C0268529[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	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 127267	NM_016335.6(PRODH):c.1741C>T (p.Leu581=)	PRODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1169511	NM_016335.6(PRODH):c.1515T>C (p.Phe505=)	PRODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1169512	NM_016335.6(PRODH):c.1105-14C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1169513	NM_016335.6(PRODH):c.991T>C (p.Leu331=)	PRODH	Single nucleotide variant (synonymous variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1232417	NM_016335.6(PRODH):c.849+45del	PRODH	Deletion (intron variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1269069	NM_016335.6(PRODH):c.849+23C>T	PRODH	Single nucleotide variant (intron variant)	Proline dehydrogenase deficiency +1 more	GBenign
Select item 1168806	NM_016335.6(PRODH):c.553T>C (p.Trp185Arg)	PRODH (W185R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1168807	NM_016335.6(PRODH):c.56C>A (p.Pro19Gln)	PRODH (P19Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign