"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CFHR3"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775632	NM_021023.6(CFHR3):c.10C>T (p.Leu4=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709013	NM_021023.6(CFHR3):c.27G>A (p.Leu9=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774281	NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala)	CFHR3 (G18A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +1 more	GBenign
Select item 782688	NM_021023.6(CFHR3):c.58+8A>G	CFHR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730391	NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)	CFHR3 (F34C)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 767739	NM_021023.6(CFHR3):c.299A>G (p.Tyr100Cys)	CFHR3 (Y100C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748796	NM_021023.6(CFHR3):c.306A>G (p.Arg102=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761758	NM_021023.6(CFHR3):c.354C>T (p.Tyr118=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	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 771691	NM_021023.6(CFHR3):c.613+2T>C	CFHR3	Single nucleotide variant (splice donor variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 778240	NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser)	CFHR3 (P180S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 736314	NM_021023.6(CFHR3):c.756A>T (p.Thr252=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771316	NM_021023.6(CFHR3):c.786A>T (p.Pro262=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 774401	NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)	CFHR3 (I269V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
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 734286	NM_021023.6(CFHR3):c.958C>A (p.Arg320=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 734287	NM_021023.6(CFHR3):c.966G>C (p.Gly322=)	CFHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1446722	NC_000001.10:g.(?_196621248)_(197447009_?)dup	ASPM, CFH +8 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance

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Items: 21