"Eurofins Ntd Llc (ga)"[submitter] AND "SLC27A5"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596569	NM_012254.3(SLC27A5):c.*9C>G	SLC27A5	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 499062	NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 498418	NM_012254.3(SLC27A5):c.2049G>T (p.Val683=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 596660	NM_012254.3(SLC27A5):c.2035A>G (p.Met679Val)	SLC27A5 (M679V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500241	NM_012254.3(SLC27A5):c.2017C>T (p.Arg673Trp)	SLC27A5 (R673W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284998	NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly)	SLC27A5 (A669G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 498155	NM_012254.3(SLC27A5):c.1975G>T (p.Val659Phe)	SLC27A5 (V659F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502272	NM_012254.3(SLC27A5):c.1940G>T (p.Arg647Leu)	SLC27A5 (R647L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 502065	NM_012254.3(SLC27A5):c.1940G>A (p.Arg647Gln)	SLC27A5 (R647Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499339	NM_012254.3(SLC27A5):c.1909G>C (p.Val637Leu)	SLC27A5 (V637L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598344	NM_012254.3(SLC27A5):c.1876C>T (p.Pro626Ser)	SLC27A5 (P626S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593788	NM_012254.3(SLC27A5):c.1852G>A (p.Ala618Thr)	SLC27A5 (A618T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597175	NM_012254.3(SLC27A5):c.1833G>C (p.Lys611Asn)	SLC27A5 (K611N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596892	NM_012254.3(SLC27A5):c.1830G>T (p.Glu610Asp)	SLC27A5 (E610D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598169	NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 598041	NM_012254.3(SLC27A5):c.1784del (p.Gly595fs)	SLC27A5 (G595fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 596253	NM_012254.3(SLC27A5):c.1743C>T (p.Asn581=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 283611	NM_012254.3(SLC27A5):c.1710G>A (p.Val570=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594311	NM_012254.3(SLC27A5):c.1696G>A (p.Glu566Lys)	SLC27A5 (E566K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198851	NM_012254.3(SLC27A5):c.1686G>A (p.Val562=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 500074	NM_012254.3(SLC27A5):c.1668A>G (p.Arg556=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596516	NM_012254.3(SLC27A5):c.1668-9T>A	SLC27A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 500891	NM_012254.3(SLC27A5):c.1668-10C>T	SLC27A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 594714	NM_012254.3(SLC27A5):c.1667+9C>T	SLC27A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 289908	NM_012254.3(SLC27A5):c.1642C>T (p.Arg548Cys)	SLC27A5 (R548C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597320	NM_012254.3(SLC27A5):c.1617G>T (p.Met539Ile)	SLC27A5 (M539I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285420	NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr)	SLC27A5 (M539T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286570	NM_012254.3(SLC27A5):c.1612G>A (p.Ala538Thr)	SLC27A5 (A538T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288099	NM_012254.3(SLC27A5):c.1535G>T (p.Arg512Leu)	SLC27A5 (R512L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 500045	NM_012254.3(SLC27A5):c.1510C>A (p.Pro504Thr)	SLC27A5 (P504T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595158	NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu)	SLC27A5 (V500L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595267	NM_012254.3(SLC27A5):c.1478G>A (p.Gly493Glu)	LOC130065230, SLC27A5 (G493E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593176	NM_012254.3(SLC27A5):c.1464_1468+1del	SLC27A5	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 501875	NM_012254.3(SLC27A5):c.1468G>C (p.Gly490Arg)	SLC27A5 (G490R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500259	NM_012254.3(SLC27A5):c.1419G>A (p.Ala473=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 596196	NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595286	NM_012254.3(SLC27A5):c.1397T>G (p.Leu466Arg)	SLC27A5 (L466R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594646	NM_012254.3(SLC27A5):c.1378-10T>G	SLC27A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 497772	NM_012254.3(SLC27A5):c.1377+10C>T	SLC27A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 595979	NM_012254.3(SLC27A5):c.1345G>A (p.Gly449Arg)	SLC27A5 (G449R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501350	NM_012254.3(SLC27A5):c.1339C>T (p.Arg447Cys)	SLC27A5 (R447C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286654	NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 289124	NM_012254.3(SLC27A5):c.1315A>G (p.Met439Val)	SLC27A5 (M439V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502330	NM_012254.3(SLC27A5):c.1265G>A (p.Arg422His)	SLC27A5 (R422H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 595009	NM_012254.3(SLC27A5):c.1235G>C (p.Arg412Pro)	SLC27A5 (R412P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289260	NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)	SLC27A5 (G410E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 595273	NM_012254.3(SLC27A5):c.1210C>T (p.Arg404Cys)	SLC27A5 (R404C +1 more)	Single nucleotide variant (missense variant)	SLC27A5-related disorder +1 more	GUncertain significance
