"PreventionGenetics, part of Exact Sciences"[submitter] AND "AAGAB"[ge - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050764	NM_024666.5(AAGAB):c.362-10A>T	AAGAB	Single nucleotide variant (intron variant)	AAGAB-related disorder	GLikely benign
Select item 2630130	NM_024666.5(AAGAB):c.50del (p.Phe17fs)	AAGAB, LOC130057363 (F17fs)	Deletion (5 prime UTR variant +2 more)	AAGAB-related disorder	GLikely pathogenic
Select item 3033668	NM_024666.5(AAGAB):c.-10G>A	AAGAB, LOC130057363	Single nucleotide variant (5 prime UTR variant +1 more)	AAGAB-related disorder	GBenign

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