"OMIM"[submitter] AND "G6PD"[gene] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10415	NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)	G6PD (P481R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10409	NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)	G6PD (P467R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 100059	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD (R463H +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +4 more	GPathogenic
Select item 100058	NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	G6PD (R459L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 10422	NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	G6PD (R459P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 10379	NM_000402.4(G6PD):c.1451G>A (p.Arg484His)	G6PD (R454H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10371	NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)	G6PD (G447R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 10399	NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)	G6PD (R439P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10366	NM_001360016.2(G6PD):c.1311= (p.Tyr437=)	G6PD	Single nucleotide variant (no sequence alteration)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 10420	G6PD ZURICH	G6PD	Single nucleotide variant (splice acceptor variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10398	NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)	G6PD (G410D +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10378	NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)	G6PD (G410C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic/Likely pathogenic
Select item 10397	NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)	G6PD (V394L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10370	NM_000402.4(G6PD):c.1268G>A (p.Arg423His)	G6PD (R393H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 10376	NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	G6PD (R387H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 10396	NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)	G6PD (R387C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10375	NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)	G6PD (K386E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10377	NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)	G6PD (C385R +1 more)	Single nucleotide variant (missense variant)	G6PD TOMAH +1 more	GPathogenic
Select item 10365	NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)	G6PD	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 10381	NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)	G6PD (E398K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10390	NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)	G6PD (N363K +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10410	NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)	G6PD (A361V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10385	NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)	G6PD (P353S +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +1 more	GPathogenic
Select item 10405	NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	G6PD (L342F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10363	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD (A335T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GPathogenic
Select item 10411	G6PD NARA	G6PD	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10388	NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	G6PD (L323P +1 more)	Single nucleotide variant (missense variant)	G6PD-related condition +4 more	GConflicting classifications of pathogenicity
Select item 10414	NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)	G6PD (Y322H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10401	NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	G6PD (E317K +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +4 more	GPathogenic/Likely pathogenic
Select item 10386	NM_000402.4(G6PD):c.961G>A (p.Val321Met)	G6PD (V291M +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +5 more	GPathogenic/Likely pathogenic
Select item 10362	NM_000402.4(G6PD):c.944G>A (p.Arg315His)	G6PD (R285H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 10372	NM_000402.4(G6PD):c.934G>C (p.Asp312His)	G6PD (D282H +1 more)	Single nucleotide variant (missense variant)	G6PD-related condition +4 more	GConflicting classifications of pathogenicity
Select item 10412	NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)	G6PD (C269Y +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10395	NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)	G6PD (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 10387	NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu)	G6PD (R227L +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency	GPathogenic
Select item 10373	NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)	G6PD (F216L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10383	NM_000402.4(G6PD):c.727G>T (p.Val243Leu)	G6PD (V213L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10417	NM_000402.4(G6PD):c.683G>A (p.Arg228His)	G6PD (R198H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10394	NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)	G6PD (R198P +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10392	NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]	G6PD (R198C +5 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10391	NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	G6PD (R198C +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GPathogenic
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +8 more	GPathogenic/Likely pathogenic
Select item 37203	NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	G6PD (D181V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 10382	NM_001042351.1(G6PD):c.[376A>G;542A>T]	G6PD (D181V +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10407	NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)	G6PD (F173L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 10393	NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	G6PD (N165D +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 10367	NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	G6PD (G163S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GPathogenic/Likely pathogenic
Select item 10374	NM_001360016.2(G6PD):c.486-60C>G	G6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 10364	NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)	G6PD (E156K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10404	NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	G6PD (G131V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 100055	NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	G6PD (N126D +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +4 more	GConflicting classifications of pathogenicity
Select item 10416	NM_000402.4(G6PD):c.298T>C (p.Tyr100His)	G6PD (Y100H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic/Likely pathogenic
Select item 37123	NM_000402.4(G6PD):c.292G>A (p.Val98Met)	G6PD (V68M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 10361	G6PD A-	G6PD (V68M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 10369	NM_000402.4(G6PD):c.262G>A (p.Asp88Asn)	G6PD (D58N +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10402	NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	G6PD (I48T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 10406	NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	G6PD (A44G +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +3 more	GPathogenic
Select item 10400	NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)	G6PD, IKBKG (I66del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10403	NM_000402.4(G6PD):c.185A>G (p.His62Arg)	G6PD, IKBKG (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 10421	G6PD VARNSDORF	G6PD	Deletion	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 10419	G6PD Amsterdam	G6PD (L61del +1 more)	Deletion	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic

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: 61