ClinVar for MedGen (Select 43987) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217590	NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	CPLANE1	Deletion (frameshift variant)	Orofaciodigital syndrome type 6 +5 more	GPathogenic/Likely pathogenic
Select item 217575	NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	CPLANE1 (L2606* +1 more)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 6 +4 more	GPathogenic
Select item 217570	NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)	CPLANE1 (T2755fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 17 +4 more	GPathogenic
Select item 39575	m.15923A>G	MT-TT	Single nucleotide variant	Mitochondrial disease +7 more	GConflicting classifications of pathogenicity
Select item 562	NM_000140.5(FECH):c.315-48T>C	FECH	Single nucleotide variant (intron variant)	Autosomal erythropoietic protoporphyria +2 more	GConflicting classifications of pathogenicity
Select item 550	NM_000140.5(FECH):c.68-23C>T	FECH, LOC130062555	Single nucleotide variant (intron variant)	Protoporphyria, erythropoietic, 1 +1 more	GConflicting classifications of pathogenicity

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