"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALG3"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259884	NM_005787.6(ALG3):c.*50T>G	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 3051622	NM_005787.6(ALG3):c.*5C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-related disorder	GLikely benign
Select item 2741581	NM_005787.6(ALG3):c.1242C>T (p.Ala414=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder +1 more	GLikely benign
Select item 3033031	NM_005787.6(ALG3):c.1154+5C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-related disorder	GLikely benign
Select item 2060733	NM_005787.6(ALG3):c.945T>C (p.Ser315=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder +1 more	GLikely benign
Select item 344350	NM_005787.6(ALG3):c.933-4C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 344352	NM_005787.6(ALG3):c.845C>T (p.Ala282Val)	ALG3 (A282V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 259885	NM_005787.6(ALG3):c.727-50T>C	ALG3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3047306	NM_005787.6(ALG3):c.540G>A (p.Val180=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder	GLikely benign
Select item 2732576	NM_005787.6(ALG3):c.456C>T (p.Phe152=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder +1 more	GLikely benign
Select item 3047002	NM_005787.6(ALG3):c.186C>T (p.His62=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-related disorder	GLikely benign
Select item 3046668	NM_005787.6(ALG3):c.54G>A (p.Glu18=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-related disorder	GLikely benign
Select item 1702746	NM_001006941.2(ALG3):c.52+9G>A	ALG3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3050161	NM_001006941.2(ALG3):c.15G>A (p.Gln5=)	ALG3, LOC129938049	Single nucleotide variant (synonymous variant)	ALG3-related disorder	GLikely benign