"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PGAP3"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1472169	NM_033419.5(PGAP3):c.559_560inv	PGAP3	Inversion (3 prime UTR variant)	not provided	GUncertain significance
Select item 1278119	NM_033419.5(PGAP3):c.*560A>G	PGAP3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 755096	NM_033419.5(PGAP3):c.921G>A (p.Leu307=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056121	NM_033419.5(PGAP3):c.919C>G (p.Leu307Val)	PGAP3 (L193V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 125439	NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly)	PGAP3 (D305G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1268616	NM_033419.5(PGAP3):c.900-10T>C	PGAP3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1580577	NM_033419.5(PGAP3):c.900-18T>C	PGAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2847795	NM_033419.5(PGAP3):c.900-19C>G	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1445592	NM_033419.5(PGAP3):c.839T>C (p.Val280Ala)	PGAP3 (V280A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3003934	NM_033419.5(PGAP3):c.828G>A (p.Pro276=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 426134	NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)	PGAP3 (P276L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3003242	NM_033419.5(PGAP3):c.822C>T (p.Phe274=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962023	NM_033419.5(PGAP3):c.816T>C (p.Leu272=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 500418	NM_033419.5(PGAP3):c.811C>A (p.Leu271Met)	PGAP3 (L271M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 779020	NM_033419.5(PGAP3):c.807C>G (p.Leu269=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3000176	NM_033419.5(PGAP3):c.796C>T (p.Leu266=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899519	NM_033419.5(PGAP3):c.792G>C (p.Gln264His)	PGAP3 (Q243H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963436	NM_033419.5(PGAP3):c.789G>A (p.Leu263=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933184	NM_033419.5(PGAP3):c.779T>C (p.Val260Ala)	PGAP3 (V209A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919898	NM_033419.5(PGAP3):c.769G>A (p.Val257Met)	PGAP3 (V236M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889439	NM_033419.5(PGAP3):c.768C>T (p.Cys256=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920017	NM_033419.5(PGAP3):c.760C>T (p.Arg254Cys)	PGAP3 (R254C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171348	NM_033419.5(PGAP3):c.757G>T (p.Val253Leu)	PGAP3 (V253L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068698	NM_033419.5(PGAP3):c.757G>A (p.Val253Met)	PGAP3 (V232M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2419368	NM_033419.5(PGAP3):c.756C>T (p.His252=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 768875	NM_033419.5(PGAP3):c.743G>A (p.Arg248Gln)	PGAP3 (R197Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1908759	NM_033419.5(PGAP3):c.742C>A (p.Arg248=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1380168	NM_033419.5(PGAP3):c.742C>T (p.Arg248Trp)	PGAP3 (R248W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973036	NM_033419.5(PGAP3):c.711G>A (p.Val237=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013221	NM_033419.5(PGAP3):c.705C>T (p.Asn235=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1925614	NM_033419.5(PGAP3):c.704A>G (p.Asn235Ser)	PGAP3 (N235S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987290	NM_033419.5(PGAP3):c.695-13C>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983666	NM_033419.5(PGAP3):c.694+12G>C	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 373293	NM_033419.5(PGAP3):c.694+1G>A	PGAP3	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 1984803	NM_033419.5(PGAP3):c.685G>A (p.Val229Met)	PGAP3 (V178M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2157205	NM_033419.5(PGAP3):c.684C>T (p.Asn228=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715314	NM_033419.5(PGAP3):c.683A>G (p.Asn228Ser)	PGAP3 (N177S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2418532	NM_033419.5(PGAP3):c.658G>A (p.Asp220Asn)	PGAP3 (D169N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 393228	NM_033419.5(PGAP3):c.653G>A (p.Arg218His)	PGAP3 (R218H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2080305	NM_033419.5(PGAP3):c.642G>A (p.Leu214=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 620555	NM_033419.5(PGAP3):c.639C>G (p.Tyr213Ter)	PGAP3 (Y213* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1925686	NM_033419.5(PGAP3):c.625G>A (p.Val209Met)	PGAP3 (V188M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775161	NM_033419.5(PGAP3):c.624C>T (p.Thr208=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742049	NM_033419.5(PGAP3):c.607C>T (p.Leu203=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979008	NM_033419.5(PGAP3):c.606C>T (p.Leu202=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066075	NM_033419.5(PGAP3):c.606C>G (p.Leu202=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1411512	NM_033419.5(PGAP3):c.598C>T (p.Arg200Trp)	PGAP3 (R149W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2752554	NM_033419.5(PGAP3):c.571C>T (p.Gln191Ter)	PGAP3 (Q170* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2118104	NM_033419.5(PGAP3):c.563T>C (p.Val188Ala)	PGAP3 (V137A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899206	