"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68778	NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp)	CARD14, SGSH (R682W)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GBenign
Select item 572536	NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)	CARD14, LOC126862662 +1 more (R826W)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 527887	NM_001366385.1(CARD14):c.2496C>T (p.Leu832=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 527886	NM_001366385.1(CARD14):c.2569+4T>C	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 68780	NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)	CARD14, SGSH (D973E)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GBenign/Likely benign
Select item 92607	NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)	SGSH (V361I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GBenign

ClinVar