"MVZ Medizinische Genetik Mainz"[submitter] AND "CFH"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234076	NM_000186.4(CFH):c.245-1G>C	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 3066191	NM_000186.4(CFH):c.284C>A (p.Thr95Asn)	CFH (T95N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3236204	NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)	CFH (C385F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3256678	NM_000186.4(CFH):c.1159+4A>T	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3066309	NM_000186.4(CFH):c.1520-2A>G	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3236385	NM_000186.4(CFH):c.1609del (p.His537fs)	CFH (H537fs)	Deletion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 3236130	NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)	CFH (C564R)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3066382	NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)	CFH (C870Y)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3236014	NM_000186.4(CFH):c.3104G>A (p.Ser1035Asn)	CFH (S1035N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance