"GeneDx"[submitter] AND "RFT1"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 346181	NM_052859.4(RFT1):c.*146C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 96246	NM_052859.4(RFT1):c.1623A>G (p.Thr541=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +2 more	GBenign
Select item 507030	NM_052859.4(RFT1):c.1560G>A (p.Glu520=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1292069	NM_052859.4(RFT1):c.1459-57C>T	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386047	NM_052859.4(RFT1):c.1458+18A>T	RFT1	Single nucleotide variant (intron variant)	not specified +1 more	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 391934	NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp)	RFT1 (R442W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1187107	NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn)	RFT1 (S428N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 514398	NM_052859.4(RFT1):c.1209-6C>T	RFT1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1225586	NM_052859.4(RFT1):c.1209-53_1209-39del	RFT1	Deletion (intron variant)	not provided	GBenign
Select item 1233979	NM_052859.4(RFT1):c.1208+248G>C	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 524109	NM_052859.4(RFT1):c.1198del (p.Glu400fs)	RFT1 (E400fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1262159	NM_052859.4(RFT1):c.1103-24T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 1257923	NM_052859.4(RFT1):c.1103-274T>C	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222231	NM_052859.4(RFT1):c.958-114C>T	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252550	NM_052859.4(RFT1):c.958-141A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297857	NM_052859.4(RFT1):c.958-303dup	RFT1	Duplication (intron variant)	not provided	GBenign
Select item 1200293	NM_052859.4(RFT1):c.958-290del	RFT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1288374	NM_052859.4(RFT1):c.957+258_957+262del	RFT1	Deletion (intron variant)	not provided	GBenign
Select item 1292018	NM_052859.4(RFT1):c.957+248G>C	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224097	NM_052859.4(RFT1):c.957+183G>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277720	NM_052859.4(RFT1):c.957+182T>C	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216899	NM_052859.4(RFT1):c.957+45A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 346188	NM_052859.4(RFT1):c.924G>A (p.Leu308=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 489175	NM_052859.4(RFT1):c.827-6T>G	RFT1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 512782	NM_052859.4(RFT1):c.827-9del	RFT1	Deletion (intron variant)	not specified	GLikely benign
Select item 1288526	NM_052859.4(RFT1):c.827-158C>T	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182388	NM_052859.4(RFT1):c.826+232A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272905	NM_052859.4(RFT1):c.826+205T>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380593	NM_052859.4(RFT1):c.826+7T>C	RFT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1263619	NM_052859.4(RFT1):c.776-284dup	RFT1	Duplication (intron variant)	not provided	GBenign
Select item 1270801	NM_052859.4(RFT1):c.776-271_776-268del	RFT1	Deletion (intron variant)	not provided	GBenign
Select item 523841	NM_052859.4(RFT1):c.710G>A (p.Trp237Ter)	RFT1 (W237*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1215411	NM_052859.4(RFT1):c.696+221_696+222dup	RFT1	Duplication (intron variant)	not provided	GLikely benign
Select item 390029	NM_052859.4(RFT1):c.657C>T (p.Ser219=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 507944	NM_052859.4(RFT1):c.573A>C (p.Thr191=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1292314	NM_052859.4(RFT1):c.559-101_559-96del	RFT1	Deletion (intron variant)	not provided	GBenign
Select item 1266805	NM_052859.4(RFT1):c.559-106_559-103del	RFT1	Deletion (intron variant)	not provided	GBenign
Select item 1289277	NM_052859.4(RFT1):c.559-230G>C	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346196	NM_052859.4(RFT1):c.553G>A (p.Ala185Thr)	RFT1 (A185T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 426331	NM_052859.4(RFT1):c.545del (p.Phe182fs)	RFT1 (F182fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1307850	NM_052859.4(RFT1):c.464C>G (p.Ala155Gly)	RFT1 (A155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180140	NM_052859.4(RFT1):c.457-249C>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 96247	NM_052859.4(RFT1):c.382C>T (p.Leu128Phe)	RFT1 (L128F)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 346198	NM_052859.4(RFT1):c.303C>G (p.Gly101=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 380099	NM_052859.4(RFT1):c.267-20A>T	RFT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1279593	NM_052859.4(RFT1):c.267-288A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294098	NM_052859.4(RFT1):c.266+271G>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239271	NM_052859.4(RFT1):c.266+194A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296495	NM_052859.4(RFT1):c.266+137A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382086	NM_052859.4(RFT1):c.258G>A (p.Leu86=)	RFT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 372948	NM_052859.4(RFT1):c.200G>A (p.Arg67His)	RFT1 (R67H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 785	NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)	RFT1 (R67C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1338935	NM_052859.4(RFT1):c.150-224C>T	RFT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178256	NM_052859.4(RFT1):c.150-302A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509555	NM_052859.4(RFT1):c.149+16C>T	RFT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2533037	NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)	RFT1 (R25Q)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 346200	NM_052859.4(RFT1):c.64-14C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1247570	NM_052859.4(RFT1):c.64-122A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229783	NM_052859.4(RFT1):c.64-183C>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229821	NM_052859.4(RFT1):c.64-206A>G	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231538	NM_052859.4(RFT1):c.64-233C>T	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281580	NM_052859.4(RFT1):c.64-259T>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250276	NM_052859.4(RFT1):c.64-260G>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258551	NM_052859.4(RFT1):c.64-261G>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296407	NM_052859.4(RFT1):c.63+260G>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235082	NM_052859.4(RFT1):c.63+161G>A	RFT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346201	NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)	LOC129936883, RFT1 (S16C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 817059	NM_052859.4(RFT1):c.36_37delinsA (p.Leu13fs)	LOC129936883, RFT1 (L13fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 697945	NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)	LOC129936883, RFT1 (G2D)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 517876	NM_052859.4(RFT1):c.-7G>A	LOC129936883, RFT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508827	NM_052859.4(RFT1):c.-16G>A	LOC129936883, RFT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 391203	NM_052859.3(RFT1):c.-42T>C	LOC129936883, RFT1	Single nucleotide variant	not specified	GLikely benign
Select item 1217464	NC_000003.12:g.53130510G>C	LOC129936884, RFT1	Single nucleotide variant	not provided	GLikely benign
Select item 1245411	NC_000003.12:g.53130787C>T	RFT1	Single nucleotide variant	not provided	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 78