"Ambry Genetics"[submitter] AND "PPCS"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615576	NM_024664.4(PPCS):c.34C>G (p.Gln12Glu)	CCDC30, PPCS (Q12E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2262517	NM_024664.4(PPCS):c.41C>T (p.Pro14Leu)	CCDC30, PPCS (P14L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2615388	NM_024664.4(PPCS):c.202A>C (p.Thr68Pro)	CCDC30, PPCS (T68P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1899671	NM_024664.4(PPCS):c.208G>A (p.Ala70Thr)	CCDC30, PPCS (A70T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1513347	NM_024664.4(PPCS):c.221T>C (p.Leu74Pro)	CCDC30, LOC129930344 +1 more (L74P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2268546	NM_024664.4(PPCS):c.253C>G (p.Arg85Gly)	CCDC30, LOC129930344 +1 more (R85G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1361004	NM_024664.4(PPCS):c.319C>T (p.Pro107Ser)	CCDC30, LOC129930344 +1 more (P107S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1361600	NM_024664.4(PPCS):c.328C>T (p.Pro110Ser)	CCDC30, LOC129930344 +1 more (P110S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1512518	NM_024664.4(PPCS):c.397A>T (p.Arg133Trp)	PPCS, CCDC30 (R133W)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2264235	NM_024664.4(PPCS):c.448A>T (p.Thr150Ser)	PPCS, CCDC30 (T150S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1481787	NM_024664.4(PPCS):c.709G>A (p.Ala237Thr)	CCDC30, PPCS (A31T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2298853	NM_024664.4(PPCS):c.725G>A (p.Arg242Gln)	CCDC30, PPCS (R69Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1450466	NM_024664.4(PPCS):c.788G>A (p.Arg263Gln)	PPCS, CCDC30 (R263Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028836	NM_024664.4(PPCS):c.792G>C (p.Gln264His)	CCDC30, PPCS (Q58H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity