"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206245	NM_000642.3(AGL):c.82+1565T>G	AGL (I7S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 256718	NM_000642.3(AGL):c.112A>G (p.Thr38Ala)	AGL (T38A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 256726	NM_000642.3(AGL):c.207T>C (p.Asn69=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 736876	NM_000642.3(AGL):c.684C>T (p.Ile228=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 439395	NM_000642.3(AGL):c.767G>A (p.Arg256His)	AGL (R256H +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 456516	NM_000642.3(AGL):c.968G>A (p.Arg323Gln)	AGL (R323Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 445557	NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	AGL (R343Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 256719	NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	AGL (K385N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2921005	NM_000642.3(AGL):c.1284-16A>G	AGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 456453	NM_000642.3(AGL):c.1284-4A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 256721	NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)	AGL (S440F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 256723	NM_000642.3(AGL):c.1481G>A (p.Arg494His)	AGL (R494H +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 291333	NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	AGL (H587Y +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 456459	NM_000642.3(AGL):c.1810T>G (p.Phe604Val)	AGL (F604V +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 382454	NM_000642.3(AGL):c.1875G>T (p.Thr625=)	AGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289630	NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)	AGL (E629K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456466	NM_000642.3(AGL):c.2088C>T (p.Ser696=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +1 more	GLikely benign
Select item 422718	NM_000642.3(AGL):c.2158-18_2158-16del	AGL	Microsatellite (intron variant)	Glycogen storage disease type III +2 more	GLikely benign
Select item 456470	NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	AGL (N797S +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 256727	NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)	AGL (S841F +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 256728	NM_000642.3(AGL):c.2546+10T>C	AGL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 256729	NM_000642.3(AGL):c.2802A>C (p.Ala934=)	AGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 256731	NM_000642.3(AGL):c.2883A>G (p.Arg961=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +2 more	GBenign/Likely benign
Select item 256732	NM_000642.3(AGL):c.2885C>G (p.Ser962Cys)	AGL (S962C +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 256736	NM_000642.3(AGL):c.3260-19G>A	AGL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256739	NM_000642.3(AGL):c.3384G>A (p.Ala1128=)	AGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 256741	NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)	AGL (A1207T +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 256743	NM_000642.3(AGL):c.3758G>A (p.Arg1253His)	AGL (R1253H +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GBenign/Likely benign
Select item 381841	NM_000642.3(AGL):c.3792A>T (p.Gly1264=)	AGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 256745	NM_000642.3(AGL):c.3849T>C (p.Ala1283=)	AGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 970616	NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)	AGL (K1380E +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 31