"GeneDx"[submitter] AND "SFXN4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57911	GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3	DENND10, EIF3A +36 more	Copy number gain	See cases	GUncertain significance
Select item 1196188	NM_213649.2(SFXN4):c.*272C>A	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194864	NM_213649.2(SFXN4):c.*271A>G	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1186555	NM_213649.2(SFXN4):c.*256G>A	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191001	NM_213649.2(SFXN4):c.*205G>A	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1188485	NM_213649.2(SFXN4):c.*145C>T	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 713829	NM_213649.2(SFXN4):c.937-9A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268158	NM_213649.2(SFXN4):c.937-146del	SFXN4	Deletion (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 1256640	NM_213649.2(SFXN4):c.937-209_937-208dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1224878	NM_213649.2(SFXN4):c.937-209dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1256922	NM_213649.2(SFXN4):c.937-189del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 1211805	NM_213649.2(SFXN4):c.937-190_937-189del	SFXN4	Deletion (intron variant)	not provided	GLikely benign
Select item 683836	NM_213649.2(SFXN4):c.936+326A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689787	NM_213649.2(SFXN4):c.930del (p.Ile310fs)	SFXN4 (I310fs)	Deletion (frameshift variant +1 more)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +1 more	GPathogenic/Likely pathogenic
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 507885	NM_213649.2(SFXN4):c.873T>C (p.Cys291=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1292127	NM_213649.2(SFXN4):c.819-107AC[17]	SFXN4	Microsatellite (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 1249137	NM_213649.2(SFXN4):c.819-107AC[14]	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 1259079	NM_213649.2(SFXN4):c.819-105A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329769	NM_213649.2(SFXN4):c.819-109_819-108dup	SFXN4	Duplication (intron variant)	not provided	GLikely benign
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 1251389	NM_213649.2(SFXN4):c.819-108_819-107insCGCACA	SFXN4	Microsatellite (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 1263779	NM_213649.2(SFXN4):c.819-110T>C	SFXN4	Single nucleotide variant (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 1178822	NM_213649.2(SFXN4):c.819-123G>A	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 683834	NM_213649.2(SFXN4):c.819-325G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683832	NM_213649.2(SFXN4):c.818+244G>C	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683831	NM_213649.2(SFXN4):c.818+169C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248797	NM_213649.2(SFXN4):c.818+111dup	SFXN4	Duplication (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 2505055	NM_213649.2(SFXN4):c.818+4A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 386517	NM_213649.2(SFXN4):c.750A>G (p.Leu250=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 381437	NM_213649.2(SFXN4):c.747G>A (p.Thr249=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
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 681108	NM_213649.2(SFXN4):c.733-50G>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667488	NM_213649.2(SFXN4):c.733-243G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673251	NM_213649.2(SFXN4):c.732+251G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683830	NM_213649.2(SFXN4):c.732+159del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 509984	NM_213649.2(SFXN4):c.703C>T (p.Leu235=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 380100	NM_213649.2(SFXN4):c.678G>A (p.Ala226=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 383524	NM_213649.2(SFXN4):c.660A>G (p.Glu220=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 517891	NM_213649.2(SFXN4):c.636T>C (p.Asn212=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380008	NM_213649.2(SFXN4):c.617-3C>T	SFXN4	Single nucleotide variant (intron variant)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +2 more	GBenign
Select item 739444	NM_213649.2(SFXN4):c.617-4A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1209363	NM_213649.2(SFXN4):c.617-34G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667487	NM_213649.2(SFXN4):c.617-301A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671574	NM_213649.2(SFXN4):c.616+288G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209512	NM_213649.2(SFXN4):c.616+254C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179615	NM_213649.2(SFXN4):c.616+229A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390414	NM_213649.2(SFXN4):c.576T>C (p.Thr192=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 678891	NM_213649.2(SFXN4):c.538-51C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673170	NM_213649.2(SFXN4):c.538-164G>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667486	NM_213649.2(SFXN4):c.538-199T>C	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683829	NM_213649.2(SFXN4):c.538-271A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274971	NM_213649.2(SFXN4):c.537+237del	SFXN4	Deletion (intron variant)	not provided	GBenign
Select item 1191223	NM_213649.2(SFXN4):c.537+136T>C	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 390690	NM_213649.2(SFXN4):c.471C>T (p.Tyr157=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified	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 380007	NM_213649.2(SFXN4):c.415-6C>T	SFXN4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 383035	NM_213649.2(SFXN4):c.415-9T>C	SFXN4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 389410	NM_213649.2(SFXN4):c.415-14G>T	SFXN4	Single nucleotide variant (intron variant)	not specified	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 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 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 1185777	NM_213649.2(SFXN4):c.361-273A>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683828	NM_213649.2(SFXN4):c.361-284A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683826	NM_213649.2(SFXN4):c.360+290G>A	SFXN4	Single nucleotide variant (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 667485	NM_213649.2(SFXN4):c.360+185_360+190del	SFXN4	Microsatellite (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 1211583	NM_213649.2(SFXN4):c.360+59C>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507438	NM_213649.2(SFXN4):c.360+6C>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667484	NM_213649.2(SFXN4):c.334+303C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217205	NM_213649.2(SFXN4):c.334+95C>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380006	NM_213649.2(SFXN4):c.258A>G (p.Gln86=)	SFXN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 667483	NM_213649.2(SFXN4):c.253-297A>T	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671573	NM_213649.2(SFXN4):c.252+229C>A	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204065	NM_213649.2(SFXN4):c.252+91T>C	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516908	NM_213649.2(SFXN4):c.204A>G (p.Leu68=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1247723	NM_213649.2(SFXN4):c.178-91A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264482	NM_213649.2(SFXN4):c.178-149A>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673250	NM_213649.2(SFXN4):c.178-241G>C	SFXN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292073	NM_213649.2(SFXN4):c.112-87_112-86dup	SFXN4	Duplication (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 1250699	NM_213649.2(SFXN4):c.112-87_112-84dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 1236589	NM_213649.2(SFXN4):c.112-87dup	SFXN4	Duplication (intron variant)	not provided	GBenign
Select item 683825	NM_213649.2(SFXN4):c.111+175C>G	SFXN4	Single nucleotide variant (intron variant)	not provided	GBenign
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 515352	NM_213649.2(SFXN4):c.51C>T (p.Arg17=)	LOC130004825, SFXN4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

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