10877[geneid] - 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 221686	GRCh38/hg38 1q31.3(chr1:196743467-196912909)x1	CFH, CFHR4 +4 more	Copy number loss	Premature ovarian failure	GBenign
Select item 147003	GRCh38/hg38 1q31.3(chr1:196769797-196929505)x1	CFHR1, CFHR3 +3 more	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 154628	GRCh38/hg38 1q31.3(chr1:196819082-196914268)x1	CFHR1, CFHR4 +2 more	Copy number loss	See cases	GBenign
Select item 146603	GRCh38/hg38 1q31.3(chr1:196827974-196914268)x3	CFHR1, CFHR4 +2 more	Copy number gain	See cases	GBenign
Select item 147068	GRCh38/hg38 1q31.3(chr1:196830143-196922509)x1	CFHR1, CFHR4 +2 more	Copy number loss	See cases	GBenign
Select item 156765	NM_001201551.1(CFHR4):c.-33981_58+5231del	CFHR4, LOC126805964	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 156764	Single allele	LOC126805964, CFHR4 +1 more	Deletion	Large for gestational age	Gnot provided
Select item 156763	Single allele	CFHR4, LOC122149335 +1 more	Deletion	Small for gestational age	Gnot provided
Select item 147079	GRCh38/hg38 1q31.3(chr1:196856035-196922509)x1	CFHR4, LOC122149335 +1 more	Copy number loss	See cases	GBenign
Select item 3237406	NM_001201550.3(CFHR4):c.41C>A (p.Ser14Tyr)	CFHR4 (S14Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1336292	NM_001201550.3(CFHR4):c.62T>C (p.Val21Ala)	CFHR4 (V20A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2490129	NM_001201550.3(CFHR4):c.68C>T (p.Pro23Leu)	CFHR4 (P23L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336119	NM_001201550.3(CFHR4):c.103T>C (p.Tyr35His)	CFHR4 (Y34H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1712440	NM_001201550.3(CFHR4):c.118C>T (p.Arg40Cys)	CFHR4 (R39C +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 827994	NM_001201550.3(CFHR4):c.119G>A (p.Arg40His)	CFHR4 (R39H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1712456	NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)	CFHR4 (Y42F +1 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 1336293	NM_001201550.3(CFHR4):c.159C>T (p.Ser53=)	CFHR4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 806298	NM_001201550.3(CFHR4):c.185C>T (p.Thr62Ile)	CFHR4 (T62I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2503967	NM_001201550.3(CFHR4):c.204G>A (p.Trp68Ter)	CFHR4 (W67* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 788946	NM_001201550.3(CFHR4):c.228T>C (p.Asp76=)	CFHR4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1336563	NM_001201550.3(CFHR4):c.243G>A (p.Thr81=)	CFHR4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1336564	NM_001201550.3(CFHR4):c.277G>A (p.Val93Ile)	CFHR4 (V92I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2340659	NM_001201550.3(CFHR4):c.314C>G (p.Ser105Cys)	CFHR4 (S104C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336294	NM_001201550.3(CFHR4):c.348T>A (p.Asn116Lys)	CFHR4 (N115K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2260983	NM_001201550.3(CFHR4):c.371C>A (p.Ala124Glu)	CFHR4 (A124E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1232884	NM_001201550.3(CFHR4):c.375G>T (p.Glu125Asp)	CFHR4 (E124D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3143815	NM_001201550.3(CFHR4):c.413G>T (p.Gly138Val)	CFHR4 (G137V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2682529	NM_001201550.3(CFHR4):c.440-11T>C	CFHR4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3266607	NM_001201550.3(CFHR4):c.445T>C (p.Cys149Arg)	CFHR4 (C149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 736160	NM_001201550.3(CFHR4):c.561C>T (p.Thr187=)	CFHR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2350346	NM_001201550.3(CFHR4):c.596C>T (p.Ser199Phe)	CFHR4 (S198F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3143816	NM_001201550.3(CFHR4):c.612C>G (p.Cys204Trp)	CFHR4 (C203W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266601	NM_001201550.3(CFHR4):c.613T>C (p.Tyr205His)	CFHR4 (Y205H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343620	NM_001201550.3(CFHR4):c.614A>G (p.Tyr205Cys)	CFHR4 (Y204C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1285227	NM_001201550.3(CFHR4):c.617-12A>C	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2224911	NM_001201550.3(CFHR4):c.617A>G (p.Asn206Ser)	CFHR4 (N205S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1252690	NM_001201550.3(CFHR4):c.629A>G (p.Asn210Ser)	CFHR4 (N209S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2339870	NM_001201550.3(CFHR4):c.654C>A (p.Ser218Arg)	CFHR4 (S218R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339267	NM_001201550.3(CFHR4):c.664A>C (p.Thr222Pro)	CFHR4 (T221P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143817	NM_001201550.3(CFHR4):c.668C>T (p.Thr223Met)	CFHR4 (T222M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266608	NM_001201550.3(CFHR4):c.697T>C (p.Trp233Arg)	CFHR4 (W232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336288	NM_001201550.3(CFHR4):c.699G>C (p.Trp233Cys)	CFHR4 (W232C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2357650	NM_001201550.3(CFHR4):c.700T>A (p.Ser234Thr)	CFHR4 (S233T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516488	NM_001201550.3(CFHR4):c.713A>C (p.Tyr238Ser)	CFHR4 (Y238S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143819	NM_001201550.3(CFHR4):c.743G>T (p.Gly248Val)	CFHR4 (G248V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611054	NM_001201550.3(CFHR4):c.766A>C (p.Asn256His)	CFHR4 (N255H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336124	NM_001201550.3(CFHR4):c.774C>G (p.Asp258Glu)	CFHR4 (D257E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1177742	NM_001201550.3(CFHR4):c.799+251C>T	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287999	NM_001201550.3(CFHR4):c.800-116del	CFHR4	Deletion (intron variant)	not provided	GBenign
