ClinVar for Gene (Select 93210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362648	NM_033419.5(PGAP3):c.181+1G>T	PGAP3	Single nucleotide variant (splice donor variant)	Hyperphosphatasia with intellectual disability syndrome 4	GLikely pathogenic
Select item 3305938	NM_033419.5(PGAP3):c.293G>C (p.Arg98Pro)	PGAP3 (R98P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305937	NM_033419.5(PGAP3):c.814C>G (p.Leu272Val)	PGAP3 (L221V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243214	NC_000017.10:g.(?_37842155)_(37844267_?)del	PGAP3	Deletion	not provided	GPathogenic
Select item 3243213	NC_000017.10:g.(?_37840830)_(37841022_?)del	PGAP3	Deletion	not provided	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3211654	NM_033419.5(PGAP3):c.692T>C (p.Ile231Thr)	PGAP3 (I210T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211652	NM_033419.5(PGAP3):c.17C>T (p.Ala6Val)	PGAP3 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068561	NM_033419.5(PGAP3):c.43dup (p.Ala15fs)	PGAP3 (A15fs)	Duplication (frameshift variant)	Hyperphosphatasia-intellectual disability syndrome	GLikely pathogenic
Select item 3028899	NM_033419.5(PGAP3):c.265C>T (p.Gln89Ter)	PGAP3 (Q89*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 4	GPathogenic
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 3004477	NM_033419.5(PGAP3):c.294G>C (p.Arg98=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3003242	NM_033419.5(PGAP3):c.822C>T (p.Phe274=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3000028	NM_033419.5(PGAP3):c.279+7T>G	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998868	NM_033419.5(PGAP3):c.433-8dup	PGAP3	Duplication (intron variant)	not provided	GLikely benign
Select item 2995865	NM_033419.5(PGAP3):c.182-7G>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987290	NM_033419.5(PGAP3):c.695-13C>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2983666	NM_033419.5(PGAP3):c.694+12G>C	PGAP3	Single nucleotide variant (intron variant)	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 2977142	NM_033419.5(PGAP3):c.346C>T (p.Leu116=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	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 2973036	NM_033419.5(PGAP3):c.711G>A (p.Val237=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2962023	NM_033419.5(PGAP3):c.816T>C (p.Leu272=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958032	NM_033419.5(PGAP3):c.181+19G>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954871	NM_033419.5(PGAP3):c.181+18G>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954852	NM_033419.5(PGAP3):c.39G>T (p.Gly13=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2889439	NM_033419.5(PGAP3):c.768C>T (p.Cys256=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869339	NM_033419.5(PGAP3):c.54G>A (p.Ala18=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861258	NM_033419.5(PGAP3):c.557+17G>A	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847795	NM_033419.5(PGAP3):c.900-19C>G	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 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 2617700	NM_033419.5(PGAP3):c.819C>A (p.Asp273Glu)	PGAP3 (D222E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616231	NM_033419.5(PGAP3):c.356T>C (p.Leu119Pro)	PGAP3 (L119P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614831	NM_033419.5(PGAP3):c.24G>C (p.Leu8Phe)	PGAP3 (L8F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554584	NM_033419.5(PGAP3):c.332C>T (p.Ser111Leu)	PGAP3 (S111L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542100	NM_033419.5(PGAP3):c.460A>G (p.Thr154Ala)	PGAP3 (T103A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487664	NM_033419.5(PGAP3):c.376C>T (p.Arg126Cys)	PGAP3 (R126C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +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 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 2417823	NM_033419.5(PGAP3):c.132C>T (p.Gly44=)	PGAP3	Single nucleotide variant (synonymous variant)	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 2413667	NM_033419.5(PGAP3):c.6C>T (p.Ala2=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382079	NM_033419.5(PGAP3):c.706G>A (p.Val236Met)	PGAP3 (V215M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349349	NM_033419.5(PGAP3):c.443A>C (p.Asn148Thr)	PGAP3 (N148T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335657	NM_033419.5(PGAP3):c.335T>C (p.Phe112Ser)	PGAP3 (F112S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329887	NM_033419.5(PGAP3):c.400C>G (p.Pro134Ala)	PGAP3 (P134A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329338	NM_033419.5(PGAP3):c.358G>A (p.Val120Met)	PGAP3 (V120M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305944	NM_033419.5(PGAP3):c.938C>T (p.Ser313Leu)	PGAP3 (S313L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305943	NM_033419.5(PGAP3):c.149G>A (p.Arg50His)	PGAP3 (R50H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299003	NM_033419.5(PGAP3):c.587T>C (p.Val196Ala)	PGAP3 (V175A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2245687	NM_033419.5(PGAP3):c.473C>G (p.Thr158Ser)	PGAP3 (T158S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227732	NM_033419.5(PGAP3):c.205A>T (p.Lys69Ter)	PGAP3 (K69*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2224694	NM_033419.5(PGAP3):c.148C>T (p.Arg50Cys)	PGAP3 (R50C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190189	NM_033419.5(PGAP3):c.30G>C (p.Leu10=)	PGAP3	Single nucleotide variant (synonymous 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 2187175	NM_033419.5(PGAP3):c.27C>T (p.Val9=)	PGAP3	Single nucleotide variant (synonymous variant)	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 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 2159955	NM_033419.5(PGAP3):c.557+9G>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 2093186	NM_033419.5(PGAP3):c.496-20C>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2077060	NM_033419.5(PGAP3):c.133G>A (p.Ala45Thr)	PGAP3 (A45T)	Single nucleotide variant (missense variant)	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 2066075	NM_033419.5(PGAP3):c.606C>G (p.Leu202=)	PGAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 2060967	NM_033419.5(PGAP3):c.228C>T (p.Thr76=)	PGAP3	Single nucleotide variant (synonymous variant)	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 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 2046878	NM_033419.5(PGAP3):c.8G>A (p.Gly3Asp)	PGAP3 (G3D)	Single nucleotide variant (missense variant)	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 2030681	NM_033419.5(PGAP3):c.114G>A (p.Glu38=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992193	NM_033419.5(PGAP3):c.558-11C>T	PGAP3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1982660	NM_033419.5(PGAP3):c.120C>A (p.Asn40Lys)	PGAP3 (N40K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980486	NM_033419.5(PGAP3):c.182-8T>C	PGAP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1970267	NM_033419.5(PGAP3):c.69C>T (p.Gly23=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1962601	NM_033419.5(PGAP3):c.435G>A (p.Val145=)	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 1942281	NM_033419.5(PGAP3):c.182-17A>G	PGAP3	Single nucleotide variant (intron variant)	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 1927729	NM_033419.5(PGAP3):c.105G>A (p.Gln35=)	PGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1923203	NM_033419.5(PGAP3):c.182-18C>T	PGAP3	Single nucleotide variant (intron variant)	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 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

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