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

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2496273	NM_032634.4(PIGO):c.3133G>T (p.Ala1045Ser)	PIGO (A1045S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542285	NM_032634.4(PIGO):c.3100C>T (p.Leu1034Phe)	PIGO (L1034F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450853	NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala)	PIGO (G1021A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2530643	NM_032634.4(PIGO):c.3015C>A (p.Phe1005Leu)	PIGO (F1005L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848501	NM_032634.4(PIGO):c.3014T>C (p.Phe1005Ser)	PIGO (F1005S +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 850506	NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp)	PIGO (R999W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 540448	NM_032634.4(PIGO):c.2872C>A (p.Leu958Met)	PIGO (L958M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1011516	NM_032634.4(PIGO):c.2747A>G (p.His916Arg)	PIGO (H499R +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 450953	NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)	PIGO (V879I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1016317	NM_032634.4(PIGO):c.2612A>C (p.His871Pro)	PIGO (H454P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1430574	NM_032634.4(PIGO):c.2584C>G (p.Leu862Val)	PIGO (L862V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 597375	NM_032634.4(PIGO):c.2522C>T (p.Thr841Ile)	PIGO (T841I)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GUncertain significance
Select item 1046032	NM_032634.4(PIGO):c.2435T>C (p.Leu812Ser)	PIGO (L812S)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 522896	NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp)	PIGO (R811W)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia-intellectual disability syndrome +2 more	GUncertain significance
Select item 3212815	NM_032634.4(PIGO):c.2384A>T (p.Tyr795Phe)	PIGO (Y795F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227312	NM_032634.4(PIGO):c.2335G>C (p.Val779Leu)	PIGO (V779L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 387821	NM_032634.4(PIGO):c.2287G>T (p.Val763Leu)	PIGO (V763L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 579470	NM_032634.4(PIGO):c.2267C>T (p.Ala756Val)	PIGO (A756V)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 473223	NM_032634.4(PIGO):c.2233C>T (p.Arg745Trp)	PIGO (R745W)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 2270404	NM_032634.4(PIGO):c.2191C>A (p.Arg731Ser)	PIGO (R731S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1375479	NM_032634.4(PIGO):c.2191C>T (p.Arg731Cys)	PIGO (R731C)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 585062	NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys)	PIGO (E698K)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2083998	NM_032634.4(PIGO):c.2068C>T (p.Arg690Cys)	PIGO (R690C)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 1058948	NM_032634.4(PIGO):c.2066G>A (p.Arg689His)	PIGO (R689H)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 366757	NM_032634.4(PIGO):c.2065C>T (p.Arg689Cys)	PIGO (R689C)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 473220	NM_032634.4(PIGO):c.1960C>G (p.Leu654Val)	PIGO (L654V)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 960151	NM_032634.4(PIGO):c.1952C>T (p.Ser651Phe)	PIGO (S651F)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 566617	NM_032634.4(PIGO):c.1864C>A (p.Leu622Met)	PIGO (L622M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 967522	NM_032634.4(PIGO):c.1843C>T (p.Arg615Trp)	PIGO (R615W)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 286126	NM_032634.4(PIGO):c.1810dup (p.Arg604fs)	PIGO (R604fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 846849	NM_032634.4(PIGO):c.1810C>T (p.Arg604Cys)	PIGO (R604C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1002547	NM_032634.4(PIGO):c.1730T>C (p.Leu577Ser)	PIGO (L577S)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 575930	NM_032634.4(PIGO):c.1721C>G (p.Pro574Arg)	PIGO (P574R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 473216	NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser)	PIGO (P574S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 570037	NM_032634.4(PIGO):c.1718C>T (p.Thr573Ile)	PIGO (T573I)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 3212814	NM_032634.4(PIGO):c.1691G>C (p.Ser564Thr)	PIGO (S564T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 658063	NM_032634.4(PIGO):c.1618G>C (p.Ala540Pro)	PIGO (A540P)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 1470536	NM_032634.4(PIGO):c.1607A>G (p.Lys536Arg)	PIGO (K536R)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 955170	NM_032634.4(PIGO):c.1549G>A (p.Ala517Thr)	PIGO (A517T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 914824	NM_032634.4(PIGO):c.1522C>G (p.Leu508Val)	PIGO (L508V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 663807	NM_032634.4(PIGO):c.1460T>C (p.Val487Ala)	PIGO (V487A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445600	NM_032634.4(PIGO):c.1391T>G (p.Ile464Ser)	PIGO (I464S)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 2477781	NM_032634.4(PIGO):c.1313T>C (p.Met438Thr)	PIGO (M438T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491180	NM_032634.4(PIGO):c.1309G>A (p.Ala437Thr)	PIGO (A437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051050	NM_032634.4(PIGO):c.1288C>G (p.Gln430Glu)	PIGO (Q430E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 473214	NM_032634.4(PIGO):c.1283T>A (p.Leu428Gln)	PIGO (L428Q)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 912864	NM_032634.4(PIGO):c.1187T>A (p.Leu396Gln)	PIGO (L396Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372633	NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe)	PIGO (L378F)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GUncertain significance
Select item 3306503	NM_032634.4(PIGO):c.1124C>G (p.Ser375Cys)	PIGO (S375C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 959255	NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu)	PIGO (S349L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 473237	NM_032634.4(PIGO):c.794G>A (p.Arg265His)	PIGO (R265H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 578776	NM_032634.4(PIGO):c.749A>G (p.Lys250Arg)	PIGO (K250R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 571252	NM_032634.4(PIGO):c.676G>A (p.Val226Met)	PIGO (V226M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 3212816	NM_032634.4(PIGO):c.660C>G (p.Asp220Glu)	PIGO (D220E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622987	NM_032634.4(PIGO):c.638A>C (p.Glu213Ala)	PIGO (E213A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530739	NM_032634.4(PIGO):c.512G>C (p.Gly171Ala)	PIGO (G171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307298	NM_032634.4(PIGO):c.475G>A (p.Val159Met)	PIGO (V159M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 574479	NM_032634.4(PIGO):c.452G>A (p.Ser151Asn)	PIGO (S151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035208	NM_032634.4(PIGO):c.433A>G (p.Thr145Ala)	PIGO (T145A)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 473232	NM_032634.4(PIGO):c.394A>G (p.Met132Val)	PIGO (M132V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GUncertain significance
Select item 665155	NM_032634.4(PIGO):c.372G>T (p.Gln124His)	PIGO (Q124H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042399	NM_032634.4(PIGO):c.283C>T (p.Pro95Ser)	PIGO (P95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 954771	NM_032634.4(PIGO):c.257A>G (p.Gln86Arg)	PIGO (Q86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 473224	NM_032634.4(PIGO):c.253C>A (p.Pro85Thr)	PIGO (P85T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GUncertain significance
Select item 2608130	NM_032634.4(PIGO):c.189G>A (p.Met63Ile)	PIGO (M63I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306505	NM_032634.4(PIGO):c.85C>G (p.Leu29Val)	PIGO (L29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278324	NM_032634.4(PIGO):c.80G>A (p.Gly27Asp)	PIGO (G27D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 580499	NM_032634.4(PIGO):c.55G>T (p.Ala19Ser)	PIGO (A19S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance

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Items: 69