"GeneDx"[submitter] AND "PIAS1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279465	NC_000015.10:g.68054211T>C	LOC130057378, PIAS1	Single nucleotide variant	not provided	GBenign
Select item 1221092	NM_016166.3(PIAS1):c.470-185_470-183del	PIAS1	Deletion (intron variant)	not provided	GBenign
Select item 1279301	NM_016166.3(PIAS1):c.470-72_470-71insG	PIAS1	Insertion (intron variant)	not provided	GBenign
Select item 1279140	NM_016166.3(PIAS1):c.693+166C>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279858	NM_016166.3(PIAS1):c.829-176G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242633	NM_016166.3(PIAS1):c.829-16T>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271702	NM_016166.3(PIAS1):c.1009-58C>T	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257108	NM_016166.3(PIAS1):c.1170-215G>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241078	NM_016166.3(PIAS1):c.1301-117T>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289669	NM_016166.3(PIAS1):c.1624+116G>A	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178511	NM_016166.3(PIAS1):c.1624+198T>C	PIAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic