"Ambry Genetics"[submitter] AND "CFHR1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143798	NM_002113.3(CFHR1):c.139A>G (p.Thr47Ala)	CFHR1 (T47A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397784	NM_002113.3(CFHR1):c.158A>C (p.Tyr53Ser)	CFHR1 (Y53S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143799	NM_002113.3(CFHR1):c.201G>T (p.Trp67Cys)	CFHR1 (W50C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303512	NM_002113.3(CFHR1):c.202A>G (p.Thr68Ala)	CFHR1 (T68A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395414	NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)	CFHR1 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2514762	NM_002113.3(CFHR1):c.310C>T (p.His104Tyr)	CFHR1 (H104Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 2335850	NM_002113.3(CFHR1):c.388G>T (p.Val130Leu)	CFHR1 (V130L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465689	NM_002113.3(CFHR1):c.394C>T (p.Arg132Trp)	CFHR1 (R51W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143800	NM_002113.3(CFHR1):c.649G>A (p.Gly217Arg)	CFHR1 (G149R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458000	NM_002113.3(CFHR1):c.766T>C (p.Trp256Arg)	CFHR1 (W175R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397816	NM_002113.3(CFHR1):c.799G>A (p.Val267Ile)	CFHR1 (V267I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397573	NM_002113.3(CFHR1):c.809G>A (p.Arg270Gln)	CFHR1 (R205Q +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266595	NM_002113.3(CFHR1):c.861G>T (p.Lys287Asn)	CFHR1 (K222N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266592	NM_002113.3(CFHR1):c.861G>C (p.Lys287Asn)	CFHR1 (K222N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554326	NM_002113.3(CFHR1):c.889G>A (p.Glu297Lys)	CFHR1 (E280K +7 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 915865	NM_002113.3(CFHR1):c.911A>G (p.Tyr304Cys)	CFHR1 (Y304C +7 more)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GUncertain significance
Select item 2397809	NM_002113.3(CFHR1):c.925C>T (p.Arg309Cys)	CFHR1 (R254C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514782	NM_002113.3(CFHR1):c.955G>A (p.Asp319Asn)	CFHR1 (D238N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance