"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CFHR4"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682699	NM_001201550.3(CFHR4):c.44G>T (p.Cys15Phe)	CFHR4 (C15F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380373	NM_001201550.3(CFHR4):c.51T>A (p.Asn17Lys)	CFHR4 (N17K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 827994	NM_001201550.3(CFHR4):c.119G>A (p.Arg40His)	CFHR4 (R39H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2503967	NM_001201550.3(CFHR4):c.204G>A (p.Trp68Ter)	CFHR4 (W67* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 3380380	NM_001201550.3(CFHR4):c.243_244delinsAA (p.Val82Ile)	CFHR4 (V81I +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3380385	NM_001201550.3(CFHR4):c.278T>C (p.Val93Ala)	CFHR4 (V92A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682700	NM_001201550.3(CFHR4):c.476C>T (p.Ala159Val)	CFHR4 (A158V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682701	NM_001201550.3(CFHR4):c.596C>A (p.Ser199Tyr)	CFHR4 (S198Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2224911	NM_001201550.3(CFHR4):c.617A>G (p.Asn206Ser)	CFHR4 (N205S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2682702	NM_001201550.3(CFHR4):c.630C>G (p.Asn210Lys)	CFHR4 (N209K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380387	NM_001201550.3(CFHR4):c.799+3A>C	CFHR4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380391	NM_001201550.3(CFHR4):c.925A>T (p.Thr309Ser)	CFHR4 (T308S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380395	NM_001201550.3(CFHR4):c.953T>C (p.Ile318Thr)	CFHR4 (I317T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1285145	NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile)	CFHR4 (T327I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380400	NM_001201550.3(CFHR4):c.1334G>A (p.Trp445Ter)	CFHR4 (W198* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3380403	NM_001201550.3(CFHR4):c.1518G>C (p.Trp506Cys)	CFHR4 (W259C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380408	NM_001201550.3(CFHR4):c.1520C>T (p.Ser507Leu)	CFHR4 (S260L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682703	NM_001201550.3(CFHR4):c.1612T>C (p.Tyr538His)	CFHR4 (Y291H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380410	NM_001201550.3(CFHR4):c.1626del (p.Asp544fs)	CFHR4 (D297fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3143813	NM_001201550.3(CFHR4):c.1652A>C (p.Lys551Thr)	CFHR4 (K551T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 20