C0002395[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE, HFE-AS1 (H63D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
Select item 11	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	HFE, HFE-AS1 (S65C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 18088	NM_000484.4(APP):c.2149G>A (p.Val717Ile)	APP (V717I +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +3 more	GPathogenic
Select item 705044	NM_000484.4(APP):c.2148C>T (p.Ile716=)	APP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 339629	NM_000484.4(APP):c.2124C>T (p.Gly708=)	APP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 339631	NM_000484.4(APP):c.1840A>G (p.Ser614Gly)	APP (S614G +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +3 more	GBenign/Likely benign
Select item 1643179	NM_000484.4(APP):c.1458+18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease +2 more	GBenign/Likely benign
Select item 1522518	NM_000484.4(APP):c.1450C>T (p.Pro484Ser)	APP (P484S +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease +2 more	GConflicting classifications of pathogenicity
Select item 851473	NM_000484.4(APP):c.1037C>A (p.Ser346Tyr)	APP (S290Y +1 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease +2 more	GUncertain significance
Select item 339642	NM_000484.4(APP):c.674T>C (p.Val225Ala)	APP (V225A +3 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +2 more	GUncertain significance
Select item 894989	NM_000484.4(APP):c.47G>A (p.Arg16Gln)	APP (R16Q)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease +2 more	GUncertain significance