ClinVar for MedGen (Select 434347) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876852	NM_000186.4(CFH):c.33G>T (p.Met11Ile)	CFH (M11I)	Single nucleotide variant (missense variant)	Factor H deficiency +5 more	GUncertain significance
Select item 876521	NM_030787.4(CFHR5):c.608-6T>C	CFHR5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876520	NM_030787.4(CFHR5):c.576T>G (p.Phe192Leu)	CFHR5 (F192L)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GUncertain significance
Select item 876519	NM_030787.4(CFHR5):c.508G>A (p.Val170Met)	CFHR5 (V170M)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 876518	NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn)	CFHR5 (K144N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 876153	NM_000186.4(CFH):c.2596+8G>T	CFH	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 876029	NM_000186.4(CFH):c.1451C>T (p.Ala484Val)	CFH (A484V)	Single nucleotide variant (missense variant)	Basal laminar drusen +3 more	GUncertain significance
Select item 875964	NM_000186.4(CFH):c.907C>T (p.Arg303Trp)	CFH (R303W)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 875858	NM_000186.4(CFH):c.16A>G (p.Lys6Glu)	CFH (K6E)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 875857	NM_000186.4(CFH):c.7C>G (p.Leu3Val)	CFH (L3V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 875562	NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu)	CFHR5 (G471E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875561	NM_030787.4(CFHR5):c.1377T>C (p.Asp459=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 875560	NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp)	CFHR5 (N457D)	Single nucleotide variant (missense variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 875559	NM_030787.4(CFHR5):c.1289T>C (p.Val430Ala)	CFHR5 (V430A)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 875558	NM_030787.4(CFHR5):c.1168C>G (p.Pro390Ala)	CFHR5 (P390A)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 875557	NM_030787.4(CFHR5):c.1166G>T (p.Cys389Phe)	CFHR5 (C389F)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 875505	NM_030787.4(CFHR5):c.430+10A>G	CFHR5	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 875504	NM_030787.4(CFHR5):c.253A>G (p.Arg85Gly)	CFHR5 (R85G)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 875390	NM_000186.4(CFH):c.3156C>T (p.Pro1052=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +3 more	GConflicting classifications of pathogenicity
Select item 875337	NM_000186.4(CFH):c.3134-5T>C	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 875243	NM_000186.4(CFH):c.2763T>C (p.Ser921=)	CFH	Single nucleotide variant (synonymous variant)	Basal laminar drusen +3 more	GUncertain significance
Select item 875193	NM_000186.4(CFH):c.2424A>G (p.Ile808Met)	CFH (I808M)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 875133	NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)	CFH (R662G)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +3 more	GUncertain significance
Select item 875087	NM_000186.4(CFH):c.1418C>T (p.Ala473Val)	CFH (A473V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 875038	NM_000186.4(CFH):c.879G>A (p.Gln293=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +3 more	GConflicting classifications of pathogenicity
Select item 874979	NM_000186.4(CFH):c.245-15T>C	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 874671	NM_030787.4(CFHR5):c.*974T>C	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 874670	NM_030787.4(CFHR5):c.*969T>A	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GBenign
Select item 874669	NM_030787.4(CFHR5):c.*930G>A	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 874625	NM_030787.4(CFHR5):c.1050T>C (p.Asn350=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 874581	NM_030787.4(CFHR5):c.178G>C (p.Val60Leu)	CFHR5 (V60L)	Single nucleotide variant (missense variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 874580	NM_030787.4(CFHR5):c.76C>T (p.Pro26Ser)	CFHR5 (P26S)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 874522	NM_000186.4(CFH):c.3291G>A (p.Thr1097=)	CFH	Single nucleotide variant (synonymous variant)	Basal laminar drusen +3 more	GUncertain significance
Select item 874382	NM_000186.4(CFH):c.2956+13G>A	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 874381	NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)	CFH (P982S)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +3 more	GConflicting classifications of pathogenicity
Select item 874264	NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)	CFH (D772N)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +3 more	GUncertain significance
Select item 874263	NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)	CFH (I760L)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 874052	NM_000186.4(CFH):c.172T>G (p.Ser58Ala)	CFH (S58A)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GConflicting classifications of pathogenicity
Select item 873699	NM_030787.4(CFHR5):c.*860A>C	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 873698	NM_030787.4(CFHR5):c.*654G>C	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 873697	NM_030787.4(CFHR5):c.*518A>G	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 873628	NM_030787.4(CFHR5):c.689A>G (p.Asn230Ser)	CFHR5 (N230S)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 873627	NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr)	CFHR5 (I222T)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GUncertain significance
Select item 873626	NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	CFHR5 (N216Y)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 873579	NM_000186.4(CFH):c.*127G>T	CFH	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 4 +3 more	GUncertain significance
Select item 789701	NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)	CFHR5 (C568*)	Single nucleotide variant (nonsense)	Kidney disorder +4 more	GConflicting classifications of pathogenicity
Select item 775635	NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	CFHR5 (P46S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 756683	NM_030787.4(CFHR5):c.970+2T>G	CFHR5	Single nucleotide variant (splice donor variant)	CFHR5 deficiency +2 more	GBenign/Likely benign