Select item 598234	NM_012254.3(SLC27A5):c.1196G>A (p.Arg399Gln)	SLC27A5 (R399Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499213	NM_012254.3(SLC27A5):c.1182+7C>T	SLC27A5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 594668	NM_012254.3(SLC27A5):c.1177C>T (p.Pro393Ser)	SLC27A5 (P393S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281887	NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)	SLC27A5 (R387Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597916	NM_012254.3(SLC27A5):c.1148del (p.Gly383fs)	SLC27A5 (G299fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 289552	NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 498430	NM_012254.3(SLC27A5):c.1114C>T (p.Arg372Trp)	SLC27A5 (R372W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596282	NM_012254.3(SLC27A5):c.1030G>A (p.Val344Ile)	SLC27A5 (V344I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498421	NM_012254.3(SLC27A5):c.973A>G (p.Thr325Ala)	SLC27A5 (T325A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497767	NM_012254.3(SLC27A5):c.972C>T (p.Ala324=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 593521	NM_012254.3(SLC27A5):c.945G>A (p.Met315Ile)	SLC27A5 (M315I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289829	NM_012254.3(SLC27A5):c.937C>T (p.Leu313=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 289551	NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)	SLC27A5 (V312I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 595363	NM_012254.3(SLC27A5):c.906G>A (p.Pro302=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 281722	NM_012254.3(SLC27A5):c.899-6C>T	SLC27A5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 289884	NM_012254.3(SLC27A5):c.842G>A (p.Arg281His)	SLC27A5 (R281H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290386	NM_012254.3(SLC27A5):c.820C>T (p.His274Tyr)	SLC27A5 (H274Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288103	NM_012254.3(SLC27A5):c.813G>T (p.Ala271=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 289989	NM_012254.3(SLC27A5):c.802C>G (p.Leu268Val)	SLC27A5 (L268V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594099	NM_012254.3(SLC27A5):c.780G>A (p.Gly260=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594626	NM_012254.3(SLC27A5):c.760C>T (p.His254Tyr)	SLC27A5 (H254Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195288	NM_012254.3(SLC27A5):c.743G>A (p.Arg248His)	SLC27A5 (R248H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 500204	NM_012254.3(SLC27A5):c.695G>A (p.Arg232Gln)	SLC27A5 (R232Q +1 more)	Single nucleotide variant (missense variant)	SLC27A5-related disorder +2 more	GUncertain significance
Select item 193365	NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val)	SLC27A5 (A214V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 593339	NM_012254.3(SLC27A5):c.626G>A (p.Arg209Gln)	SLC27A5 (R209Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 501430	NM_012254.3(SLC27A5):c.589C>A (p.Leu197Met)	SLC27A5 (L197M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596447	NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile)	SLC27A5 (V185I)	Single nucleotide variant (missense variant +1 more)	SLC27A5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 288697	NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)	SLC27A5 (T175I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502646	NM_012254.3(SLC27A5):c.513C>G (p.Ala171=)	SLC27A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 289036	NM_012254.3(SLC27A5):c.464C>T (p.Ala155Val)	SLC27A5 (A155V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 498426	NM_012254.3(SLC27A5):c.451C>T (p.Arg151Trp)	SLC27A5 (R151W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 594106	NM_012254.3(SLC27A5):c.421G>A (p.Gly141Ser)	SLC27A5 (G141S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594644	NM_012254.3(SLC27A5):c.378G>A (p.Ala126=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594135	NM_012254.3(SLC27A5):c.377C>T (p.Ala126Val)	SLC27A5 (A126V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287503	NM_012254.3(SLC27A5):c.368G>A (p.Arg123Gln)	SLC27A5 (R123Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 288715	NM_012254.3(SLC27A5):c.356C>A (p.Ala119Asp)	SLC27A5 (A119D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595354	NM_012254.3(SLC27A5):c.343A>G (p.Thr115Ala)	SLC27A5 (T115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193364	NM_012254.3(SLC27A5):c.336G>A (p.Pro112=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 193363	NM_012254.3(SLC27A5):c.335C>T (p.Pro112Leu)	SLC27A5 (P112L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502060	NM_012254.3(SLC27A5):c.309G>A (p.Lys103=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 593443	NM_012254.3(SLC27A5):c.274A>T (p.Ile92Phe)	SLC27A5 (I92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499064	NM_012254.3(SLC27A5):c.264G>A (p.Pro88=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 288352	NM_012254.3(SLC27A5):c.263C>T (p.Pro88Leu)	SLC27A5 (P88L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 593762	NM_012254.3(SLC27A5):c.254G>A (p.Arg85His)	SLC27A5 (R85H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597238	NM_012254.3(SLC27A5):c.225C>T (p.Leu75=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 598595	NM_012254.3(SLC27A5):c.214G>A (p.Ala72Thr)	SLC27A5 (A72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501369	NM_012254.3(SLC27A5):c.192G>A (p.Leu64=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 498159	NM_012254.3(SLC27A5):c.169G>A (p.Gly57Ser)	SLC27A5 (G57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501324	NM_012254.3(SLC27A5):c.158G>A (p.Arg53Gln)	SLC27A5 (R53Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286343	NM_012254.3(SLC27A5):c.157C>T (p.Arg53Trp)	SLC27A5 (R53W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 286342	NM_012254.3(SLC27A5):c.149T>C (p.Met50Thr)	SLC27A5 (M50T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 193362	NM_012254.3(SLC27A5):c.110T>G (p.Leu37Arg)	SLC27A5 (L37R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 597584	NM_012254.3(SLC27A5):c.106C>T (p.Leu36Phe)	SLC27A5 (L36F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

<< First< Prev

Page of 2