ClinVar for MedGen (Select 473706) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339211	NM_000402.4:c.[292G>A;466A>G]	G6PD	Indel	G6PD deficiency	GPathogenic
Select item 1722747	NM_001360016.2(G6PD):c.[376A>G;680G>T]	G6PD (R227L +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722739	NM_001360016.2(G6PD):c.[143T>C;563C>T]	G6PD (I48T +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722726	NM_001360016.2(G6PD):c.[376A>G;463C>G]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722723	NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]	G6PD (L128P +5 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722711	NM_001360016.2(G6PD):c.[143T>C;202G>A]	G6PD (I48T +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722698	NM_001360016.2(G6PD):c.[376A>G;563C>T]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722697	NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]	G6PD (V68M +5 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722696	NM_001360016.2(G6PD):c.[202G>A;563C>T]	G6PD (V68M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722693	NM_001360016.2(G6PD):c.[311G>A;376A>G]	G6PD (N126D +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1722642	NM_001360016.2(G6PD):c.[1376G>T;1502T>G]	G6PD (R459L +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722641	NM_001360016.2(G6PD):c.[1116G>A;1311=]	G6PD	Single nucleotide variant (synonymous variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GBenign
Select item 1722634	NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)	G6PD (R459G +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +1 more	GLikely pathogenic
Select item 1722628	NM_001360016.2(G6PD):c.[1347G>C;1360C>T]	G6PD (R454C +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722622	NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]	G6PD (V68M +5 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722617	NM_001360016.2(G6PD):c.[1159C>T;376A>G]	G6PD (R387C +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722606	NM_001360016.2(G6PD):c.[1048G>C;406C>T]	G6PD (D350H +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722597	NM_001360016.2(G6PD):c.[376A>G;871G>A]	G6PD (V291M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722596	NM_001360016.2(G6PD):c.[202G>A;871G>A]	G6PD (V291M +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1324435	NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	G6PD (T279S +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1065168	NM_001360016.2(G6PD):c.[376A>G;968T>C]	G6PD (L323P +3 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic
Select item 914799	NM_001042351.3(G6PD):c.-23G>A	G6PD, IKBKG +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	G6PD deficiency	GUncertain significance
Select item 914798	NM_001042351.3(G6PD):c.-9+14C>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	G6PD deficiency	GUncertain significance
Select item 914797	NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)	G6PD, IKBKG (D60Y +1 more)	Single nucleotide variant (missense variant +1 more)	G6PD deficiency	GUncertain significance
Select item 914748	NM_001360016.2(G6PD):c.1287+3G>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GUncertain significance
Select item 914747	NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)	G6PD (E524K +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency	GUncertain significance
Select item 914746	NM_001360016.2(G6PD):c.*75C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 914745	NM_001360016.2(G6PD):c.*281C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 914297	NM_001360016.2(G6PD):c.297G>A (p.Glu99=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 914296	NM_001360016.2(G6PD):c.645-12C>T	G6PD	Single nucleotide variant (intron variant)	G6PD deficiency	GUncertain significance
Select item 914295	NM_001360016.2(G6PD):c.750C>T (p.Phe250=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 914255	NM_001360016.2(G6PD):c.*466C>G	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 914254	NM_001360016.2(G6PD):c.*548C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 914253	NM_001360016.2(G6PD):c.*599C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 913156	NM_001360016.2(G6PD):c.1051+15C>A	G6PD	Single nucleotide variant (intron variant)	G6PD deficiency	GUncertain significance
Select item 913155	NM_001360016.2(G6PD):c.1101C>T (p.Ala367=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD deficiency	GUncertain significance
Select item 800212	NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)	G6PD (N414H +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368104	NM_001042351.2(G6PD):c.-111A>G	G6PD, IKBKG +1 more	Single nucleotide variant (intron variant)	G6PD deficiency +1 more	GBenign/Likely benign
Select item 368103	NM_001360016.2(G6PD):c.120+7A>C	G6PD, IKBKG	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368102	NM_001360016.2(G6PD):c.485+13G>A	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368101	NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)	G6PD (D194E +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368100	NM_001360016.2(G6PD):c.771-11T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368099	NM_001360016.2(G6PD):c.864+14C>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368098	NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368097	NM_001360016.2(G6PD):c.*25C>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 368096	NM_001360016.2(G6PD):c.*357=	G6PD	Single nucleotide variant (no sequence alteration)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GBenign/Likely benign
Select item 368095	NM_001360016.2(G6PD):c.*365G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368094	NM_001360016.2(G6PD):c.*520G>A	G6PD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368093	NM_001360016.2(G6PD):c.*535G>T	G6PD	Single nucleotide variant (3 prime UTR variant)	G6PD deficiency	GUncertain significance
Select item 193829	NM_001360016.2(G6PD):c.1288-14TC[2]	G6PD	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 100059	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD (R463H +1 more)	Single nucleotide variant (missense variant)	not provided +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 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	not provided +7 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 93499	NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	G6PD (L128P +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 93496	NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)	G6PD	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 93494	G6PD:c.1455-13T>C	G6PD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 93493	NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	G6PD (R454C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 93489	NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)	G6PD (D350H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37203	NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	G6PD (D181V +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +3 more	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 specified +5 more	GPathogenic/Likely pathogenic
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 10406	NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	G6PD (A44G +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 10405	NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	G6PD (L342F +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +2 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 +4 more	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 10401	NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	G6PD (E317K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely 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 10388	NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	G6PD (L323P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 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 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 10374	NM_001360016.2(G6PD):c.486-60C>G	G6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 10372	NM_000402.4(G6PD):c.934G>C (p.Asp312His)	G6PD (D282H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
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 10366	NM_001360016.2(G6PD):c.1311= (p.Tyr437=)	G6PD	Single nucleotide variant (no sequence alteration)	not provided +3 more	GBenign/Likely benign
Select item 10365	NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)	G6PD	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 +2 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/Established risk allele

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Items: 80