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

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 60420	GRCh38/hg38 Xq28(chrX:154336596-154642063)x2	ATP6AP1, ATP6AP1-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 60422	GRCh38/hg38 Xq28(chrX:154394598-154626056)x2	ATP6AP1, ATP6AP1-DT +42 more	Copy number gain	See cases	GUncertain significance
Select item 58018	GRCh38/hg38 Xq28(chrX:154394598-154554969)x1	ATP6AP1, ATP6AP1-DT +37 more	Copy number loss	See cases	GPathogenic
Select item 1234895	NM_001360016.2(G6PD):c.*66GGA[1]	G6PD	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1809844	NM_001360016.2(G6PD):c.1537C>T (p.His513Tyr)	G6PD (H513Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93496	NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD deficiency +3 more	GBenign/Likely benign
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)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 93494	G6PD:c.1455-13T>C	G6PD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1198343	NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)	G6PD (R454P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GBenign/Likely benign
Select item 1722614	NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)	G6PD (G378S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10365	NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GBenign/Likely benign
Select item 10363	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD (A335T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic
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 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 10386	NM_000402.4(G6PD):c.961G>A (p.Val321Met)	G6PD (V291M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1251907	NM_001360016.2(G6PD):c.865-221C>T	G6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265108	NM_001360016.2(G6PD):c.864+163C>T	G6PD	Single nucleotide variant (intron variant)	not provided +1 more	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 1262984	NM_001360016.2(G6PD):c.770+175C>T	G6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 835994	NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)	G6PD (V233I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1722746	NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	G6PD (M212V +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 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 +7 more	GPathogenic/Likely pathogenic
Select item 3252614	NM_001360016.2(G6PD):c.551C>A (p.Ser184Tyr)	G6PD (S184Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +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)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic/Likely pathogenic
Select item 439744	NM_001360016.2(G6PD):c.486-34del	G6PD	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 10374	NM_001360016.2(G6PD):c.486-60C>G	G6PD	Single nucleotide variant (intron variant)	not provided	GBenign
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 449323	NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	G6PD (Y100C +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 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)	G6PD deficiency +5 more	GPathogenic/Likely pathogenic
Select item 1700388	NM_001360016.2(G6PD):c.194C>A (p.Thr65Asn)	G6PD (T65N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 1229927	NM_001360016.2(G6PD):c.121-135A>G	G6PD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283798	NM_001360016.2(G6PD):c.121-270G>A	G6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228119	NM_001360016.2(G6PD):c.120+235G>A	G6PD, IKBKG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246459	NM_001360016.2(G6PD):c.120+199dup	G6PD, IKBKG	Duplication (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GBenign
Select item 1203666	NM_001360016.2(G6PD):c.120+199del	G6PD, IKBKG	Deletion (intron variant)	not provided	GLikely benign
Select item 1237186	NM_001042351.3(G6PD):c.-9+340=	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280478	NM_001042351.3(G6PD):c.-9+323=	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253514	GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	CTAG1A, MPP1 +19 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 65