"3billion"[submitter] AND "AGL"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188743	NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	AGL (R34* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 196286	NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	AGL (Q86* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +2 more	GPathogenic/Likely pathogenic
Select item 370509	NM_000642.3(AGL):c.753_756del (p.Asp251fs)	AGL (D235fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1705382	NM_000642.3(AGL):c.893T>C (p.Leu298Pro)	AGL (L282P +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1705407	NM_000642.3(AGL):c.899A>G (p.Glu300Gly)	AGL (E284G +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 429532	NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	AGL (R343W +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 371296	NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	AGL (H360Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1441658	NM_000642.3(AGL):c.1459T>C (p.Trp487Arg)	AGL (W471R +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 1705410	NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)	AGL (L604P +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 526566	NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)	AGL (T645A +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 556632	NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	AGL (Q725fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 281229	NM_000642.3(AGL):c.2681+1G>A	AGL	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease type III +2 more	GPathogenic
Select item 1098	NM_000642.3(AGL):c.4456del (p.Ser1486fs)	AGL (S1470fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III +1 more	GPathogenic