"Revvity Omics, Revvity"[submitter] AND "PACS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434553	NM_018026.4(PACS1):c.286C>T (p.Pro96Ser)	LOC130006099, PACS1 (P96S)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2090787	NM_018026.4(PACS1):c.444+9G>A	PACS1	Single nucleotide variant (intron variant)	Schuurs-Hoeijmakers syndrome	GConflicting classifications of pathogenicity
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	Aortic root aneurysm +12 more	GPathogenic/Likely pathogenic
Select item 2434555	NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)	PACS1 (A229T)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2100247	NM_018026.4(PACS1):c.970A>G (p.Ile324Val)	PACS1 (I324V)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2056834	NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)	PACS1 (T413M)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GConflicting classifications of pathogenicity
Select item 2434554	NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)	PACS1 (S423R)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2434552	NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)	PACS1 (L458V)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance
Select item 2689648	NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)	PACS1 (S770C)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GUncertain significance