C4551773[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 778789	NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)	KCNH1 (Q896P +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 707476	NM_172362.3(KCNH1):c.2448G>A (p.Ala816=)	KCNH1	Single nucleotide variant (synonymous variant)	Temple-Baraitser syndrome +2 more	GBenign/Likely benign
Select item 183418	NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	KCNH1 (G469R +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 1174747	NM_172362.3(KCNH1):c.80-19dup	KCNH1	Duplication (intron variant)	Zimmermann-Laband syndrome 1 +2 more	GBenign/Likely benign
Select item 1206068	NM_172362.3(KCNH1):c.80-6del	KCNH1	Deletion (intron variant)	Temple-Baraitser syndrome +2 more	GBenign

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