"PreventionGenetics, part of Exact Sciences"[submitter] AND "G6PD"[gen - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93496	NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)	G6PD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1586152	NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GLikely benign
Select item 93494	G6PD:c.1455-13T>C	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GBenign/Likely benign
Select item 193829	NM_001360016.2(G6PD):c.1288-14TC[2]	G6PD	Microsatellite (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 914748	NM_001360016.2(G6PD):c.1287+3G>C	G6PD	Single nucleotide variant (intron variant)	G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 193614	NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 800212	NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)	G6PD (N414H +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2062063	NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)	G6PD	Single nucleotide variant (synonymous variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GLikely benign
Select item 3032932	NM_001360016.2(G6PD):c.981G>A (p.Thr327=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD-related disorder	GLikely benign
Select item 10388	NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	G6PD (L323P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1081806	NM_001360016.2(G6PD):c.957C>T (p.Thr319=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD-related disorder +2 more	GLikely benign
Select item 2631099	NM_001360016.2(G6PD):c.922T>C (p.Tyr308His)	G6PD (Y308H +1 more)	Single nucleotide variant (missense variant)	G6PD-related disorder	GUncertain significance
Select item 3032490	NM_001360016.2(G6PD):c.864+40G>A	G6PD	Single nucleotide variant (intron variant)	G6PD-related disorder	GLikely benign
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 +4 more	GConflicting classifications of pathogenicity
Select item 799620	NM_001360016.2(G6PD):c.645-8_645-5del	G6PD	Microsatellite (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GBenign/Likely benign
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	Decreased glucose-6-phosphate dehydrogenase level in blood +8 more	GPathogenic/Likely pathogenic
Select item 3047764	NM_001360016.2(G6PD):c.546G>A (p.Arg182=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD-related disorder	GLikely benign
Select item 2174752	NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)	G6PD (L172V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GUncertain significance
Select item 759406	NM_001360016.2(G6PD):c.311G>A (p.Arg104His)	G6PD (R104H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GBenign/Likely benign
Select item 1110502	NM_001360016.2(G6PD):c.207C>T (p.Gly69=)	G6PD	Single nucleotide variant (synonymous variant)	G6PD-related disorder +1 more	GLikely benign
Select item 1699101	NM_001360016.2(G6PD):c.120+3625G>A	G6PD, IKBKG +1 more (R50C)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia and immunodeficiency 1 +1 more	GLikely benign
Select item 811461	NM_001360016.2(G6PD):c.120+3617T>C	G6PD, IKBKG +1 more	Single nucleotide variant (synonymous variant +1 more)	IKBKG-related disorder +2 more	GBenign/Likely benign
Select item 3036272	NM_001360016.2(G6PD):c.-9+9C>A	G6PD, IKBKG +2 more	Single nucleotide variant (intron variant)	G6PD-related disorder	GLikely benign
Select item 3043617	NM_001360016.2(G6PD):c.-14G>A	G6PD, IKBKG +2 more (S26N)	Single nucleotide variant (missense variant +2 more)	G6PD-related disorder	GBenign
Select item 2628726	NM_001360016.2(G6PD):c.-17G>T	G6PD, IKBKG +2 more (R25L)	Single nucleotide variant (missense variant +2 more)	G6PD-related disorder	GUncertain significance

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Items: 25