C1863616[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1472897	NM_020928.2(ZSWIM6):c.79_96dup (p.Ser27_Gly32dup)	ZSWIM6	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1636238	NM_020928.2(ZSWIM6):c.498A>G (p.Ala166=)	ZSWIM6	Single nucleotide variant (synonymous variant)	Acromelic frontonasal dysostosis +2 more	GLikely benign
Select item 1049368	NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser)	ZSWIM6 (N491S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 789474	NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=)	ZSWIM6	Single nucleotide variant (synonymous variant)	Acromelic frontonasal dysostosis +4 more	GBenign/Likely benign
Select item 1469970	NM_020928.2(ZSWIM6):c.1781A>G (p.Asn594Ser)	ZSWIM6 (N594S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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