"Illumina Laboratory Services, Illumina"[submitter] AND "ENO3"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324133	NM_053013.3(ENO3):c.-88G>A	ENO3	Single nucleotide variant (genic upstream transcript variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GBenign/Likely benign
Select item 324134	NM_053013.4(ENO3):c.-3+3C>T	ENO3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 892245	NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)	ENO3 (Q4P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 808199	NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)	ENO3 (T26K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +2 more	GUncertain significance
Select item 384380	NM_053013.4(ENO3):c.86-10C>T	ENO3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 324135	NM_053013.4(ENO3):c.86-3del	ENO3	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 324136	NM_053013.4(ENO3):c.212A>G (p.Asn71Ser)	ENO3 (N71S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 324137	NM_053013.4(ENO3):c.226G>C (p.Ala76Pro)	ENO3 (A76P)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency +2 more	GBenign/Likely benign
Select item 388654	NM_053013.4(ENO3):c.249C>T (p.Ser83=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 324138	NM_053013.4(ENO3):c.254T>C (p.Val85Ala)	ENO3 (V85A)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GBenign
Select item 888829	NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)	ENO3 (N109S +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 324139	NM_053013.4(ENO3):c.363G>A (p.Ala121=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GConflicting classifications of pathogenicity
Select item 324140	NM_053013.4(ENO3):c.417G>A (p.Gly139=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 324141	NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)	ENO3 (N151S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324142	NM_053013.4(ENO3):c.554G>T (p.Gly185Val)	ENO3 (G185V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 888830	NM_053013.4(ENO3):c.555C>T (p.Gly185=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GConflicting classifications of pathogenicity
Select item 596808	NM_053013.4(ENO3):c.774T>G (p.Asp258Glu)	ENO3 (D258E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 324143	NM_053013.4(ENO3):c.785A>G (p.Lys262Arg)	ENO3 (K262R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 324144	NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup)	ENO3	Insertion (inframe_insertion)	Glycogen storage disease due to muscle beta-enolase deficiency	GBenign/Likely benign
Select item 890530	NM_053013.4(ENO3):c.788C>T (p.Ser263Leu)	ENO3 (S263L +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 324146	NM_053013.4(ENO3):c.789G>C (p.Ser263=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GBenign/Likely benign
Select item 324145	NM_053013.4(ENO3):c.789G>A (p.Ser263=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GBenign
Select item 324147	NM_053013.4(ENO3):c.834del (p.Glu278fs)	ENO3 (E235fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 324148	NM_053013.4(ENO3):c.993C>T (p.Ala331=)	ENO3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 324149	NM_053013.4(ENO3):c.994G>A (p.Val332Ile)	ENO3 (V332I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 324150	NM_053013.4(ENO3):c.1047G>A (p.Ser349=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GConflicting classifications of pathogenicity
Select item 891094	NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu)	ENO3 (G366E +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 891095	NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu)	ENO3 (G387E +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 324151	NM_053013.4(ENO3):c.1208G>A (p.Arg403His)	ENO3 (R403H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GBenign/Likely benign
Select item 324152	NM_053013.4(ENO3):c.1235+3A>G	ENO3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 891096	NM_053013.4(ENO3):c.1235+7C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance

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Items: 31