Select item 1804720	NM_001201550.3(CFHR4):c.800-2A>G	CFHR4	Single nucleotide variant (splice acceptor variant +1 more)	not specified	GUncertain significance
Select item 3266606	NM_001201550.3(CFHR4):c.806A>C (p.Lys269Thr)	CFHR4 (K268T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358433	NM_001201550.3(CFHR4):c.857C>T (p.Thr286Met)	CFHR4 (T286M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214315	NM_001201550.3(CFHR4):c.859C>T (p.Arg287Cys)	CFHR4 (R287C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277433	NM_001201550.3(CFHR4):c.912C>A (p.Asp304Glu)	CFHR4 (D304E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209375	NM_001201550.3(CFHR4):c.929C>T (p.Pro310Leu)	CFHR4 (P309L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143820	NM_001201550.3(CFHR4):c.964C>A (p.Gln322Lys)	CFHR4 (Q322K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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	GLikely benign
Select item 1237579	NM_001201550.3(CFHR4):c.998-270G>C	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3143821	NM_001201550.3(CFHR4):c.998G>A (p.Arg333Lys)	CFHR4 (R86K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525279	NM_001201550.3(CFHR4):c.1019T>C (p.Ile340Thr)	CFHR4 (I339T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288621	NM_001201550.3(CFHR4):c.1055C>T (p.Ser352Phe)	CFHR4 (S351F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266603	NM_001201550.3(CFHR4):c.1072A>G (p.Lys358Glu)	CFHR4 (K357E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332464	NM_001201550.3(CFHR4):c.1078A>G (p.Ile360Val)	CFHR4 (I113V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266604	NM_001201550.3(CFHR4):c.1079T>C (p.Ile360Thr)	CFHR4 (I359T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224246	NM_001201550.3(CFHR4):c.1109C>G (p.Thr370Arg)	CFHR4 (T123R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336353	NM_001201550.3(CFHR4):c.1131T>A (p.Gly377=)	CFHR4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 626077	NM_001201550.3(CFHR4):c.1153G>A (p.Gly385Arg)	CFHR4 (G385R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726937	NM_001201550.3(CFHR4):c.1166A>T (p.Gln389Leu)	CFHR4 (Q142L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2455794	NM_001201550.3(CFHR4):c.1168C>A (p.Pro390Thr)	CFHR4 (P390T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258081	NM_001201550.3(CFHR4):c.1180+292A>G	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274500	NM_001201550.3(CFHR4):c.1181-253G>A	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235451	NM_001201550.3(CFHR4):c.1181-156T>A	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2340261	NM_001201550.3(CFHR4):c.1189G>A (p.Asp397Asn)	CFHR4 (D150N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637649	NM_001201550.3(CFHR4):c.1206G>A (p.Glu402=)	CFHR4	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 782977	NM_001201550.3(CFHR4):c.1234C>A (p.Arg412=)	CFHR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753176	NM_001201550.3(CFHR4):c.1235G>A (p.Arg412Gln)	CFHR4 (R165Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1268960	NM_001201550.3(CFHR4):c.1358-132dup	CFHR4	Duplication (intron variant)	not provided	GBenign
Select item 1179474	NM_001201550.3(CFHR4):c.1358-132del	CFHR4	Deletion (intron variant)	not provided	GBenign
Select item 1250102	NM_001201550.3(CFHR4):c.1358-127G>A	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2521734	NM_001201550.3(CFHR4):c.1367A>G (p.Glu456Gly)	CFHR4 (E209G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143809	NM_001201550.3(CFHR4):c.1382C>T (p.Pro461Leu)	CFHR4 (P460L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522903	NM_001201550.3(CFHR4):c.1399G>A (p.Gly467Ser)	CFHR4 (G466S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637650	NM_001201550.3(CFHR4):c.1471T>G (p.Tyr491Asp)	CFHR4 (Y244D +2 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 769252	NM_001201550.3(CFHR4):c.1530A>T (p.Pro510=)	CFHR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268022	NM_001201550.3(CFHR4):c.1541-159T>G	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267453	NM_001201550.3(CFHR4):c.1541-66G>A	CFHR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2398239	NM_001201550.3(CFHR4):c.1581C>A (p.Asn527Lys)	CFHR4 (N526K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605651	NM_001201550.3(CFHR4):c.1584A>G (p.Ile528Met)	CFHR4 (I281M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143810	NM_001201550.3(CFHR4):c.1598A>G (p.Lys533Arg)	CFHR4 (K533R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672285	NM_001201550.3(CFHR4):c.1599A>C (p.Lys533Asn)	CFHR4 (K286N +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign

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