"GPI-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2649704	NM_000175.5(GPI):c.45A>G (p.Gln15=)	GPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 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 780554	NM_000175.5(GPI):c.1356G>C (p.Ala452=)	GPI	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 3035307	NM_000175.5(GPI):c.1473C>T (p.Val491=)	GPI	Single nucleotide variant (synonymous variant)	GPI-related disorder	GLikely benign
Select item 738456	NM_000175.5(GPI):c.1497C>T (p.Phe499=)	GPI	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign