"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPCS"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1537987	NM_024664.4(PPCS):c.36G>A (p.Gln12=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1566758	NM_024664.4(PPCS):c.309C>A (p.Ser103=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1587237	NM_024664.4(PPCS):c.420T>G (p.Ala140=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	PPCS-related disorder +1 more	GLikely benign
Select item 1643066	NM_024664.4(PPCS):c.519G>A (p.Ala173=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1545608	NM_024664.4(PPCS):c.537G>A (p.Ala179=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1585247	NM_024664.4(PPCS):c.606A>T (p.Pro202=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2187338	NM_024664.4(PPCS):c.708C>T (p.Pro236=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1572621	NM_024664.4(PPCS):c.762G>C (p.Val254=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1028836	NM_024664.4(PPCS):c.792G>C (p.Gln264His)	CCDC30, PPCS (Q58H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, dilated, 2c +3 more	GConflicting classifications of pathogenicity
Select item 1599807	NM_024664.4(PPCS):c.840A>G (p.Leu280=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign