9054[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 1236960	NM_021100.5(NFS1):c.*260C>A	NFS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1317877	NM_021100.5(NFS1):c.*247A>G	NFS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1289302	NM_021100.5(NFS1):c.*193A>G	NFS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1395310	NM_021100.5(NFS1):c.1358A>G (p.Lys453Arg)	NFS1 (K402R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1315743	NM_021100.5(NFS1):c.1352G>A (p.Ser451Asn)	NFS1 (S400N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2269363	NM_021100.5(NFS1):c.1339A>G (p.Ile447Val)	NFS1 (I396V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1905732	NM_021100.5(NFS1):c.1317C>G (p.Leu439=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896767	NM_021100.5(NFS1):c.1311-16C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676162	NM_021100.5(NFS1):c.1311-56T>G	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673743	NM_021100.5(NFS1):c.1311-188C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671485	NM_021100.5(NFS1):c.1310+257C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269617	NM_021100.5(NFS1):c.1310+253G>A	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515012	NM_021100.5(NFS1):c.1310+11T>G	NFS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2078030	NM_021100.5(NFS1):c.1310+9A>G	NFS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1352101	NM_021100.5(NFS1):c.1310+5A>G	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171344	NM_021100.5(NFS1):c.1295G>A (p.Arg432His)	NFS1 (R381H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 510544	NM_021100.5(NFS1):c.1221-19C>T	NFS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1316324	NM_021100.5(NFS1):c.1221-48del	NFS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1316339	NM_021100.5(NFS1):c.1221-114A>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317541	NM_021100.5(NFS1):c.1221-155T>C	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671484	NM_021100.5(NFS1):c.1221-214A>G	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671483	NM_021100.5(NFS1):c.1220+292T>C	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673742	NM_021100.5(NFS1):c.1220+240G>A	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676831	NM_021100.5(NFS1):c.1220+63C>G	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2253292	NM_021100.5(NFS1):c.1216A>G (p.Ile406Val)	NFS1 (I406V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 388268	NM_021100.5(NFS1):c.1201T>C (p.Leu401=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069285	NM_021100.5(NFS1):c.1137-3C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 681134	NM_021100.5(NFS1):c.1137-16G>C	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 671467	NM_021100.5(NFS1):c.1136+261T>G	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671465	NM_021100.5(NFS1):c.1136+252dup	NFS1	Duplication (intron variant)	not provided	GBenign
Select item 506319	NM_021100.5(NFS1):c.1136+11C>T	NFS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2125207	NM_021100.5(NFS1):c.1111A>C (p.Lys371Gln)	NFS1 (K320Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2216316	NM_021100.5(NFS1):c.1079A>G (p.Tyr360Cys)	NFS1 (Y309C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1360977	NM_021100.5(NFS1):c.1060A>G (p.Ile354Val)	NFS1 (I354V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513500	NM_021100.5(NFS1):c.1055-12T>G	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1905505	NM_021100.5(NFS1):c.1055-20A>G	NFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 384040	NM_021100.5(NFS1):c.1053C>T (p.Pro351=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2244233	NM_021100.5(NFS1):c.1030G>C (p.Gly344Arg)	NFS1 (G344R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511010	NM_021100.5(NFS1):c.983G>A (p.Arg328Gln)	NFS1 (R277Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2187271	NM_021100.5(NFS1):c.982C>T (p.Arg328Trp)	NFS1 (R277W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2652286	NM_021100.5(NFS1):c.975G>A (p.Leu325=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1398782	NM_021100.5(NFS1):c.950A>G (p.Tyr317Cys)	NFS1 (Y266C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2978961	NM_021100.5(NFS1):c.949-5C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512458	NM_021100.5(NFS1):c.948+20C>T	NFS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1407818	NM_021100.5(NFS1):c.948+1G>T	NFS1	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation deficiency 52 +1 more	GUncertain significance
Select item 2249847	NM_021100.5(NFS1):c.944T>C (p.Met315Thr)	NFS1 (M264T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1980123	NM_021100.5(NFS1):c.855G>A (p.Gly285=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1932537	NM_021100.5(NFS1):c.823C>T (p.Arg275Cys)	NFS1 (R224C +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 52 +1 more	GUncertain significance