NM_033419.5(PGAP3):c.561C>T (p.Thr187=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 224645	NM_033419.5(PGAP3):c.558-10G>A	PGAP3	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 1992193	NM_033419.5(PGAP3):c.558-11C>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2861258	NM_033419.5(PGAP3):c.557+17G>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2159955	NM_033419.5(PGAP3):c.557+9G>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333697	NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr)	PGAP3 (R135T +4 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 709315	NM_033419.5(PGAP3):c.553G>A (p.Val185Ile)	PGAP3 (V134I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 732183	NM_033419.5(PGAP3):c.552C>T (p.Cys184=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186366	NM_033419.5(PGAP3):c.549C>T (p.Cys183=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2054807	NM_033419.5(PGAP3):c.526A>C (p.Ile176Leu)	PGAP3 (I125L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2157203	NM_033419.5(PGAP3):c.521C>T (p.Thr174Ile)	PGAP3 (T123I +2 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2967064	NM_033419.5(PGAP3):c.500T>C (p.Met167Thr)	PGAP3 (M146T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897003	NM_033419.5(PGAP3):c.496-19C>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093186	NM_033419.5(PGAP3):c.496-20C>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728120	NM_033419.5(PGAP3):c.495+10C>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126345	NM_033419.5(PGAP3):c.482C>T (p.Thr161Ile)	PGAP3 (T110I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 373161	NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser)	PGAP3 (R159S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2986656	NM_033419.5(PGAP3):c.471C>T (p.His157=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 679984	NM_033419.5(PGAP3):c.465T>C (p.Val155=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 4 +1 more	GBenign
Select item 1687230	NM_033419.5(PGAP3):c.452dup (p.Trp152fs)	PGAP3 (W101fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1962601	NM_033419.5(PGAP3):c.435G>A (p.Val145=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518580	NM_033419.5(PGAP3):c.434T>C (p.Val145Ala)	PGAP3 (V145A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2998868	NM_033419.5(PGAP3):c.433-8dup	PGAP3	Duplication (intron variant)	not provided	GLikely benign
Select item 235690	NM_033419.5(PGAP3):c.422C>G (p.Ala141Gly)	PGAP3 (A141G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2064403	NM_033419.5(PGAP3):c.404T>C (p.Met135Thr)	PGAP3 (M135T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2416842	NM_033419.5(PGAP3):c.395C>G (p.Ser132Cys)	PGAP3 (S132C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 750346	NM_033419.5(PGAP3):c.390A>G (p.Pro130=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2046278	NM_033419.5(PGAP3):c.371G>A (p.Arg124His)	PGAP3 (R124H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977142	NM_033419.5(PGAP3):c.346C>T (p.Leu116=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1701320	NM_033419.5(PGAP3):c.333G>A (p.Ser111=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 714858	NM_033419.5(PGAP3):c.324C>T (p.Ala108=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1899434	NM_033419.5(PGAP3):c.321G>A (p.Ser107=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 224643	NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)	PGAP3 (S107L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 708595	NM_033419.5(PGAP3):c.315G>A (p.Pro105=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136604	NM_033419.5(PGAP3):c.314C>T (p.Pro105Leu)	PGAP3 (P105L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004477	NM_033419.5(PGAP3):c.294G>C (p.Arg98=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950073	NM_033419.5(PGAP3):c.288C>T (p.Phe96=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751884	NM_033419.5(PGAP3):c.285C>T (p.Pro95=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974344	NM_033419.5(PGAP3):c.284C>G (p.Pro95Arg)	PGAP3 (P95R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916421	NM_033419.5(PGAP3):c.280-17A>C	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977022	NM_033419.5(PGAP3):c.279+20T>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787756	NM_033419.5(PGAP3):c.279+17G>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908524	NM_033419.5(PGAP3):c.279+17G>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000028	NM_033419.5(PGAP3):c.279+7T>G	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187815	NM_033419.5(PGAP3):c.272A>G (p.His91Arg)	PGAP3 (H91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900884	NM_033419.5(PGAP3):c.251G>A (p.Gly84Asp)	PGAP3 (G84D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1909447	NM_033419.5(PGAP3):c.229G>A (p.Val77Ile)	PGAP3 (V77I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060967	NM_033419.5(PGAP3):c.228C>T (p.Thr76=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352575	NM_033419.5(PGAP3):c.200A>G (p.Asp67Gly)	PGAP3 (D67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995865	NM_033419.5(PGAP3):c.182-7G>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980486	NM_033419.5(PGAP3):c.182-8T>C	PGAP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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