CFHR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 221377	GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1	CFH, CFHR1 +12 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2500782	NC_000001.11:g.196706898_196873196del	CFH, CFHR1 +4 more	Deletion	Atypical hemolytic-uremic syndrome with I factor anomaly	GPathogenic
Select item 221686	GRCh38/hg38 1q31.3(chr1:196743467-196912909)x1	CFH, CFHR4 +4 more	Copy number loss	Premature ovarian failure	GBenign
Select item 21089	NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del	CFH, CFHR1 +1 more	Deletion	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 5065	NC_000001.10:g.(196722206_?)_(?_196808505)del	CFHR1, CFHR3	Deletion	Age-related macular degeneration +1 more	GPathogenic; risk factor
Select item 147041	GRCh38/hg38 1q31.3(chr1:196769797-196830143)x1	CFHR1, CFHR3	Copy number loss	See cases	GBenign
Select item 147040	GRCh38/hg38 1q31.3(chr1:196769797-196830143)x3	CFHR1, CFHR3	Copy number gain	See cases	GBenign
Select item 147003	GRCh38/hg38 1q31.3(chr1:196769797-196929505)x1	CFHR1, CFHR3 +3 more	Copy number loss	See cases	GBenign
Select item 154776	GRCh38/hg38 1q31.3(chr1:196775791-196830176)x3	CFHR1, CFHR3	Copy number gain	See cases	GLikely benign
Select item 149516	GRCh38/hg38 1q31.3(chr1:196775791-196830176)x1	CFHR1, CFHR3	Copy number loss	See cases	GLikely benign
Select item 154616	GRCh38/hg38 1q31.3(chr1:196776934-196828033)x1	CFHR1, CFHR3	Copy number loss	See cases	GBenign
Select item 147573	GRCh38/hg38 1q31.3(chr1:196776934-196914268)x1	CFHR1, CFHR3 +3 more	Copy number loss	See cases	GBenign
Select item 147555	GRCh38/hg38 1q31.3(chr1:196776934-196828033)x3	CFHR1, CFHR3	Copy number gain	See cases	GBenign
Select item 58538	GRCh38/hg38 1q31.3(chr1:196788148-196827586)x1	CFHR1, CFHR3	Copy number loss	See cases	GPathogenic
Select item 154628	GRCh38/hg38 1q31.3(chr1:196819082-196914268)x1	CFHR1, CFHR4 +2 more	Copy number loss	See cases	GBenign
Select item 1225654	NC_000001.11:g.196819470A>G	CFHR1	Single nucleotide variant	not provided	GBenign
Select item 1290176	NC_000001.11:g.196819471C>T	CFHR1	Single nucleotide variant	not provided	GBenign
Select item 1293906	NC_000001.11:g.196819572A>C	CFHR1	Single nucleotide variant	not provided	GBenign
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 1284207	NM_002113.3(CFHR1):c.58+129C>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245326	NM_002113.3(CFHR1):c.58+168A>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261680	NM_002113.3(CFHR1):c.59-181G>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238527	NM_002113.3(CFHR1):c.59-161G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221226	NM_002113.3(CFHR1):c.59-158_59-157insT	CFHR1	Insertion (intron variant)	not provided	GBenign
Select item 1232483	NM_002113.3(CFHR1):c.59-88C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2682697	NM_002113.3(CFHR1):c.59-14T>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251424	NM_002113.3(CFHR1):c.92G>C (p.Gly31Ala)	CFHR1 (G31A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1163769	NM_002113.3(CFHR1):c.130C>T (p.Gln44Ter)	CFHR1 (Q27* +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1336981	NM_002113.3(CFHR1):c.133G>T (p.Val45Phe)	CFHR1 (V28F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
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 1336493	NM_002113.3(CFHR1):c.195A>C (p.Ser65=)	CFHR1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +1 more	GUncertain significance
Select item 1163770	NM_002113.3(CFHR1):c.217A>G (p.Thr73Ala)	CFHR1 (T56A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283579	NM_002113.3(CFHR1):c.253+66G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275229	NM_002113.3(CFHR1):c.253+108G>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278665	NM_002113.3(CFHR1):c.253+213G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258030	NM_002113.3(CFHR1):c.253+217T>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266371	NM_002113.3(CFHR1):c.253+291G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291937	NM_002113.3(CFHR1):c.254-218C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291861	NM_002113.3(CFHR1):c.254-198C>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231683	NM_002113.3(CFHR1):c.254-115C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286467	NM_002113.3(CFHR1):c.254-110A>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429186	NM_002113.3(CFHR1):c.259dup (p.Cys87fs)	CFHR1 (C22fs +5 more)	Duplication (frameshift variant +1 more)	not specified	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 1163771	NM_002113.3(CFHR1):c.427A>G (p.Thr143Ala)	CFHR1 (T126A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1288394	NM_002113.3(CFHR1):c.430+49G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290026	NM_002113.3(CFHR1):c.430+105T>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222259	NM_002113.3(CFHR1):c.430+226C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288671	NM_002113.3(CFHR1):c.431-312_431-311insC	CFHR1	Insertion (intron variant)	not provided	GBenign
