ClinVar for MedGen (Select 766551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064395	NM_032634.4(PIGO):c.1043T>C (p.Phe348Ser)	PIGO (F348S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3022351	NM_032634.4(PIGO):c.366A>G (p.Arg122=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3017209	NM_032634.4(PIGO):c.2028G>A (p.Ala676=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3017002	NM_032634.4(PIGO):c.927C>T (p.Ser309=)	PIGO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3013694	NM_032634.4(PIGO):c.1686T>C (p.Ser562=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2986389	NM_032634.4(PIGO):c.1120-17G>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2965109	NM_032634.4(PIGO):c.1120-16A>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2957455	NM_032634.4(PIGO):c.322C>T (p.Gln108Ter)	PIGO (Q108*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2912334	NM_032634.4(PIGO):c.2025G>T (p.Ala675=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2909335	NM_032634.4(PIGO):c.2648-16A>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2904239	NM_032634.4(PIGO):c.1982T>C (p.Val661Ala)	PIGO (V661A)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2898862	NM_032634.4(PIGO):c.1701A>G (p.Val567=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2897295	NM_032634.4(PIGO):c.3141-9T>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2890959	NM_032634.4(PIGO):c.1434A>T (p.Pro478=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2890026	NM_032634.4(PIGO):c.940-18A>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2887286	NM_032634.4(PIGO):c.2370A>G (p.Gln790=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2886922	NM_032634.4(PIGO):c.2967A>G (p.Glu989=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2885999	NM_032634.4(PIGO):c.1887T>C (p.Leu629=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2883344	NM_032634.4(PIGO):c.2784T>C (p.His928=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2881441	NM_032634.4(PIGO):c.2364T>C (p.Thr788=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2878185	NM_032634.4(PIGO):c.420T>G (p.Thr140=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2873004	NM_032634.4(PIGO):c.2649T>C (p.Gly883=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2870992	NM_032634.4(PIGO):c.445dup (p.Ala149fs)	PIGO (A149fs)	Duplication (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2870554	NM_032634.4(PIGO):c.1861G>T (p.Ala621Ser)	PIGO (A621S)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2852515	NM_032634.4(PIGO):c.297C>T (p.Pro99=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2839262	NM_032634.4(PIGO):c.327_336del (p.Ile110fs)	PIGO (I110fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2839158	NM_032634.4(PIGO):c.1361del (p.Gly454fs)	PIGO (G454fs)	Deletion (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2829192	NM_032634.4(PIGO):c.696G>T (p.Leu232=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2826832	NM_032634.4(PIGO):c.1638T>C (p.Pro546=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2826770	NM_032634.4(PIGO):c.3141-19T>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2824391	NM_032634.4(PIGO):c.951G>T (p.Val317=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2816004	NM_032634.4(PIGO):c.1674T>C (p.Ala558=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2815586	NM_032634.4(PIGO):c.985del (p.Leu329fs)	PIGO (L329fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2807364	NM_032634.4(PIGO):c.1261C>T (p.Leu421=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2802211	NM_032634.4(PIGO):c.3216G>T (p.Val1072=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2801481	NM_032634.4(PIGO):c.1615C>T (p.Leu539=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2798701	NM_032634.4(PIGO):c.939+15G>A	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2796703	NM_032634.4(PIGO):c.119G>A (p.Ser40Asn)	PIGO (S40N)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2791143	NM_032634.4(PIGO):c.779+12G>A	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2786782	NM_032634.4(PIGO):c.1189C>T (p.Gln397Ter)	PIGO (Q397*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2763210	NM_032634.4(PIGO):c.1184del (p.Gln395fs)	PIGO (Q395fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2756766	NM_032634.4(PIGO):c.779+17G>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2754191	NM_032634.4(PIGO):c.2117G>A (p.Trp706Ter)	PIGO (W706*)	Single nucleotide variant (nonsense +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2753231	NM_032634.4(PIGO):c.996C>T (p.Gly332=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2750723	NM_032634.4(PIGO):c.613G>A (p.Asp205Asn)	PIGO (D205N)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2747271	NM_032634.4(PIGO):c.390C>G (p.Thr130=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2743901	NM_032634.4(PIGO):c.3066T>A (p.Ile1022=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2734011	NM_032634.4(PIGO):c.2368C>T (p.Gln790Ter)	PIGO (Q790*)	Single nucleotide variant (nonsense +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2732848	NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)	PIGO (Q1023* +1 more)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2727153	NM_032634.4(PIGO):c.939+15G>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2723803	NM_032634.4(PIGO):c.414C>T (p.Leu138=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2723393	NM_032634.4(PIGO):c.2682T>C (p.Ala894=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2717350	NM_032634.4(PIGO):c.2442_2457del (p.Arg814fs)	PIGO (R814fs)	Deletion (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2716081	NM_032634.4(PIGO):c.1257G>A (p.Ala419=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2714372	NM_032634.4(PIGO):c.2854+19C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2714089	NM_032634.4(PIGO):c.2400C>A (p.Ile800=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2711160	NM_032634.4(PIGO):c.3070-12C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2710215	NM_032634.4(PIGO):c.2217del (p.Ser740fs)	PIGO (S740fs)	Deletion (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2705892	NM_032634.4(PIGO):c.1653A>G (p.Leu551=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2704740	NM_032634.4(PIGO):c.2193T>G (p.Arg731=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2702826	NM_032634.4(PIGO):c.534A>G (p.Gly178=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2663964	NM_032634.4(PIGO):c.1681T>A (p.Phe561Ile)	PIGO (F561I)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2434844	NM_032634.4(PIGO):c.1600G>A (p.Gly534Arg)	PIGO (G534R)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2418811	NM_032634.4(PIGO):c.1932G>A (p.Glu644=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2417688	NM_032634.4(PIGO):c.370C>G (p.Gln124Glu)	PIGO (Q124E)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2415643	NM_032634.4(PIGO):c.781G>A (p.Gly261Arg)	PIGO (G261R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2415324	NM_032634.4(PIGO):c.28del (p.Leu10fs)	PIGO (L10fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2414071	NM_032634.4(PIGO):c.1233C>T (p.Leu411=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2201417	NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)	PIGO (A590G +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2201158	NM_032634.4(PIGO):c.939+17T>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2197318	NM_032634.4(PIGO):c.204G>A (p.Ser68=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2196391	NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)	PIGO (R854C)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 2195990	NM_032634.4(PIGO):c.636G>C (p.Leu212=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2194924	NM_032634.4(PIGO):c.2426G>A (p.Arg809Gln)	PIGO (R809Q)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2194914	NM_032634.4(PIGO):c.1236G>A (p.Gln412=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2191310	NM_032634.4(PIGO):c.1119+10C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2189894	NM_032634.4(PIGO):c.2189C>G (p.Pro730Arg)	PIGO (P730R)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2181022	NM_032634.4(PIGO):c.2886C>G (p.Phe962Leu)	PIGO (F962L +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2172982	NM_032634.4(PIGO):c.2895G>A (p.Glu965=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2170056	NM_032634.4(PIGO):c.1657CTG[1] (p.Leu554del)	PIGO (L554del)	Microsatellite (inframe_deletion +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 2169539	NM_032634.4(PIGO):c.1086C>G (p.Ala362=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2167846	NM_032634.4(PIGO):c.2901A>G (p.Gln967=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2163928	NM_032634.4(PIGO):c.1213G>A (p.Ala405Thr)	PIGO (A405T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2158867	NM_032634.4(PIGO):c.3138del (p.Lys1047fs)	PIGO (K630fs +1 more)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2156939	NM_032634.4(PIGO):c.656-16G>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2156045	NM_032634.4(PIGO):c.1930G>A (p.Glu644Lys)	PIGO (E644K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2154819	NM_032634.4(PIGO):c.2448A>G (p.Lys816=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2154796	NM_032634.4(PIGO):c.1862C>G (p.Ala621Gly)	PIGO (A621G)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2152833	NM_032634.4(PIGO):c.1667G>A (p.Arg556His)	PIGO (R556H)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2152181	NM_032634.4(PIGO):c.655+1G>A	PIGO	Single nucleotide variant (splice donor variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely pathogenic
Select item 2150735	NM_032634.4(PIGO):c.2855-20C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2147490	NM_032634.4(PIGO):c.517C>T (p.Arg173Cys)	PIGO (R173C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2146203	NM_032634.4(PIGO):c.1114C>T (p.Gln372Ter)	PIGO (Q372*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2144563	NM_032634.4(PIGO):c.2027C>T (p.Ala676Val)	PIGO (A676V)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2135398	NM_032634.4(PIGO):c.628G>A (p.Gly210Ser)	PIGO (G210S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2134610	NM_032634.4(PIGO):c.779A>G (p.Gln260Arg)	PIGO (Q260R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2129933	NM_032634.4(PIGO):c.655+4A>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2128496	NM_032634.4(PIGO):c.3261_3262delinsAG (p.Gln1088Glu)	PIGO (Q1088E +1 more)	Indel (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2128254	NM_032634.4(PIGO):c.240T>C (p.Phe80=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2124980	NM_032634.4(PIGO):c.2616G>C (p.Leu872=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign

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