C1864205[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294191	NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)	HMCN1	Single nucleotide variant (synonymous variant)	Age related macular degeneration 1 +1 more	GBenign/Likely benign
Select item 790495	NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)	HMCN1 (V3540I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GLikely benign
Select item 294255	NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)	HMCN1 (V4314A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1550843	NM_031935.3(HMCN1):c.14266+19_14266+22del	HMCN1	Deletion (intron variant)	Age related macular degeneration 1 +1 more	GLikely benign
Select item 875905	NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)	HMCN1 (T4913N)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GConflicting classifications of pathogenicity
Select item 199238	NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)	HMCN1, LOC129388665 (T5004S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign
Select item 199239	NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)	HMCN1, LOC129388665 (T5004I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign
Select item 730391	NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)	CFHR3 (F34C)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +3 more	GBenign/Likely benign
Select item 775633	NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)	CFHR3 (R142C)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GBenign
Select item 730392	NM_021023.6(CFHR3):c.720G>C (p.Gln240His)	CFHR3 (Q179H +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign
Select item 774401	NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)	CFHR3 (I269V +1 more)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GLikely benign
Select item 1163768	NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)	CFHR3 (I219fs +1 more)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 775634	NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)	CFHR3 (I251F +1 more)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 1678086	NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)	CFHR1	Deletion (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 17880	NM_000041.4(APOE):c.127C>T (p.Arg43Cys)	APOE (R43C +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +6 more	GPathogenic/Likely pathogenic
Select item 760030	NM_000041.4(APOE):c.249C>T (p.Asp83=)	APOE	Single nucleotide variant (synonymous variant)	Lipoprotein glomerulopathy +8 more	GLikely benign
Select item 478904	NM_000041.4(APOE):c.434G>A (p.Gly145Asp)	APOE (G145D +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia +7 more	GUncertain significance
Select item 779286	NM_000041.4(APOE):c.651C>T (p.Ala217=)	APOE	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +8 more	GBenign/Likely benign
Select item 1315806	NM_000041.4(APOE):c.688G>A (p.Glu230Lys)	APOE (E230K +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +7 more	GUncertain significance
Select item 478884	NM_000041.4(APOE):c.805C>G (p.Arg269Gly)	APOE (R269G +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia +8 more	GUncertain significance

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Items: 21