ClinVar for Gene (Select 2395) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 154

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3038546	NM_000144.5(FXN):c.531C>T (p.His177=)	FXN (T180M)	Single nucleotide variant (synonymous variant +1 more)	FXN-related condition	GLikely benign
Select item 2684199	NM_000144.5(FXN):c.623A>G (p.Lys208Arg)	FXN (K208R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684198	NM_000144.5(FXN):c.125T>G (p.Leu42Arg)	FXN, LOC130001862 (L42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659239	NM_000144.5(FXN):c.429T>C (p.Tyr143=)	FXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659238	NM_000144.5(FXN):c.105A>C (p.Pro35=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611627	NM_000144.5(FXN):c.616T>A (p.Ser206Thr)	FXN (S206T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605294	NM_000144.5(FXN):c.104C>T (p.Pro35Leu)	FXN, LOC130001862 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579062	NM_000144.5(FXN):c.357G>A (p.Thr119=)	FXN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541086	NM_000144.5(FXN):c.76C>T (p.Arg26Trp)	FXN, LOC130001862 (R26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517329	NM_000144.5(FXN):c.200A>G (p.Asn67Ser)	FXN (N67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515732	NM_000144.5(FXN):c.112G>A (p.Gly38Ser)	FXN, LOC130001862 (G38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2500463	NM_000144.5(FXN):c.404A>G (p.Lys135Arg)	FXN (K135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475754	NM_000144.5(FXN):c.14G>C (p.Gly5Ala)	LOC130001862, FXN (G5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461756	NM_000144.5(FXN):c.412G>A (p.Gly138Arg)	FXN (G138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394972	NM_000144.5(FXN):c.178C>T (p.Arg60Cys)	FXN (R60C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300251	NM_000144.5(FXN):c.46C>T (p.Pro16Ser)	FXN, LOC130001862 (P16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275885	NM_000144.5(FXN):c.41C>T (p.Ala14Val)	FXN, LOC130001862 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241396	NM_000144.5(FXN):c.152C>G (p.Thr51Arg)	FXN, LOC130001862 (T51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808288	GRCh37/hg19 9q21.11(chr9:71496157-71893866)x1	FXN, PIP5K1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 1807211	NM_000144.5(FXN):c.483-7C>T	FXN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807205	NM_000144.5(FXN):c.169del (p.Ser57fs)	FXN (S57fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807196	NM_000144.5(FXN):c.185T>C (p.Leu62Pro)	FXN (L62P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807189	NM_000144.5(FXN):c.227T>G (p.Met76Arg)	FXN (M76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807182	NM_000144.5(FXN):c.97T>G (p.Leu33Val)	FXN, LOC130001862 (L33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1770332	NM_000144.5(FXN):c.133G>A (p.Asp45Asn)	FXN, LOC130001862 (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1748562	NM_000144.5(FXN):c.55G>A (p.Ala19Thr)	LOC130001862, FXN (A19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742441	NM_000144.5(FXN):c.468A>G (p.Leu156=)	FXN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GBenign
Select item 1731615	NM_000144.5(FXN):c.345C>T (p.Asp115=)	FXN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1293448	NM_000144.5(FXN):c.384+198G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293288	NC_000009.12:g.69099777C>T	FXN	Single nucleotide variant	not provided	GBenign
Select item 1293283	NM_000144.5(FXN):c.384+21T>C	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293281	NM_000144.5(FXN):c.166-185G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269638	NM_000144.5(FXN):c.384+250_384+251insGG	FXN	Insertion (intron variant)	not provided	GBenign
Select item 1264065	NM_000144.5(FXN):c.384+251_384+252insTG	FXN	Insertion (intron variant)	not provided	GBenign
Select item 1256840	NM_000144.5(FXN):c.264-70G>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256271	NM_000144.5(FXN):c.467T>C (p.Leu156Pro)	FXN (L156P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1256268	NM_000144.5(FXN):c.427T>C (p.Tyr143His)	FXN (Y143H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256265	NM_000144.5(FXN):c.356C>T (p.Thr119Met)	FXN (T119M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256262	NM_000144.5(FXN):c.171G>C (p.Ser57=)	FXN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256259	NM_000144.5(FXN):c.128G>C (p.Arg43Pro)	FXN, LOC130001862 (R43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254976	NM_000144.5(FXN):c.384+255A>G	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250027	NM_000144.5(FXN):c.483-88C>T	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241486	NM_000144.5(FXN):c.384+251_384+252insTGGATG	FXN	Insertion (intron variant)	not provided	GBenign
Select item 1237290	NC_000009.12:g.69100224C>A	FXN	Single nucleotide variant	not provided	GBenign
Select item 1235527	NM_000144.5(FXN):c.384+159C>A	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225970	NC_000009.12:g.69099654A>G	FXN	Single nucleotide variant	not provided	GBenign
Select item 1225228	NM_000144.5(FXN):c.384+251A>G	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223924	NM_000144.5(FXN):c.483-175T>G	FXN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222153	NM_000144.5(FXN):c.*246C>T	FXN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180420	NC_000009.12:g.69099647G>A	FXN	Single nucleotide variant	not provided	GBenign
Select item 1065563	NM_000144.5(FXN):c.165+1338AAG[180]	FXN, LOC108510657	Microsatellite (intron variant)	Friedreich ataxia 1	GPathogenic
Select item 1064596	NM_000144.5(FXN):c.166-5T>G	FXN	Single nucleotide variant (intron variant)	Friedreich ataxia 1	GLikely pathogenic
Select item 1048603	NM_000144.5(FXN):c.493C>T (p.Arg165Cys)	FXN (R165C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth-like disease +1 more	GConflicting classifications of pathogenicity
Select item 1032212	NM_000144.5(FXN):c.146C>A (p.Thr49Asn)	FXN, LOC130001862 (T49N)	Single nucleotide variant (missense variant)	Friedreich ataxia 1 +1 more	GUncertain significance
Select item 994884	NM_000144.5(FXN):c.-9C>G	FXN, LOC130001862	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 994883	NM_000144.5(FXN):c.81C>T (p.Val27=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 994882	NM_000144.5(FXN):c.70C>T (p.Leu24Phe)	FXN, LOC130001862 (L24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 810982	NM_000144.5(FXN):c.447G>A (p.Thr149=)	FXN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 810383	NM_000144.5(FXN):c.299A>C (p.Glu100Ala)	FXN (E100A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804824	NM_000144.5(FXN):c.68C>T (p.Thr23Ile)	FXN, LOC130001862 (T23I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 804823	NM_000144.5(FXN):c.498T>G (p.Tyr166Ter)	FXN (M169R +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 804822	NM_000144.5(FXN):c.472T>G (p.Ser158Ala)	FXN (S158A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804821	NM_000144.5(FXN):c.41C>A (p.Ala14Glu)	FXN, LOC130001862 (A14E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 804820	NM_000144.5(FXN):c.384+8T>C	FXN	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 804819	NM_000144.5(FXN):c.323_324delinsTT (p.Glu108Val)	FXN (E108V)	Indel (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 804818	NM_000144.5(FXN):c.163G>A (p.Ala55Thr)	FXN, LOC130001862 (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804817	NM_000144.5(FXN):c.131C>A (p.Thr44Asn)	FXN, LOC130001862 (T44N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 804267	NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG	FXN	Indel	Friedreich ataxia 1	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 688053	GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 687043	GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3	FXN, PABIR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686833	GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686082	GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685355	GRCh37/hg19 9q21.11(chr9:71458419-71776105)x3	FXN, PIP5K1B +2 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 618139	NM_000144.5(FXN):c.34C>G (p.Leu12Val)	FXN, LOC130001862 (L12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 585891	NM_000144.5(FXN):c.317T>C (p.Leu106Ser)	FXN (L106S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 585890	NM_000144.5(FXN):c.290G>A (p.Arg97Lys)	FXN (R97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585889	NM_000144.5(FXN):c.285T>A (p.Tyr95Ter)	FXN (Y95*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 585888	NM_000144.5(FXN):c.221A>G (p.Tyr74Cys)	FXN (Y74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585887	NM_000144.5(FXN):c.165+2_165+3insTT	FXN, LOC130001862	Insertion (splice donor variant)	not provided	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 561195	NG_008845.2:g.6725GAA[(200_900)]	FXN, LOC108510657	Microsatellite	Friedreich ataxia +1 more	GPathogenic
Select item 560069	Single allele	PRKACG, TJP2 +2 more	Duplication	not provided	GUncertain significance
Select item 549677	NM_000144.5(FXN):c.438C>G (p.Asn146Lys)	FXN (N146K)	Single nucleotide variant (missense variant)	Friedreich ataxia 1	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 518668	NM_000144.5(FXN):c.171G>A (p.Ser57=)	FXN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 518531	NM_000144.5(FXN):c.97T>C (p.Leu33=)	FXN, LOC130001862	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 447363	NM_000144.5(FXN):c.483-2A>G	FXN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

<< First< Prev

Page of 2