Select item 1280546	NM_002113.3(CFHR1):c.431-156T>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146603	GRCh38/hg38 1q31.3(chr1:196827974-196914268)x3	CFHR1, CFHR4 +2 more	Copy number gain	See cases	GBenign
Select item 1241513	NM_002113.3(CFHR1):c.431-77C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2503981	NM_002113.3(CFHR1):c.431-2A>G	CFHR1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3067191	NM_002113.3(CFHR1):c.435T>G (p.Thr145=)	CFHR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1229176	NM_002113.3(CFHR1):c.447T>C (p.Asn149=)	CFHR1	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +1 more	GBenign
Select item 1179673	NM_002113.3(CFHR1):c.469C>T (p.His157Tyr)	CFHR1 (H101Y +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1279612	NM_002113.3(CFHR1):c.475C>G (p.Leu159Val)	CFHR1 (L103V +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1241507	NM_002113.3(CFHR1):c.523G>C (p.Glu175Gln)	CFHR1 (E107Q +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1283250	NM_002113.3(CFHR1):c.588A>G (p.Thr196=)	CFHR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1256796	NM_002113.3(CFHR1):c.607+117T>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639694	NM_002113.3(CFHR1):c.607+123G>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236898	NM_002113.3(CFHR1):c.607+257T>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639695	NM_002113.3(CFHR1):c.607+800G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639696	NM_002113.3(CFHR1):c.608-979T>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 147068	GRCh38/hg38 1q31.3(chr1:196830143-196922509)x1	CFHR1, CFHR4 +2 more	Copy number loss	See cases	GBenign
Select item 1260212	NM_002113.3(CFHR1):c.608-197C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3067205	NM_002113.3(CFHR1):c.608-145A>G	CFHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240725	NM_002113.3(CFHR1):c.608-90T>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1029559	NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn)	CFHR1 (D160N +7 more)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	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 1337131	NM_002113.3(CFHR1):c.652G>A (p.Asp218Asn)	CFHR1 (D137N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581635	NM_002113.3(CFHR1):c.654C>T (p.Asp218=)	CFHR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1242693	NM_002113.3(CFHR1):c.669G>A (p.Pro223=)	CFHR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1287619	NM_002113.3(CFHR1):c.724C>G (p.Gln242Glu)	CFHR1 (Q161E +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 915861	NM_002113.3(CFHR1):c.727C>G (p.Leu243Val)	CFHR1 (L243V +7 more)	Single nucleotide variant (missense variant)	Chronic kidney disease	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 915864	NM_002113.3(CFHR1):c.790+1G>A	CFHR1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1276258	NM_002113.3(CFHR1):c.790+36A>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234608	NM_002113.3(CFHR1):c.790+37G>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289144	NM_002113.3(CFHR1):c.790+139T>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285848	NM_002113.3(CFHR1):c.790+261T>C	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279946	NM_002113.3(CFHR1):c.790+291G>A	CFHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639697	NM_002113.3(CFHR1):c.791-38C>T	CFHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693725	NM_002113.3(CFHR1):c.791-17C>G	CFHR1	Single nucleotide variant (intron variant)	not provided	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 2573485	NM_002113.3(CFHR1):c.835G>A (p.Ala279Thr)	CFHR1 (A198T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1343368	NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser)	CFHR1 (L209S +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1343371	NM_002113.3(CFHR1):c.887C>T (p.Ala296Val)	CFHR1 (A215V +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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