Select item 387147	NM_021100.5(NFS1):c.822C>T (p.Pro274=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2265436	NM_021100.5(NFS1):c.818G>A (p.Arg273Gln)	NFS1 (R273Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210858	NM_021100.5(NFS1):c.811C>T (p.Arg271Cys)	NFS1 (R220C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068556	NM_021100.5(NFS1):c.810C>T (p.Ile270=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 517995	NM_021100.5(NFS1):c.791-9G>T	NFS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 513610	NM_021100.5(NFS1):c.790+7G>T	NFS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 514797	NM_021100.5(NFS1):c.780C>T (p.Tyr260=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2716702	NM_021100.5(NFS1):c.663T>A (p.Ile221=)	NFS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1228973	NM_021100.5(NFS1):c.656-84_656-82dup	NFS1	Duplication (intron variant)	not provided	GBenign
Select item 1318095	NM_021100.5(NFS1):c.656-199C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671457	NM_021100.5(NFS1):c.655+263T>C	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290805	NM_021100.5(NFS1):c.655+233T>C	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676161	NM_021100.5(NFS1):c.655+90_655+92del	NFS1	Deletion (intron variant)	not provided	GBenign
Select item 2021100	NM_021100.5(NFS1):c.648A>C (p.Ala216=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911610	NM_021100.5(NFS1):c.613G>A (p.Val205Met)	NFS1 (V154M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2099474	NM_021100.5(NFS1):c.600G>A (p.Val200=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363470	NM_021100.5(NFS1):c.593G>T (p.Ser198Ile)	NFS1 (S198I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1961181	NM_021100.5(NFS1):c.571G>T (p.Ala191Ser)	NFS1 (A191S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1895855	NM_021100.5(NFS1):c.561+19A>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1364779	NM_021100.5(NFS1):c.521C>T (p.Thr174Ile)	NFS1 (T174I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1292437	NM_021100.5(NFS1):c.437A>G (p.Lys146Arg)	NFS1 (K146R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2069095	NM_021100.5(NFS1):c.419G>A (p.Arg140Gln)	NFS1 (R140Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1318046	NM_021100.5(NFS1):c.409-39G>C	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676160	NM_021100.5(NFS1):c.409-120del	NFS1	Deletion (intron variant)	not provided	GBenign
Select item 2652287	NM_021100.5(NFS1):c.408+1573C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976805	NM_021100.5(NFS1):c.408+16C>A	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262540	NM_021100.5(NFS1):c.325-171G>T	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296335	NM_021100.5(NFS1):c.325-217dup	NFS1	Duplication (intron variant)	not provided	GBenign
Select item 1317887	NM_021100.5(NFS1):c.325-236A>G	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296358	NM_021100.5(NFS1):c.324+257C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671453	NM_021100.5(NFS1):c.324+164G>A	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676159	NM_021100.5(NFS1):c.324+84A>T	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035185	NM_021100.5(NFS1):c.324+9A>C	NFS1	Single nucleotide variant (intron variant)	NFS1-related condition	GLikely benign
Select item 513586	NM_021100.5(NFS1):c.318T>C (p.Ala106=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1923372	NM_021100.5(NFS1):c.299A>C (p.Glu100Ala)	NFS1 (E100A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3047048	NM_021100.5(NFS1):c.282T>A (p.Ala94=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	NFS1-related condition	GLikely benign
Select item 681956	NM_021100.5(NFS1):c.273G>T (p.Arg91=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 388885	NM_021100.5(NFS1):c.222T>A (p.Leu74=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1171019	NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)	NFS1 (R72Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1640629	NM_021100.5(NFS1):c.208-12T>G	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674585	NM_021100.5(NFS1):c.208-71G>C	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238866	NM_021100.5(NFS1):c.207+152C>A	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676238	NM_021100.5(NFS1):c.207+88T>A	NFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316283	NM_021100.5(NFS1):c.207+85A>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669175	NM_021100.5(NFS1):c.207+20C>T	NFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385012	NM_021100.5(NFS1):c.166C>T (p.Leu56=)	NFS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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