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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309102	NM_021823.5(PPCDC):c.31G>C (p.Ala11Pro)	PPCDC (A11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309100	NM_021823.5(PPCDC):c.187C>A (p.Gln63Lys)	LOC126862182, PPCDC (Q63K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3217052	NM_021823.5(PPCDC):c.211A>C (p.Ser71Arg)	LOC126862182, PPCDC (S71R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2511283	NM_021823.5(PPCDC):c.214G>A (p.Asp72Asn)	LOC126862182, PPCDC (D72N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2486103	NM_021823.5(PPCDC):c.218C>A (p.Ala73Asp)	LOC126862182, PPCDC (A73D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2457918	NM_021823.5(PPCDC):c.226T>C (p.Trp76Arg)	LOC126862182, PPCDC (W76R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2607850	NM_021823.5(PPCDC):c.228G>C (p.Trp76Cys)	LOC126862182, PPCDC (W76C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2301511	NM_021823.5(PPCDC):c.367G>A (p.Val123Ile)	PPCDC (V123I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3217053	NM_021823.5(PPCDC):c.373C>T (p.Arg125Trp)	PPCDC (R125W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274416	NM_021823.5(PPCDC):c.385C>G (p.Arg129Gly)	PPCDC (R6G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515208	NM_021823.5(PPCDC):c.401T>C (p.Leu134Pro)	PPCDC (L102P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382462	NM_021823.5(PPCDC):c.410C>T (p.Pro137Leu)	PPCDC (P105L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358777	NM_021823.5(PPCDC):c.452A>G (p.Gln151Arg)	PPCDC (Q151R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309099	NM_021823.5(PPCDC):c.514G>A (p.Val172Met)	PPCDC (V129M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529916	NM_021823.5(PPCDC):c.514G>C (p.Val172Leu)	PPCDC (V140L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357060	NM_021823.5(PPCDC):c.562G>A (p.Val188Met)	PPCDC (V188M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance