GPI[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 1679432	NM_001184722.1(GPI):c.7G>A (p.Ala3Thr)	GPI (A3T)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 3033365	NM_001289789.1(GPI):c.82C>T (p.Gln28Ter)	GPI (Q28*)	Single nucleotide variant (nonsense)	GPI-related disorder	GLikely pathogenic
Select item 3034537	NM_001289789.1(GPI):c.110+6G>T	GPI	Single nucleotide variant (5 prime UTR variant +1 more)	GPI-related disorder	GLikely benign
Select item 993840	NM_000175.5(GPI):c.-9A>G	GPI	Single nucleotide variant (5 prime UTR variant +1 more)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 13647	NM_000175.5(GPI):c.14C>T (p.Thr5Ile)	GPI (T5I +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GPathogenic
Select item 2920886	NM_000175.5(GPI):c.16C>T (p.Arg6Trp)	GPI (R6W +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2649704	NM_000175.5(GPI):c.45A>G (p.Gln15=)	GPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 13644	NM_000175.5(GPI):c.59A>C (p.His20Pro)	GPI (H20P +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency	GPathogenic
Select item 3050104	NM_000175.5(GPI):c.87C>T (p.Leu29=)	GPI	Single nucleotide variant (synonymous variant)	GPI-related disorder	GLikely benign
Select item 2432249	NM_000175.5(GPI):c.91G>C (p.Asp31His)	GPI (D31H +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2297134	NM_000175.5(GPI):c.116A>G (p.His39Arg)	GPI (H78R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 811678	NM_000175.5(GPI):c.122+20G>A	GPI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1985202	NM_000175.5(GPI):c.153C>T (p.Ile51=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689146	NM_000175.5(GPI):c.190G>A (p.Val64Met)	GPI (V103M +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1693741	NM_000175.5(GPI):c.214-12G>A	GPI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2361861	NM_000175.5(GPI):c.229G>A (p.Val77Met)	GPI (V77M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2921105	NM_000175.5(GPI):c.241C>T (p.Arg81Trp)	GPI (R120W +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1323032	NM_000175.5(GPI):c.244del (p.Glu82fs)	GPI (E121fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1034746	NM_000175.5(GPI):c.247C>T (p.Arg83Trp)	GPI (R83W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281520	NM_000175.5(GPI):c.283-31G>A	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2505370	NM_000175.5(GPI):c.283-2A>G	GPI	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 1068750	NM_000175.5(GPI):c.286C>T (p.Arg96Ter)	GPI (R135* +1 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GPathogenic
Select item 2432242	NM_000175.5(GPI):c.287G>A (p.Arg96Gln)	GPI (R135Q +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 3047778	NM_000175.5(GPI):c.300C>T (p.His100=)	GPI	Single nucleotide variant (synonymous variant)	GPI-related disorder	GLikely benign
Select item 1697237	NM_000175.5(GPI):c.301G>A (p.Val101Met)	GPI (V101M +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GPathogenic
Select item 711604	NM_000175.5(GPI):c.317G>A (p.Arg106Gln)	GPI (R106Q +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2207253	NM_000175.5(GPI):c.404G>A (p.Arg135His)	GPI (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2689145	NM_000175.5(GPI):c.413G>A (p.Ser138Asn)	GPI (S138N +1 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 3101308	NM_000175.5(GPI):c.415G>A (p.Gly139Ser)	GPI (G139S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432243	NM_000175.5(GPI):c.418G>A (p.Asp140Asn)	GPI (D140N +1 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2722188	NM_000175.5(GPI):c.454G>A (p.Val152Ile)	GPI (V152I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 13639	NM_000175.5(GPI):c.475G>A (p.Gly159Ser)	GPI (G159S +1 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1563605	NM_000175.5(GPI):c.486+7A>G	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920848	NM_000175.5(GPI):c.487-14A>G	GPI	Single nucleotide variant (intron variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely benign
Select item 740383	NM_000175.5(GPI):c.489A>T (p.Gly163=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 255472	NM_000175.5(GPI):c.489A>G (p.Gly163=)	GPI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2310136	NM_000175.5(GPI):c.491C>T (p.Pro164Leu)	GPI (P136L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649705	NM_000175.5(GPI):c.519A>G (p.Pro173=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751943	NM_000175.5(GPI):c.528A>T (p.Ser176=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163330	NM_000175.5(GPI):c.539G>C (p.Arg180Pro)	GPI (R191P +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1431733	NM_000175.5(GPI):c.541G>A (p.Val181Ile)	GPI (V220I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162839	NM_000175.5(GPI):c.560T>C (p.Ile187Thr)	GPI (I159T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086429	NM_000175.5(GPI):c.569C>T (p.Thr190Ile)	GPI (T201I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811712	NM_000175.5(GPI):c.572A>G (p.His191Arg)	GPI (H163R +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1582754	NM_000175.5(GPI):c.576T>C (p.Ile192=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780175	NM_000175.5(GPI):c.603C>G (p.Pro201=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GBenign/Likely benign
Select item 3101309	NM_000175.5(GPI):c.622A>G (p.Ile208Val)	GPI (I180V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402910	NM_000175.5(GPI):c.623T>C (p.Ile208Thr)	GPI (I208T +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +3 more	GBenign/Likely benign
