ClinVar for MedGen (Select 220946) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682322	NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)	RPIA (R227*)	Single nucleotide variant (nonsense)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 1683399	NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)	RPIA (R151*)	Single nucleotide variant (nonsense)	Deficiency of ribose-5-phosphate isomerase +1 more	GPathogenic
Select item 1332818	NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)	RPIA (I257T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GLikely pathogenic
Select item 976162	NM_144563.3(RPIA):c.596+3A>G	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 928792	NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)	RPIA (A85T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GLikely pathogenic
Select item 928791	NM_144563.3(RPIA):c.347-1G>A	RPIA	Single nucleotide variant (splice acceptor variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 898710	NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)	RPIA (R264W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898709	NM_144563.3(RPIA):c.789C>T (p.Asp263=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GConflicting classifications of pathogenicity
Select item 898708	NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)	RPIA (D148G)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 897556	NM_144563.3(RPIA):c.177C>T (p.Ser59=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 897555	NM_144563.3(RPIA):c.57C>T (p.Pro19=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897554	NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)	LOC129934277, RPIA (Q2R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897553	NM_144563.3(RPIA):c.-17C>A	LOC129934277, RPIA	Single nucleotide variant (5 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896020	NM_144563.3(RPIA):c.*783A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896019	NM_144563.3(RPIA):c.*728T>C	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896018	NM_144563.3(RPIA):c.*635A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896017	NM_144563.3(RPIA):c.*591G>T	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896016	NM_144563.3(RPIA):c.*558G>A	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 895737	NM_144563.3(RPIA):c.*281A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 895736	NM_144563.3(RPIA):c.*241A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GLikely benign
Select item 895735	NM_144563.3(RPIA):c.*134A>C	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 895734	NM_144563.3(RPIA):c.*29T>G	RPIA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 635118	NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)	RPIA (W209C)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 337443	NM_144563.3(RPIA):c.*807C>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337442	NM_144563.3(RPIA):c.*712T>C	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337441	NM_144563.3(RPIA):c.*599GTT[1]	RPIA	Microsatellite (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GLikely benign
Select item 337440	NM_144563.3(RPIA):c.*531T>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GBenign
Select item 337439	NM_144563.3(RPIA):c.*291del	RPIA	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 337438	NM_144563.3(RPIA):c.*256C>T	RPIA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 337437	NM_144563.3(RPIA):c.*15G>A	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337436	NM_144563.3(RPIA):c.858A>G (p.Leu286=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GBenign
Select item 337435	NM_144563.3(RPIA):c.738+18del	RPIA	Deletion (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337434	NM_144563.3(RPIA):c.706G>A (p.Val236Met)	RPIA (V236M)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GUncertain significance
Select item 337433	NM_144563.3(RPIA):c.633G>A (p.Lys211=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GBenign
Select item 337432	NM_144563.3(RPIA):c.596+5A>C	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337431	NM_144563.3(RPIA):c.527+11T>C	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337430	NM_144563.3(RPIA):c.493G>A (p.Val165Ile)	RPIA (V165I)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337429	NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)	RPIA (S73C)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337428	NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)	LOC129934277, RPIA (P19T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 13008	NM_144563.3(RPIA):c.404C>T (p.Ala135Val)	RPIA (A135V)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 13007	NM_144563.3(RPIA):c.762del (p.Asn255fs)	RPIA (N255fs)	Deletion (frameshift variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic

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Items: 41