C4749028[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1464229	NM_001372.4(DNAH9):c.39G>C (p.Glu13Asp)	DNAH9 (E13D)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +2 more	GUncertain significance
Select item 1455970	NM_001372.4(DNAH9):c.308del (p.Phe103fs)	DNAH9 (F103fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1273191	NM_001372.4(DNAH9):c.306T>C (p.Phe102=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1599154	NM_001372.4(DNAH9):c.4745+11G>A	DNAH9	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1574113	NM_001372.4(DNAH9):c.5691G>A (p.Ser1897=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1625474	NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val)	DNAH9 (M2087V)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign
Select item 1667298	NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1582076	NM_001372.4(DNAH9):c.6810C>T (p.His2270=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 777132	NM_001372.4(DNAH9):c.8598C>T (p.Ser2866=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 402781	NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=)	DNAH9	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +2 more	GBenign/Likely benign
Select item 1600607	NM_001372.4(DNAH9):c.10422A>G (p.Lys3474=)	DNAH9, LOC101928350	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 40 +1 more	GBenign/Likely benign
Select item 1653887	NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met)	DNAH9, LOC101928350 (T3618M)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 40 +2 more	GConflicting classifications of pathogenicity
Select item 1587767	NM_001372.4(DNAH9):c.10971+10_10971+12del	DNAH9, LOC101928350	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1646199	NM_001372.4(DNAH9):c.11284-20A>G	DNAH9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1536223	NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met)	DNAH9 (K286M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity