C2720289[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441602	NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)	G6PD (M496R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1478217	NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)	G6PD (L474V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 100059	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD (R463H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 100058	NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	G6PD (R459L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 93493	NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	G6PD (R454C +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +3 more	GPathogenic
Select item 1722629	NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)	G6PD (V453E +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722624	NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)	G6PD (V444I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 439743	NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)	G6PD (L440F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 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 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 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 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 93489	NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)	G6PD (D350H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 10405	NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	G6PD (L342F +1 more)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C +3 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)	Inborn genetic diseases +4 more	GPathogenic
Select item 10411	G6PD NARA	G6PD	Deletion (inframe_deletion)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +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 2441601	NM_001360016.2(G6PD):c.909_911del (p.Val304del)	G6PD (V304del +1 more)	Deletion (inframe_deletion)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 10386	NM_000402.4(G6PD):c.961G>A (p.Val321Met)	G6PD (V291M +1 more)	Single nucleotide variant (missense variant)	G6PD deficient hemolytic anemia +5 more	GPathogenic/Likely pathogenic
Select item 1324435	NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	G6PD (T279S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 10383	NM_000402.4(G6PD):c.727G>T (p.Val243Leu)	G6PD (V213L +1 more)	Single nucleotide variant (missense variant)	Abnormal circulating glucose-6-phosphate dehydrogenase concentration +2 more	GPathogenic/Likely pathogenic
Select item 1722746	NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	G6PD (M212V +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 2441604	NM_001360016.2(G6PD):c.553A>C (p.Asn185His)	G6PD (N185H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 10367	NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	G6PD (G163S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1075240	NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	G6PD (R136C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 854215	NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)	G6PD (N135T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 10404	NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	G6PD (G131V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 968939	NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	G6PD (L128R +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GPathogenic/Likely pathogenic
Select item 93499	NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	G6PD (L128P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1546331	NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)	G6PD (N126Y +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 449323	NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	G6PD (Y100C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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)	not provided +3 more	GPathogenic
Select item 10403	NM_000402.4(G6PD):c.185A>G (p.His62Arg)	G6PD, IKBKG (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset coronary artery disease +4 more	GPathogenic/Likely pathogenic
Select item 2441600	NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)	G6PD, IKBKG (R17Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance

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: 38