Related gene-specific medical variations for Gene (Select 5132) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2371074	NM_002597.5(PDC):c.724G>C (p.Glu242Gln)	PDC, PDC-AS1 (E190Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296430	NM_002597.5(PDC):c.640G>C (p.Ala214Pro)	PDC-AS1, PDC (A214P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267428	NM_002597.5(PDC):c.215T>C (p.Met72Thr)	PDC-AS1, PDC (M20T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253941	NM_002597.5(PDC):c.542T>C (p.Phe181Ser)	PDC-AS1, PDC (F129S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218018	NM_002597.5(PDC):c.539G>A (p.Arg180His)	PDC-AS1, PDC (R180H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712921	NM_002597.5(PDC):c.258T>C (p.Asp86=)	PDC, PDC-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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