ClinVar for MedGen (Select 371517) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683356	NM_016335.6(PRODH):c.1615+1G>C	PRODH	Single nucleotide variant (splice donor variant)	Proline dehydrogenase deficiency +2 more	GUncertain significance
Select item 1636609	NM_016335.6(PRODH):c.518-11C>T	PRODH	Single nucleotide variant (intron variant)	Schizophrenia 4 +1 more	GLikely benign
Select item 1621408	NM_016335.6(PRODH):c.873C>T (p.Ile291=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1613250	NM_016335.6(PRODH):c.606C>T (p.Tyr202=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1603958	NM_016335.6(PRODH):c.517+19C>T	PRODH	Single nucleotide variant (intron variant)	Schizophrenia 4 +1 more	GBenign/Likely benign
Select item 1603918	NM_016335.6(PRODH):c.1104+16C>T	PRODH	Single nucleotide variant (intron variant)	Schizophrenia 4 +1 more	GBenign/Likely benign
Select item 1599406	NM_016335.6(PRODH):c.1170C>T (p.Ile390=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1594665	NM_016335.6(PRODH):c.1143C>T (p.Ala381=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1549874	NM_016335.6(PRODH):c.174G>T (p.Ala58=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1545570	NM_016335.6(PRODH):c.90C>T (p.Pro30=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1507712	NM_016335.6(PRODH):c.319A>G (p.Lys107Glu)	PRODH (K107E)	Single nucleotide variant (5 prime UTR variant +1 more)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 1466893	NM_016335.6(PRODH):c.930-1G>C	PRODH	Single nucleotide variant (splice acceptor variant)	Proline dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1415486	NM_016335.6(PRODH):c.1A>G (p.Met1Val)	HSERVPRODH, PRODH (M1V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1371336	NM_016335.6(PRODH):c.268G>A (p.Glu90Lys)	PRODH (E90K)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency +1 more	GUncertain significance
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 1214571	NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp)	PRODH (R469W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1179165	GRCh37/hg19 22q11.21(chr22:18900895-18923882)	PRODH	Copy number loss	Proline dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 1179113	GRCh37/hg19 22q11.21(chr22:18900294-18923806)	PRODH	Copy number loss	Proline dehydrogenase deficiency +1 more	GPathogenic
Select item 1168803	NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln)	PRODH (R413Q +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1166601	NM_016335.6(PRODH):c.1278C>T (p.Asp426=)	PRODH	Single nucleotide variant (synonymous variant)	Schizophrenia 4 +1 more	GBenign/Likely benign
Select item 1166555	NM_016335.6(PRODH):c.1401C>T (p.Tyr467=)	PRODH	Single nucleotide variant (synonymous variant)	Schizophrenia 4 +1 more	GBenign/Likely benign
Select item 1166314	NM_016335.6(PRODH):c.1252-14C>T	PRODH	Single nucleotide variant (intron variant)	Schizophrenia 4 +1 more	GBenign
Select item 1164435	NM_016335.6(PRODH):c.822C>T (p.Asp274=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1164202	NM_016335.6(PRODH):c.930-15C>T	PRODH	Single nucleotide variant (intron variant)	Schizophrenia 4 +1 more	GBenign/Likely benign
Select item 1152254	NM_016335.6(PRODH):c.780A>G (p.Gln260=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1147406	NM_016335.6(PRODH):c.87G>A (p.Gln29=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1139703	NM_016335.6(PRODH):c.270G>A (p.Glu90=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1111475	NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr)	PRODH (A381T +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1105767	NM_016335.6(PRODH):c.54C>T (p.Val18=)	PRODH	Single nucleotide variant (synonymous variant +1 more)	Proline dehydrogenase deficiency +1 more	GLikely benign
Select item 1061159	NM_016335.6(PRODH):c.578G>A (p.Gly193Asp)	PRODH (G193D +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +2 more	GUncertain significance
Select item 1045280	NM_016335.6(PRODH):c.392G>A (p.Arg131Gln)	PRODH (R23Q +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	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 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 1000921	NM_016335.6(PRODH):c.1295G>A (p.Arg432His)	PRODH (R324H +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 945607	NM_016335.6(PRODH):c.803C>T (p.Ala268Val)	PRODH (A268V +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	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 840461	NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)	PRODH (T286M +1 more)	Single nucleotide variant (missense variant)	Schizophrenia 4 +1 more	GUncertain significance
Select item 702852	NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)	PRODH (P406L +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 661118	NM_016335.6(PRODH):c.1093G>A (p.Val365Ile)	PRODH (V365I +1 more)	Single nucleotide variant (missense variant)	Schizophrenia 4 +1 more	GUncertain significance
Select item 650558	NM_016335.6(PRODH):c.391C>T (p.Arg131Trp)	PRODH (R23W +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 547891	NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del)	PRODH	Deletion (inframe_deletion +1 more)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 459918	NM_016335.6(PRODH):c.554G>A (p.Trp185Ter)	PRODH (W77* +1 more)	Single nucleotide variant (nonsense)	Proline dehydrogenase deficiency +2 more	GBenign
Select item 459913	NM_016335.6(PRODH):c.1623C>G (p.Ala541=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 459908	NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu)	PRODH (P388L +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GUncertain significance
Select item 4013	NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)	PRODH (T466M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4011	NM_016335.6(PRODH):c.1292G>A (p.Arg431His)	PRODH (R431H +1 more)	Single nucleotide variant (missense variant)	Proline dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 4010	NM_016335.6(PRODH):c.1562= (p.Arg521=)	PRODH	Single nucleotide variant (no sequence alteration)	Proline dehydrogenase deficiency	GBenign
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 4008	NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	PRODH (L441P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 4007	NM_016335.6(PRODH):c.865T>A (p.Leu289Met)	PRODH (L289M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 4005	NC_000022.11:g.(?_18906222)_(18936553_?)del	HSERVPRODH, DGCR6 +1 more	Deletion	Proline dehydrogenase deficiency +1 more	GPathogenic; risk factor

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Items: 52