ClinVar for Gene (Select 119559) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317900	NM_213649.2(SFXN4):c.274A>G (p.Ser92Gly)	SFXN4 (S92G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317899	NM_213649.2(SFXN4):c.781G>A (p.Ala261Thr)	SFXN4 (A261T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160976	NM_213649.2(SFXN4):c.971C>T (p.Ser324Phe)	SFXN4 (S324F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160975	NM_213649.2(SFXN4):c.478A>C (p.Lys160Gln)	SFXN4 (K160Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3054918	NM_213649.2(SFXN4):c.-5G>A	LOC130004825, SFXN4	Single nucleotide variant (5 prime UTR variant +1 more)	SFXN4-related disorder	GLikely benign
Select item 3052198	NM_213649.2(SFXN4):c.*3G>A	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	SFXN4-related disorder	GBenign
Select item 3051086	NM_213649.2(SFXN4):c.617-9C>T	SFXN4	Single nucleotide variant (intron variant)	SFXN4-related disorder	GLikely benign
Select item 3023509	NM_213649.2(SFXN4):c.353_354inv (p.Ala118Val)	SFXN4 (A118V)	Inversion (missense variant +2 more)	not provided	GUncertain significance
Select item 2994713	NM_213649.2(SFXN4):c.361-11C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994009	NM_213649.2(SFXN4):c.178-12A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985811	NM_213649.2(SFXN4):c.252+11C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980330	NM_213649.2(SFXN4):c.507G>A (p.Ala169=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972364	NM_213649.2(SFXN4):c.252+18A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964708	NM_213649.2(SFXN4):c.325C>T (p.Arg109Ter)	SFXN4 (R109*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2964581	NM_213649.2(SFXN4):c.732+13A>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888303	NM_213649.2(SFXN4):c.575C>T (p.Thr192Ile)	SFXN4 (T192I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868876	NM_213649.2(SFXN4):c.937-15T>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797181	NM_213649.2(SFXN4):c.538-4C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719348	NM_213649.2(SFXN4):c.243G>A (p.Ala81=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2663461	NM_213649.2(SFXN4):c.377C>T (p.Thr126Met)	SFXN4 (T126M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2536175	NM_213649.2(SFXN4):c.450C>G (p.Ser150Arg)	SFXN4 (S150R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520991	NM_213649.2(SFXN4):c.83A>G (p.Asn28Ser)	LOC130004825, SFXN4 (N28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505055	NM_213649.2(SFXN4):c.818+4A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2488874	NM_213649.2(SFXN4):c.518C>T (p.Ala173Val)	SFXN4 (A173V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488483	NM_213649.2(SFXN4):c.746C>T (p.Thr249Met)	SFXN4 (T249M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2475696	NM_213649.2(SFXN4):c.641A>G (p.Tyr214Cys)	SFXN4 (Y214C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427788	NC_000010.10:g.(?_120905748)_(120905865_?)dup	SFXN4	Duplication	not provided	GLikely pathogenic
Select item 2399626	NM_213649.2(SFXN4):c.347T>C (p.Phe116Ser)	SFXN4 (F116S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380033	NM_213649.2(SFXN4):c.26C>T (p.Thr9Met)	LOC130004825, SFXN4 (T9M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2368178	NM_213649.2(SFXN4):c.64C>T (p.Pro22Ser)	LOC130004825, SFXN4 (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368067	NM_213649.2(SFXN4):c.103G>A (p.Glu35Lys)	LOC130004825, SFXN4 (E35K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2276203	NM_213649.2(SFXN4):c.449G>A (p.Ser150Asn)	SFXN4 (S150N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259488	NM_213649.2(SFXN4):c.359C>T (p.Thr120Met)	SFXN4 (T120M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2182106	NM_213649.2(SFXN4):c.818+2T>A	SFXN4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2179764	NM_213649.2(SFXN4):c.141A>C (p.Thr47=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175492	NM_213649.2(SFXN4):c.668del (p.Lys223fs)	SFXN4 (K223fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2155964	NM_213649.2(SFXN4):c.559A>G (p.Met187Val)	SFXN4 (M187V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2152429	NM_213649.2(SFXN4):c.650G>A (p.Arg217Gln)	SFXN4 (R217Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2076813	NM_213649.2(SFXN4):c.819-1G>C	SFXN4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2065369	NM_213649.2(SFXN4):c.34G>A (p.Gly12Arg)	LOC130004825, SFXN4 (G12R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1946505	NM_213649.2(SFXN4):c.731A>G (p.Lys244Arg)	SFXN4 (K244R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933980	NM_213649.2(SFXN4):c.839A>T (p.Asn280Ile)	SFXN4 (N280I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917049	NM_213649.2(SFXN4):c.63C>T (p.Val21=)	LOC130004825, SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909545	NM_213649.2(SFXN4):c.936+12C>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906065	NM_213649.2(SFXN4):c.733-4C>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902461	NM_213649.2(SFXN4):c.818+12G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879145	NM_213649.2(SFXN4):c.761T>C (p.Ile254Thr)	SFXN4 (I254T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1614784	NM_213649.2(SFXN4):c.280-19T>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1332950	NM_213649.2(SFXN4):c.354A>G (p.Ala118=)	SFXN4	Single nucleotide variant (synonymous variant +2 more)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +1 more	GBenign
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1329769	NM_213649.2(SFXN4):c.819-109_819-108dup	SFXN4	Duplication (intron variant)	not provided	GLikely benign
Select item 1323582	NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)	SFXN4 (L123*)	Single nucleotide variant (nonsense +1 more)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	GPathogenic
Select item 1303934	NM_213649.2(SFXN4):c.929T>C (p.Ile310Thr)	SFXN4 (I310T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1292302	NM_213649.2(SFXN4):c.819-108_819-107insCGCA	SFXN4	Insertion (intron variant)	not provided	GBenign
Select item 1292234	NM_213649.2(SFXN4):c.819-107A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292128	NM_213649.2(SFXN4):c.818+84G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292127	NM_213649.2(SFXN4):c.819-107AC[17]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1292078	NM_213649.2(SFXN4):c.361-42C>T	SFXN4	Single nucleotide variant (intron variant)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +1 more	GBenign
Select item 1292073	NM_213649.2(SFXN4):c.112-87_112-86dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1288420	NM_213649.2(SFXN4):c.819-107AC[18]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1286025	NM_213649.2(SFXN4):c.819-107AC[12]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1276575	NM_213649.2(SFXN4):c.112-87_112-85dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1274971	NM_213649.2(SFXN4):c.537+237del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 1268158	NM_213649.2(SFXN4):c.937-146del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 1267837	NM_213649.2(SFXN4):c.472-24T>A	SFXN4	Single nucleotide variant (intron variant)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +1 more	GBenign
Select item 1264482	NM_213649.2(SFXN4):c.178-149A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263779	NM_213649.2(SFXN4):c.819-110T>C	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259079	NM_213649.2(SFXN4):c.819-105A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256922	NM_213649.2(SFXN4):c.937-189del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 1256640	NM_213649.2(SFXN4):c.937-209_937-208dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1251389	NM_213649.2(SFXN4):c.819-108_819-107insCGCACA	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1250699	NM_213649.2(SFXN4):c.112-87_112-84dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1249137	NM_213649.2(SFXN4):c.819-107AC[14]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1248797	NM_213649.2(SFXN4):c.818+111dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1247723	NM_213649.2(SFXN4):c.178-91A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245985	NM_213649.2(SFXN4):c.360+61C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237656	NM_213649.2(SFXN4):c.*129G>A	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236589	NM_213649.2(SFXN4):c.112-87dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1231767	NM_213649.2(SFXN4):c.819-108_819-107insCGCACACA	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1230906	NM_213649.2(SFXN4):c.819-107AC[13]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1226526	NM_213649.2(SFXN4):c.819-107AC[15]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1225898	NM_213649.2(SFXN4):c.819-121AC[6]	SFXN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1225080	NM_213649.2(SFXN4):c.937-147_937-146del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 1224878	NM_213649.2(SFXN4):c.937-209dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1223646	NM_213649.2(SFXN4):c.360+261A>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217205	NM_213649.2(SFXN4):c.334+95C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216468	NM_213649.2(SFXN4):c.441G>A (p.Ala147=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1214681	NM_213649.2(SFXN4):c.415-32C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211985	NM_213649.2(SFXN4):c.819-156_819-153del	SFXN4	Deletion (intron variant)	not provided	GLikely benign
Select item 1211805	NM_213649.2(SFXN4):c.937-190_937-189del	SFXN4	Deletion (intron variant)	not provided	GLikely benign
Select item 1211583	NM_213649.2(SFXN4):c.360+59C>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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