Select item 1175177	NM_000175.5(GPI):c.637T>A (p.Phe213Ile)	GPI (F185I +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1029693	NM_000175.5(GPI):c.640A>G (p.Thr214Ala)	GPI (T214A +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2279872	NM_000175.5(GPI):c.644C>T (p.Thr215Ile)	GPI (T215I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101310	NM_000175.5(GPI):c.657C>G (p.Ile219Met)	GPI (I191M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 13643	NM_000175.5(GPI):c.671C>T (p.Thr224Met)	GPI (T224M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2139040	NM_000175.5(GPI):c.672G>A (p.Thr224=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2904054	NM_000175.5(GPI):c.681G>T (p.Glu227Asp)	GPI (E199D +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2353066	NM_000175.5(GPI):c.695C>T (p.Ala232Val)	GPI (A204V +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1913143	NM_000175.5(GPI):c.695C>A (p.Ala232Glu)	GPI (A232E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771217	NM_000175.5(GPI):c.696G>A (p.Ala232=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635213	NM_000175.5(GPI):c.705T>A (p.Asp235Glu)	GPI (D207E +3 more)	Single nucleotide variant (missense variant)	GPI-related disorder	GUncertain significance
Select item 1283715	NM_000175.5(GPI):c.706-167C>T	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2432247	NM_000175.5(GPI):c.719C>T (p.Ala240Val)	GPI (A212V +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1272763	NM_000175.5(GPI):c.750+240G>A	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333172	NM_000175.5(GPI):c.751-5dup	GPI	Duplication (intron variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GBenign
Select item 1330568	NM_000175.5(GPI):c.751-5del	GPI	Deletion (intron variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely benign
Select item 791656	NM_000175.5(GPI):c.751-4G>T	GPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439764	NM_000175.5(GPI):c.762G>A (p.Lys254=)	GPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2554802	NM_000175.5(GPI):c.781C>G (p.Gln261Glu)	GPI (Q261E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585258	NM_000175.5(GPI):c.804+1_804+2del	GPI	Deletion (splice donor variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely pathogenic
Select item 2689147	NM_000175.5(GPI):c.805T>C (p.Trp269Arg)	GPI (W241R +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 1697238	NM_000175.5(GPI):c.812del (p.Gly271fs)	GPI (G243fs +3 more)	Deletion (frameshift variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely pathogenic
Select item 2264061	NM_000175.5(GPI):c.817C>G (p.Arg273Gly)	GPI (R312G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683541	NM_000175.5(GPI):c.818G>A (p.Arg273His)	GPI (R245H +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2432248	NM_000175.5(GPI):c.833C>T (p.Ser278Leu)	GPI (S250L +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2432246	NM_000175.5(GPI):c.851T>C (p.Ile284Thr)	GPI (I256T +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 3101311	NM_000175.5(GPI):c.872A>T (p.Asp291Val)	GPI (D330V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301663	NM_000175.5(GPI):c.880G>A (p.Glu294Lys)	GPI (E266K +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2432244	NM_000175.5(GPI):c.885G>T (p.Gln295His)	GPI (Q267H +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2432250	NM_000175.5(GPI):c.892T>G (p.Ser298Ala)	GPI (S270A +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 3101312	NM_000175.5(GPI):c.901C>T (p.His301Tyr)	GPI (H312Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729702	NM_000175.5(GPI):c.907A>C (p.Met303Leu)	GPI (M303L +3 more)	Single nucleotide variant (missense variant)	GPI-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1478415	NM_000175.5(GPI):c.909+5G>A	GPI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3101313	NM_000175.5(GPI):c.923G>A (p.Arg308His)	GPI (R280H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2364276	NM_000175.5(GPI):c.926C>T (p.Thr309Met)	GPI (T320M +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GUncertain significance
Select item 748593	NM_000175.5(GPI):c.927G>A (p.Thr309=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690618	NM_000175.5(GPI):c.937_952dup (p.Val318fs)	GPI (V290fs +3 more)	Duplication (frameshift variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely pathogenic
Select item 994193	NM_000175.5(GPI):c.948C>A (p.Ala316=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +2 more	GBenign
Select item 755594	NM_000175.5(GPI):c.951C>T (p.Pro317=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3101314	NM_000175.5(GPI):c.955T>G (p.Leu319Val)	GPI (L291V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708244	NM_000175.5(GPI):c.987C>T (p.Asn329=)	GPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 740404	NM_000175.5(GPI):c.1008C>T (p.His336=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358825	NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)	GPI (A376T +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GPathogenic
Select item 2557791	NM_000175.5(GPI):c.1012A>G (p.Met338Val)	GPI (M349V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 13645	NM_000175.5(GPI):c.1016T>C (p.Leu339Pro)	GPI (L339P +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency	GPathogenic
Select item 751023	NM_000175.5(GPI):c.1020C>T (p.Pro340=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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