ClinVar for Gene (Select 2821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235007	NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)	GPI (T337I +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
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 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 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 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 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 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 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 3065969	NM_000175.5(GPI):c.1607C>T (p.Thr536Ile)	GPI (T508I +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	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 3047778	NM_000175.5(GPI):c.300C>T (p.His100=)	GPI	Single nucleotide variant (synonymous variant)	GPI-related disorder	GLikely benign
Select item 3035307	NM_000175.5(GPI):c.1473C>T (p.Val491=)	GPI	Single nucleotide variant (synonymous variant)	GPI-related disorder	GLikely benign
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 3033365	NM_001289789.1(GPI):c.82C>T (p.Gln28Ter)	GPI (Q28*)	Single nucleotide variant (nonsense)	GPI-related disorder	GLikely pathogenic
Select item 2984103	NM_000175.5(GPI):c.1063-13G>A	GPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921131	NM_000175.5(GPI):c.1063-13G>C	GPI	Single nucleotide variant (intron variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely benign
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 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 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 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 2788807	NM_000175.5(GPI):c.1420A>G (p.Thr474Ala)	GPI (T474A +4 more)	Single nucleotide variant (missense variant)	not provided	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 2705368	NM_000175.5(GPI):c.1140G>A (p.Trp380Ter)	GPI (W352* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2690617	NM_000175.5(GPI):c.1498_1501del (p.Val500fs)	GPI (V472fs +4 more)	Deletion (frameshift variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely pathogenic
Select item 2689148	NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)	GPI (G333R +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
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 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 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 2689144	NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)	GPI (S504G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2683489	NM_000175.5(GPI):c.1657C>T (p.Arg553Cys)	GPI (R525C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649707	NM_000175.5(GPI):c.1356G>A (p.Ala452=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2649706	NM_000175.5(GPI):c.1122G>A (p.Gln374=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649705	NM_000175.5(GPI):c.519A>G (p.Pro173=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2572522	NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)	GPI (Q385R +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
Select item 2562251	NM_000175.5(GPI):c.1109G>A (p.Arg370His)	GPI (R381H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 2506149	NM_000175.5(GPI):c.1269+1G>A	GPI	Single nucleotide variant (splice donor variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely pathogenic
Select item 2505370	NM_000175.5(GPI):c.283-2A>G	GPI	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2466243	NM_000175.5(GPI):c.1568A>C (p.Lys523Thr)	GPI (K562T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436673	NM_000175.5(GPI):c.1415G>A (p.Arg472His)	GPI (R444H +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GPathogenic
Select item 2432252	NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)	GPI (Y313C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432251	NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)	GPI (N519S +4 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 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 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 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 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 2432245	NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)	GPI (P428A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2395597	NM_000175.5(GPI):c.1431T>G (p.Ile477Met)	GPI (I449M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384721	NM_000175.5(GPI):c.1597G>T (p.Ala533Ser)	GPI (A544S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384560	NM_000175.5(GPI):c.1397A>C (p.Lys466Thr)	GPI (K438T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 2338691	NM_000175.5(GPI):c.1479G>A (p.Met493Ile)	GPI (M504I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2258621	NM_000175.5(GPI):c.1668A>C (p.Arg556Ser)	GPI (R595S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223063	NM_000175.5(GPI):c.1322C>T (p.Ser441Leu)	GPI (S480L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2175519	NM_000175.5(GPI):c.1065C>T (p.Gly355=)	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 2139040	NM_000175.5(GPI):c.672G>A (p.Thr224=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1985202	NM_000175.5(GPI):c.153C>T (p.Ile51=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914170	NM_000175.5(GPI):c.1541+11C>T	GPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1701363	NM_000175.5(GPI):c.1542-7_1542-6delinsCC	GPI	Indel (intron variant)	not provided	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 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 1693742	NM_000175.5(GPI):c.1618G>A (p.Ala540Thr)	GPI (A512T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1679475	NM_000175.5(GPI):c.1144G>T (p.Glu382Ter)	GPI (E354* +3 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to glucophosphate isomerase deficiency	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 1679425	NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)	GPI (R319C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1582754	NM_000175.5(GPI):c.576T>C (p.Ile192=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563605	NM_000175.5(GPI):c.486+7A>G	GPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1478415	NM_000175.5(GPI):c.909+5G>A	GPI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 1347400	NM_000175.5(GPI):c.1227G>A (p.Pro409=)	GPI	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1333172	NM_000175.5(GPI):c.751-5dup	GPI	Duplication (intron variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GBenign
Select item 1330929	NM_000175.5(GPI):c.1143G>C (p.Gly381=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GLikely benign
Select item 1330722	NM_000175.5(GPI):c.1325C>T (p.Thr442Met)	GPI (T414M +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GUncertain significance
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 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic

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