C0268529[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 4008	NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	PRODH (L441P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 2435258	NM_016335.6(PRODH):c.850-10A>G	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency	GConflicting classifications of pathogenicity
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 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 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 1699582	NM_016335.6(PRODH):c.22C>T (p.Pro8Ser)	PRODH (P8S)	Single nucleotide variant (missense variant +1 more)	Proline dehydrogenase deficiency +1 more	GUncertain significance