benign
Select item 2070093	NM_016335.6(PRODH):c.610A>G (p.Asn204Asp)	PRODH (N120D +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance
Select item 2069815	NM_016335.6(PRODH):c.350T>C (p.Phe117Ser)	PRODH (F9S +2 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency	GUncertain significance

<< First< Prev

Page of 4