ClinVar (all) for Orgtrack (Select 509516) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235056	NM_000532.5(PCCB):c.373-1G>T	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3233416	NM_017799.4(TMEM260):c.1472G>A (p.Trp491Ter)	TMEM260 (W491*)	Single nucleotide variant (nonsense)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 3233362	NM_017799.4(TMEM260):c.817-9T>A	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance

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