"GeneDx"[submitter] AND "XPR1"[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 1289609	NC_000001.11:g.180631834A>G	XPR1	Single nucleotide variant	not provided	GBenign
Select item 1180148	NC_000001.11:g.180631870A>G	XPR1	Single nucleotide variant	not provided	GBenign
Select item 1216024	NC_000001.11:g.180631892C>T	XPR1	Single nucleotide variant	not provided	GLikely benign
Select item 1223121	NC_000001.11:g.180631920A>C	XPR1	Single nucleotide variant	not provided	GLikely benign
Select item 1258663	NM_004736.4(XPR1):c.-132G>A	XPR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3378009	NM_004736.4(XPR1):c.23C>A (p.Ser8Tyr)	XPR1 (S8Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662874	NM_004736.4(XPR1):c.26C>G (p.Ala9Gly)	XPR1 (A9G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937231	NM_004736.4(XPR1):c.66T>C (p.Tyr22=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1211136	NM_004736.4(XPR1):c.121+67G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194048	NM_004736.4(XPR1):c.121+249A>C	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136082	NM_004736.4(XPR1):c.122-1G>C	XPR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2579555	NM_004736.4(XPR1):c.143A>G (p.Lys48Arg)	XPR1 (K48R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302333	NM_004736.4(XPR1):c.188A>G (p.Glu63Gly)	XPR1 (E63G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246013	NM_004736.4(XPR1):c.223+27dup	XPR1	Duplication (intron variant)	not provided	GBenign
Select item 1281131	NM_004736.4(XPR1):c.223+66A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235343	NM_004736.4(XPR1):c.223+127_223+128insT	XPR1	Insertion (intron variant)	not provided	GBenign
Select item 1280159	NM_004736.4(XPR1):c.223+154G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271340	NM_004736.4(XPR1):c.223+296T>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270833	NM_004736.4(XPR1):c.224-200G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197006	NM_004736.4(XPR1):c.224-189G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239711	NM_004736.4(XPR1):c.224-179G>C	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281358	NM_004736.4(XPR1):c.224-110G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275336	NM_004736.4(XPR1):c.224-89A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304787	NM_004736.4(XPR1):c.395A>C (p.Lys132Thr)	XPR1 (K132T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287169	NM_004736.4(XPR1):c.408T>C (p.Ser136=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1308979	NM_004736.4(XPR1):c.416A>C (p.Tyr139Ser)	XPR1 (Y139S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579419	NM_004736.4(XPR1):c.421A>G (p.Ser141Gly)	XPR1 (S141G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444847	NM_004736.4(XPR1):c.515G>A (p.Gly172Glu)	XPR1 (G172E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305430	NM_004736.4(XPR1):c.526C>T (p.Arg176Ter)	XPR1 (R176*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1215061	NM_004736.4(XPR1):c.597+125A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2577775	NM_004736.4(XPR1):c.605T>G (p.Val202Gly)	XPR1 (V202G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800738	NM_004736.4(XPR1):c.608C>T (p.Thr203Ile)	XPR1 (T203I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1178390	NM_004736.4(XPR1):c.682-19A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178183	NM_004736.4(XPR1):c.764-273C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276918	NM_004736.4(XPR1):c.764-161G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232287	NM_004736.4(XPR1):c.764-25G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242697	NM_004736.4(XPR1):c.764-16C>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304491	NM_004736.4(XPR1):c.808del (p.Arg270fs)	XPR1 (R270fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 774161	NM_004736.4(XPR1):c.819G>T (p.Arg273=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 718143	NM_004736.4(XPR1):c.921G>A (p.Pro307=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1306702	NM_004736.4(XPR1):c.1072T>C (p.Phe358Leu)	XPR1 (F358L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 546268	NM_004736.4(XPR1):c.1112G>A (p.Arg371Gln)	XPR1 (R371Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1296715	NM_004736.4(XPR1):c.1128A>G (p.Lys376=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2575600	NM_004736.4(XPR1):c.1134+1G>C	XPR1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1270480	NM_004736.4(XPR1):c.1134+173T>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267489	NM_004736.4(XPR1):c.1134+234T>C	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223581	NM_004736.4(XPR1):c.1134+281C>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204626	NM_004736.4(XPR1):c.1135-269del	XPR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1267609	NM_004736.4(XPR1):c.1135-88T>C	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276216	NM_004736.4(XPR1):c.1135-45C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281645	NM_004736.4(XPR1):c.1135-8dup	XPR1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1231396	NM_004736.4(XPR1):c.1158C>T (p.Phe386=)	XPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783955	NM_004736.4(XPR1):c.1306+8A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1231376	NM_004736.4(XPR1):c.1306+18A>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188520	NM_004736.4(XPR1):c.1306+298A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254346	NM_004736.4(XPR1):c.1307-154dup	XPR1	Duplication (intron variant)	not provided	GBenign
Select item 1296693	NM_004736.4(XPR1):c.1307-154del	XPR1	Deletion (intron variant)	not provided	GBenign
Select item 1711948	NM_004736.4(XPR1):c.1408A>G (p.Thr470Ala)	XPR1 (T470A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1245289	NM_004736.4(XPR1):c.1502-219G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222301	NM_004736.4(XPR1):c.1502-55A>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236785	NM_004736.4(XPR1):c.1668+77C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256828	NM_004736.4(XPR1):c.1668+262A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246975	NM_004736.4(XPR1):c.1669-135G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276135	NM_004736.4(XPR1):c.1669-117G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262275	NM_004736.4(XPR1):c.1669-83G>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770330	NM_004736.4(XPR1):c.1723A>G (p.Ile575Val)	XPR1 (I510V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2579435	NM_004736.4(XPR1):c.1780A>G (p.Thr594Ala)	XPR1 (T529A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1290105	NM_004736.4(XPR1):c.1809-131A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246311	NM_004736.4(XPR1):c.1809-72A>C	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1655345	NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)	XPR1 (R594W +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 726176	NM_004736.4(XPR1):c.2023G>A (p.Ala675Thr)	XPR1 (A610T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291819	NM_004736.4(XPR1):c.2030+61T>C	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246263	NM_004736.4(XPR1):c.2030+206G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197985	NM_004736.4(XPR1):c.2030+210A>C	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268406	NM_004736.4(XPR1):c.2030+215C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245460	NM_004736.4(XPR1):c.2031-282dup	XPR1	Duplication (intron variant)	not provided	GBenign
Select item 1268584	NM_004736.4(XPR1):c.2031-87G>T	XPR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215400	NM_004736.4(XPR1):c.*81T>C	XPR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 3360234	NM_004736.4(XPR1):c.230T>C (p.Leu77Pro)	XPR1 (L77P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 81