"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SNAP29"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 340831	NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)	SNAP29 (Y44H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 235384	NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys)	SNAP29 (E89K)	Single nucleotide variant (missense variant)	CEDNIK syndrome +2 more	GBenign/Likely benign
Select item 235285	NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly)	SNAP29 (S163G)	Single nucleotide variant (missense variant)	CEDNIK syndrome +1 more	GBenign/Likely benign

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