"Invitae"[submitter] AND "RFT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96246	NM_052859.4(RFT1):c.1623A>G (p.Thr541=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-related condition +2 more	GBenign
Select item 2737478	NM_052859.4(RFT1):c.1608C>T (p.Arg536=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1990140	NM_052859.4(RFT1):c.1608C>G (p.Arg536=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1435992	NM_052859.4(RFT1):c.1607G>A (p.Arg536His)	RFT1 (R536H)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1588700	NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys)	RFT1 (R536C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1567614	NM_052859.4(RFT1):c.1599G>A (p.Val533=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1360971	NM_052859.4(RFT1):c.1598T>C (p.Val533Ala)	RFT1 (V533A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1998492	NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)	RFT1 (V533L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1358165	NM_052859.4(RFT1):c.1595G>T (p.Gly532Val)	RFT1 (G532V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1366941	NM_052859.4(RFT1):c.1590G>C (p.Gln530His)	RFT1 (Q530H)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1548868	NM_052859.4(RFT1):c.1581C>T (p.Leu527=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1942024	NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)	RFT1 (I524F)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1518097	NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp)	RFT1 (E520D)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 507030	NM_052859.4(RFT1):c.1560G>A (p.Glu520=)	RFT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2413211	NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)	RFT1 (T519A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1009089	NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser)	RFT1 (A516S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1467314	NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg)	RFT1 (G514R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 902847	NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)	RFT1 (G510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1995286	NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)	RFT1 (F507L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1496008	NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr)	RFT1 (A506T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2731462	NM_052859.4(RFT1):c.1515G>A (p.Gly505=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2757473	NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)	RFT1 (V504L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2160609	NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)	RFT1 (G494S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1670970	NM_052859.4(RFT1):c.1479G>A (p.Gln493=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1550782	NM_052859.4(RFT1):c.1476G>A (p.Glu492=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2086995	NM_052859.4(RFT1):c.1459-14G>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1652473	NM_052859.4(RFT1):c.1459-14G>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 3009431	NM_052859.4(RFT1):c.1459-17A>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 386047	NM_052859.4(RFT1):c.1458+18A>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2031461	NM_052859.4(RFT1):c.1458+16C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2114809	NM_052859.4(RFT1):c.1458+15G>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 537340	NM_052859.4(RFT1):c.1455G>A (p.Ser485=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1414998	NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu)	RFT1 (S485L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2024758	NM_052859.4(RFT1):c.1446dup (p.Ala483fs)	RFT1 (A483fs)	Duplication (frameshift variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1444156	NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser)	RFT1 (A483S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2082256	NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)	RFT1 (S478T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2120314	NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)	RFT1 (F475C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1501012	NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg)	RFT1 (G473R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2157439	NM_052859.4(RFT1):c.1416C>T (p.Leu472=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1716559	NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)	RFT1 (L472F)	Indel (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1077311	NM_052859.4(RFT1):c.1407A>G (p.Pro469=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1632404	NM_052859.4(RFT1):c.1404G>A (p.Ser468=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2743080	NM_052859.4(RFT1):c.1401A>T (p.Leu467=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1597268	NM_052859.4(RFT1):c.1401A>G (p.Leu467=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1369239	NM_052859.4(RFT1):c.1399dup (p.Leu467fs)	RFT1 (L467fs)	Duplication (frameshift variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 703886	NM_052859.4(RFT1):c.1400T>G (p.Leu467Arg)	RFT1 (L467R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2769263	NM_052859.4(RFT1):c.1398C>T (p.His466=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1496250	NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp)	RFT1 (G464D)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 287057	NM_052859.4(RFT1):c.1388C>T (p.Ala463Val)	RFT1 (A463V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2187936	NM_052859.4(RFT1):c.1386G>A (p.Leu462=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1080804	NM_052859.4(RFT1):c.1384C>T (p.Leu462=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2103593	NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)	RFT1 (P461T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1536175	NM_052859.4(RFT1):c.1377C>T (p.His459=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1446162	NM_052859.4(RFT1):c.1376A>G (p.His459Arg)	RFT1 (H459R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2427853	NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)	RFT1 (H459Y)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 3001738	NM_052859.4(RFT1):c.1359C>T (p.Tyr453=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 719646	NM_052859.4(RFT1):c.1356C>T (p.Arg452=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1443948	NM_052859.4(RFT1):c.1355G>A (p.Arg452His)	RFT1 (R452H)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1502351	NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys)	RFT1 (R452C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2187089	NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)	RFT1 (I450V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 900291	NM_052859.4(RFT1):c.1344C>T (p.Cys448=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1545292	NM_052859.4(RFT1):c.1341T>G (p.Leu447=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 767069	NM_052859.4(RFT1):c.1332G>A (p.Thr444=)	RFT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 733339	NM_052859.4(RFT1):c.1332G>T (p.Thr444=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 547993	NM_052859.4(RFT1):c.1331C>T (p.Thr444Met)	RFT1 (T444M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2804759	NM_052859.4(RFT1):c.1326G>A (p.Arg442=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 207991	NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)	RFT1 (R442Q)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 391934	NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp)	RFT1 (R442W)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1363537	NM_052859.4(RFT1):c.1316T>C (p.Met439Thr)	RFT1 (M439T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1384390	NM_052859.4(RFT1):c.1315A>G (p.Met439Val)	RFT1 (M439V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1902925	NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)	RFT1 (I432V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2418769	NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)	RFT1 (G430D)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1414311	NM_052859.4(RFT1):c.1286T>C (p.Val429Ala)	RFT1 (V429A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1517465	NM_052859.4(RFT1):c.1285G>A (p.Val429Met)	RFT1 (V429M)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1668770	NM_052859.4(RFT1):c.1284C>T (p.Ser428=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1187107	NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn)	RFT1 (S428N)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2073967	NM_052859.4(RFT1):c.1271G>A (p.Arg424His)	RFT1 (R424H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 469624	NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys)	RFT1 (R424C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1580945	NM_052859.4(RFT1):c.1269C>G (p.Thr423=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2418673	NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)	RFT1 (L421V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1977982	NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)	RFT1 (S414del)	Microsatellite (inframe_deletion)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1476610	NM_052859.4(RFT1):c.1231del (p.Leu411fs)	RFT1 (L411fs)	Deletion (frameshift variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2111444	NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)	RFT1 (L409P)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1309222	NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser)	RFT1 (N405S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1562697	NM_052859.4(RFT1):c.1209-4C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 514398	NM_052859.4(RFT1):c.1209-6C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-related condition +2 more	GLikely benign
Select item 1597507	NM_052859.4(RFT1):c.1209-16C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2002457	NM_052859.4(RFT1):c.1209-18T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1536607	NM_052859.4(RFT1):c.1208+20C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1644958	NM_052859.4(RFT1):c.1208+19A>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 900292	NM_052859.4(RFT1):c.1208+15A>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1965346	NM_052859.4(RFT1):c.1208+11T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1962622	NM_052859.4(RFT1):c.1208+7A>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2037268	NM_052859.4(RFT1):c.1208+3G>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1668665	NM_052859.4(RFT1):c.1203C>T (p.Val401=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 524109	NM_052859.4(RFT1):c.1198del (p.Glu400fs)	RFT1 (E400fs)	Deletion (frameshift variant)	RFT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1611687	NM_052859.4(RFT1):c.1197G>A (p.Glu399=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1350291	NM_052859.4(RFT1):c.1195G>T (p.Glu399Ter)	RFT1 (E399*)	Single nucleotide variant (nonsense)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1381329	NM_052859.4(RFT1):c.1187T>C (p.Met396Thr)	RFT1 (M396T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1356472	NM_052859.4(RFT1):c.1186A>G (p.Met396Val)	RFT1 (M396V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance

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