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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168498	NM_170601.5(SIAE):c.1452G>A (p.Thr484=)	SIAE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1660388	NM_170601.5(SIAE):c.1416T>A (p.His472Gln)	SIAE (H437Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1600080	NM_170601.5(SIAE):c.1320+8_1320+10del	SIAE	Microsatellite (intron variant)	SIAE-related disorder +1 more	GBenign/Likely benign
Select item 3037277	NM_170601.5(SIAE):c.873C>T (p.Cys291=)	SIAE	Single nucleotide variant (synonymous variant)	SIAE-related disorder	GLikely benign
Select item 1161656	NM_170601.5(SIAE):c.860A>T (p.Asp287Val)	SIAE (D252V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1632102	NM_170601.5(SIAE):c.857C>T (p.Thr286Met)	SIAE (T251M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1165882	NM_170601.5(SIAE):c.633C>T (p.Ile211=)	SIAE	Single nucleotide variant (synonymous variant)	SIAE-related disorder +1 more	GBenign
Select item 1351	NM_170601.5(SIAE):c.587G>T (p.Cys196Phe)	SIAE (C196F +1 more)	Single nucleotide variant (missense variant)	SIAE-related disorder +1 more	GUncertain significance
Select item 1168499	NM_170601.5(SIAE):c.468T>C (p.Ser156=)	SIAE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3044962	NM_170601.5(SIAE):c.255A>G (p.Val85=)	SIAE	Single nucleotide variant (synonymous variant)	SIAE-related disorder	GLikely benign
Select item 1037514	NM_170601.5(SIAE):c.25G>C (p.Gly9Arg)	SIAE (G9R)	Single nucleotide variant (missense variant +1 more)	SIAE-related disorder +1 more	GUncertain significance
Select item 1156883	NM_170601.5(SIAE):c.8C>G (p.Ala3Gly)	SIAE (A3G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign