"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679432	NC_000019.10:g.34364916G>A	GPI (A3T)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GUncertain significance
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 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 +1 more	GUncertain significance
Select item 811678	NM_000175.5(GPI):c.122+20G>A	GPI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1068750	NM_000175.5(GPI):c.286C>T (p.Arg96Ter)	GPI (R135* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 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 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 255472	NM_000175.5(GPI):c.489A>G (p.Gly163=)	GPI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 780175	NM_000175.5(GPI):c.603C>G (p.Pro201=)	GPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 402910	NM_000175.5(GPI):c.623T>C (p.Ile208Thr)	GPI (I208T +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 439764	NM_000175.5(GPI):c.762G>A (p.Lys254=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GBenign
Select item 729702	NM_000175.5(GPI):c.907A>C (p.Met303Leu)	GPI (M303L +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +2 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 +1 more	GBenign
Select item 708244	NM_000175.5(GPI):c.987C>T (p.Asn329=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GBenign/Likely benign
Select item 1358825	NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)	GPI (A376T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1679425	NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)	GPI (R319C +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GPathogenic
Select item 13640	NM_000175.5(GPI):c.1040G>A (p.Arg347His)	GPI (R347H +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glucophosphate isomerase deficiency	GPathogenic/Likely pathogenic
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 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 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 994261	NM_000175.5(GPI):c.1270-9G>A	GPI	Single nucleotide variant (intron variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GConflicting classifications of pathogenicity
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 780554	NM_000175.5(GPI):c.1356G>C (p.Ala452=)	GPI	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glucophosphate isomerase deficiency +1 more	GBenign
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 738456	NM_000175.5(GPI):c.1497C>T (p.Phe499=)	GPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30