ClinVar for MedGen (Select 766551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3765721	NM_032634.4(PIGO):c.2557G>T (p.Glu853Ter)	PIGO (E853*)	Single nucleotide variant (nonsense +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely pathogenic
Select item 3730076	NM_032634.4(PIGO):c.2279G>A (p.Trp760Ter)	PIGO (W760*)	Single nucleotide variant (nonsense +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 3728114	NM_032634.4(PIGO):c.780-16A>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3727341	NM_032634.4(PIGO):c.2940T>C (p.Ala980=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3725094	NM_032634.4(PIGO):c.270G>T (p.Val90=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3723074	NM_032634.4(PIGO):c.1011T>C (p.Phe337=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3721515	NM_032634.4(PIGO):c.1449C>T (p.Leu483=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3720725	NM_032634.4(PIGO):c.2674G>A (p.Val892Ile)	PIGO (V475I +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3720722	NM_032634.4(PIGO):c.1512T>G (p.Ile504Met)	PIGO (I504M)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3720721	NM_032634.4(PIGO):c.2503G>A (p.Ala835Thr)	PIGO (A835T)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3715687	NM_032634.4(PIGO):c.66C>T (p.Ala22=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3715451	NM_032634.4(PIGO):c.2634C>G (p.Pro878=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3715165	NM_032634.4(PIGO):c.153A>G (p.Pro51=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3710420	NM_032634.4(PIGO):c.1152T>C (p.Ala384=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GLikely benign
Select item 3709100	NM_032634.4(PIGO):c.591A>G (p.Pro197=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3706499	NM_032634.4(PIGO):c.1841dup (p.Arg615fs)	PIGO (R615fs)	Duplication (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 3702481	NM_032634.4(PIGO):c.2166G>A (p.Ala722=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3700395	NM_032634.4(PIGO):c.270G>A (p.Val90=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3699874	NM_032634.4(PIGO):c.1339T>C (p.Ser447Pro)	PIGO (S447P)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3699356	NM_032634.4(PIGO):c.1569C>T (p.Leu523=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3699152	NM_032634.4(PIGO):c.2002T>G (p.Leu668Val)	PIGO (L668V)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3692266	NM_032634.4(PIGO):c.2361C>G (p.Pro787=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3686295	NM_032634.4(PIGO):c.1348del (p.Arg450fs)	PIGO (R450fs)	Deletion (frameshift variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 3685556	NM_032634.4(PIGO):c.1167A>G (p.Gln389=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3683032	NM_032634.4(PIGO):c.2433G>T (p.Arg811=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3681165	NM_032634.4(PIGO):c.1956C>T (p.Pro652=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3675694	NM_032634.4(PIGO):c.2490T>C (p.Ser830=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3673712	NM_032634.4(PIGO):c.512-11T>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3673711	NM_032634.4(PIGO):c.2064T>G (p.Leu688=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3664481	NM_032634.4(PIGO):c.2838C>T (p.Ser946=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3662965	NM_032634.4(PIGO):c.429G>A (p.Leu143=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3662179	NM_032634.4(PIGO):c.939+4_939+5dup	PIGO	Duplication (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3659897	NM_032634.4(PIGO):c.779+10G>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3659883	NM_032634.4(PIGO):c.132C>G (p.Pro44=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3658080	NM_032634.4(PIGO):c.1818C>G (p.Gly606=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3655834	NM_032634.4(PIGO):c.1008A>G (p.Pro336=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3654113	NM_032634.4(PIGO):c.2621C>A (p.Ala874Asp)	PIGO (A457D +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 3649918	NM_032634.4(PIGO):c.2647+13G>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3648170	NM_032634.4(PIGO):c.1120-20_1120-18del	PIGO	Deletion (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3645010	NM_032634.4(PIGO):c.1335T>C (p.Arg445=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3644163	NM_032634.4(PIGO):c.2568C>T (p.Ser856=)	PIGO	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3642875	NM_032634.4(PIGO):c.505dup (p.Ser169fs)	PIGO (S169fs)	Duplication (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 3639521	NM_032634.4(PIGO):c.3192G>C (p.Leu1064=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3633251	NM_032634.4(PIGO):c.940-13C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3633250	NM_032634.4(PIGO):c.972G>C (p.Val324=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3627737	NM_032634.4(PIGO):c.2748T>C (p.His916=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3619815	NM_032634.4(PIGO):c.327G>A (p.Arg109=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3613816	NM_032634.4(PIGO):c.69C>A (p.Leu23=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 3603823	NM_032634.4(PIGO):c.512-20T>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
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)	Hyperphosphatasia with intellectual disability syndrome 2 +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

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