"Ambry Genetics"[submitter] AND "PPP3CC"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217810	NM_005605.5(PPP3CC):c.13C>G (p.Arg5Gly)	LOC129999980, PPP3CC (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217813	NM_005605.5(PPP3CC):c.22C>T (p.Leu8Phe)	LOC129999980, PPP3CC (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296726	NM_005605.5(PPP3CC):c.31A>C (p.Thr11Pro)	LOC129999980, PPP3CC (T11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309530	NM_005605.5(PPP3CC):c.35A>C (p.Asp12Ala)	LOC129999980, PPP3CC (D12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217816	NM_005605.5(PPP3CC):c.90A>C (p.Glu30Asp)	PPP3CC (E30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338486	NM_005605.5(PPP3CC):c.92T>C (p.Val31Ala)	PPP3CC (V31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535868	NM_005605.5(PPP3CC):c.134A>G (p.His45Arg)	PPP3CC (H45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403761	NM_005605.5(PPP3CC):c.154C>G (p.Leu52Val)	PPP3CC (L52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309528	NM_005605.5(PPP3CC):c.166G>A (p.Val56Ile)	PPP3CC (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217812	NM_005605.5(PPP3CC):c.185A>G (p.Asn62Ser)	PPP3CC (N62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303608	NM_005605.5(PPP3CC):c.191G>T (p.Gly64Val)	PPP3CC (G64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217814	NM_005605.5(PPP3CC):c.276T>G (p.Phe92Leu)	PPP3CC (F92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478085	NM_005605.5(PPP3CC):c.383A>G (p.Tyr128Cys)	PPP3CC (Y128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309529	NM_005605.5(PPP3CC):c.437A>G (p.Asn146Ser)	PPP3CC (N146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217815	NM_005605.5(PPP3CC):c.655G>A (p.Ala219Thr)	PPP3CC (A219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211523	NM_005605.5(PPP3CC):c.719C>T (p.Thr240Ile)	PPP3CC (T240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550174	NM_005605.5(PPP3CC):c.749G>T (p.Arg250Leu)	PPP3CC (R250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541653	NM_005605.5(PPP3CC):c.821T>A (p.Ile274Asn)	PPP3CC (I274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480782	NM_005605.5(PPP3CC):c.946G>T (p.Ala316Ser)	PPP3CC (A316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320222	NM_005605.5(PPP3CC):c.969T>G (p.Asn323Lys)	PPP3CC (N323K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517345	NM_005605.5(PPP3CC):c.1114G>A (p.Glu372Lys)	PPP3CC (E372K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217808	NM_005605.5(PPP3CC):c.1186G>A (p.Ala396Thr)	PPP3CC (A396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461273	NM_005605.5(PPP3CC):c.1240G>A (p.Val414Met)	PPP3CC (V414M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217809	NM_005605.5(PPP3CC):c.1334C>T (p.Ala445Val)	PPP3CC (A454V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274856	NM_005605.5(PPP3CC):c.1385G>A (p.Arg462Gln)	PPP3CC (R462Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404819	NM_005605.5(PPP3CC):c.1400C>T (p.Ala467Val)	PPP3CC (A476V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217811	NM_005605.5(PPP3CC):c.1463G>T (p.Gly488Val)	PPP3CC (G478V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569236	NM_005605.5(PPP3CC):c.1468A>T (p.Met490Leu)	PPP3CC (M499L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383534	NM_005605.5(PPP3CC):c.1495C>A (p.His499Asn)	PPP3CC (H499N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 29