Select item 717499	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	CFHR5 (M514R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 716750	NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser)	CFHR5 (R385S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 713772	NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 632094	NM_030787.4(CFHR5):c.1663C>T (p.Arg555Ter)	CFHR5 (R555*)	Single nucleotide variant (nonsense)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 632093	NM_030787.4(CFHR5):c.1225del (p.Asp409fs)	CFHR5 (D409fs)	Deletion (frameshift variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 632092	NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter)	CFHR5 (Q399*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 625915	NM_000186.4(CFH):c.481G>T (p.Ala161Ser)	CFH (A161S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 599457	NM_030787.4(CFHR5):c.254-5C>T	CFHR5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 598661	NM_000186.4(CFH):c.3133+4C>G	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 523049	NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter)	CFHR5 (C331*)	Single nucleotide variant (nonsense)	CFHR5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 451521	NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)	CFH (A1010T)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 402533	NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)	CFHR5 (R356H)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
Select item 377177	NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)	CFHR5 (G278S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 294564	NM_030787.4(CFHR5):c.*966G>A	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294563	NM_030787.4(CFHR5):c.*866G>A	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294562	NM_030787.4(CFHR5):c.*802T>G	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GBenign
Select item 294561	NM_030787.4(CFHR5):c.*745C>A	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294560	NM_030787.4(CFHR5):c.*741T>G	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GBenign
Select item 294559	NM_030787.4(CFHR5):c.*619G>A	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294558	NM_030787.4(CFHR5):c.*502C>T	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294556	NM_030787.4(CFHR5):c.*397C>G	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GBenign
Select item 294555	NM_030787.4(CFHR5):c.*362A>G	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294554	NM_030787.4(CFHR5):c.*324T>C	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294553	NM_030787.4(CFHR5):c.*237T>C	CFHR5	Single nucleotide variant (3 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294552	NM_030787.4(CFHR5):c.1641G>A (p.Ala547=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294551	NM_030787.4(CFHR5):c.1586T>G (p.Leu529Arg)	CFHR5 (L529R)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GBenign
Select item 294550	NM_030787.4(CFHR5):c.1560G>A (p.Gln520=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294549	NM_030787.4(CFHR5):c.1350G>A (p.Gly450=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GConflicting classifications of pathogenicity
Select item 294548	NM_030787.4(CFHR5):c.903T>C (p.Tyr301=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GConflicting classifications of pathogenicity
Select item 294547	NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	CFHR5 (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 294546	NM_030787.4(CFHR5):c.741G>T (p.Lys247Asn)	CFHR5 (K247N)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294545	NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)	CFHR5 (N216I)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 294544	NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser)	CFHR5 (N216S)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GConflicting classifications of pathogenicity
Select item 294543	NM_030787.4(CFHR5):c.608-3T>A	CFHR5	Single nucleotide variant (intron variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 294542	NM_030787.4(CFHR5):c.507C>T (p.Asp169=)	CFHR5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 294540	NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu)	CFHR5 (G145E)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign
Select item 294539	NM_030787.4(CFHR5):c.429T>C (p.Thr143=)	CFHR5	Single nucleotide variant (synonymous variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 294538	NM_030787.4(CFHR5):c.384G>T (p.Ser128=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 294537	NM_030787.4(CFHR5):c.330A>C (p.Val110=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 294536	NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	CFHR5 (V110A)	Single nucleotide variant (missense variant)	CFHR5 deficiency +3 more	GBenign/Likely benign
Select item 294535	NM_030787.4(CFHR5):c.254-8T>G	CFHR5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 294534	NM_030787.4(CFHR5):c.243G>A (p.Pro81=)	CFHR5	Single nucleotide variant (synonymous variant)	CFHR5 deficiency +2 more	GBenign/Likely benign
Select item 294533	NM_030787.4(CFHR5):c.120C>A (p.Asn40Lys)	CFHR5 (N40K)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294532	NM_030787.4(CFHR5):c.51G>A (p.Gly17=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	GUncertain significance
Select item 294531	NM_030787.4(CFHR5):c.-20T>C	CFHR5	Single nucleotide variant (5 prime UTR variant)	CFHR5 deficiency +3 more	GBenign
Select item 294529	NM_000186.4(CFH):c.*178T>A	CFH	Single nucleotide variant (3 prime UTR variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GBenign
Select item 294528	NM_000186.4(CFH):c.*98C>T	CFH	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 294527	NM_000186.4(CFH):c.*14G>A	CFH	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 4 +3 more	GUncertain significance
Select item 294525	NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu)	CFH (Q1143E)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GBenign
Select item 294524	NM_000186.4(CFH):c.3310+12T>C	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +3 more	GConflicting classifications of pathogenicity
Select item 294523	NM_000186.4(CFH):c.3207T>C (p.Ser1069=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +5 more	GBenign/Likely benign
Select item 294522	NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)	CFH (V1060L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign

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