"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AAGAB"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 871411	NM_024666.5(AAGAB):c.674G>A (p.Gly225Asp)	AAGAB (G116D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 807278	NM_024666.5(AAGAB):c.554G>A (p.Ser185Asn)	AAGAB (S185N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711385	NM_024666.5(AAGAB):c.535+4901T>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708822	NM_024666.5(AAGAB):c.329T>A (p.Met110Lys)	AAGAB (M110K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3026517	NM_024666.5(AAGAB):c.140G>A (p.Trp47Ter)	AAGAB (W47*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 624539	GRCh37/hg19 15q23(chr15:67529106-67665817)x1	AAGAB, IQCH	Copy number loss	not provided	GUncertain significance
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

ClinVar