XPR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 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 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 2783892	NM_004736.4(XPR1):c.69+10C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636341	NM_004736.4(XPR1):c.69+18G>C	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620316	NM_004736.4(XPR1):c.69+20G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021567	NM_004736.4(XPR1):c.70-13T>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662916	NM_004736.4(XPR1):c.93A>T (p.Ser31=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2979379	NM_004736.4(XPR1):c.122-20A>G	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 2730919	NM_004736.4(XPR1):c.130G>A (p.Glu44Lys)	XPR1 (E44K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2794513	NM_004736.4(XPR1):c.138A>G (p.Thr46=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2103309	NM_004736.4(XPR1):c.171G>C (p.Lys57Asn)	XPR1 (K57N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718169	NM_004736.4(XPR1):c.182C>G (p.Thr61Ser)	XPR1 (T61S)	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 2192571	NM_004736.4(XPR1):c.222A>G (p.Ser74=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1599735	NM_004736.4(XPR1):c.223+26_223+27dup	XPR1	Duplication (intron variant)	not provided	GBenign
Select item 1246013	NM_004736.4(XPR1):c.223+27dup	XPR1	Duplication (intron variant)	not provided	GBenign
Select item 1987577	NM_004736.4(XPR1):c.223+27del	XPR1	Deletion (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 1560990	NM_004736.4(XPR1):c.224-11_224-10del	XPR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2417228	NM_004736.4(XPR1):c.231C>T (p.Leu77=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1928970	NM_004736.4(XPR1):c.243G>A (p.Gln81=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967846	NM_004736.4(XPR1):c.272T>C (p.Leu91Pro)	XPR1 (L91P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2347652	NM_004736.4(XPR1):c.278C>T (p.Ser93Leu)	XPR1 (S93L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1521721	NM_004736.4(XPR1):c.289G>T (p.Ala97Ser)	XPR1 (A97S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1667736	NM_004736.4(XPR1):c.304A>G (p.Thr102Ala)	XPR1 (T102A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2614951	NM_004736.4(XPR1):c.317C>T (p.Thr106Met)	XPR1 (T106M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1926266	NM_004736.4(XPR1):c.318G>A (p.Thr106=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1715531	NM_004736.4(XPR1):c.320T>G (p.Leu107Arg)	XPR1 (L107R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961250	NM_004736.4(XPR1):c.328C>T (p.Arg110Cys)	XPR1 (R110C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922355	NM_004736.4(XPR1):c.348C>T (p.His116=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009692	NM_004736.4(XPR1):c.360G>A (p.Glu120=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2302804	NM_004736.4(XPR1):c.398T>A (p.Leu133Gln)	XPR1 (L133Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 192304	NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)	XPR1 (S136N)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 6	GPathogenic
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 192305	NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)	XPR1 (L140P)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 6	GPathogenic
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 2984976	NM_004736.4(XPR1):c.432G>A (p.Leu144=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 192303	NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)	XPR1 (L145P)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 6	GPathogenic
Select item 1950032	NM_004736.4(XPR1):c.448-17C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959294	NM_004736.4(XPR1):c.448-15C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855096	NM_004736.4(XPR1):c.509C>T (p.Ser170Phe)	XPR1 (S170F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1499485	NM_004736.4(XPR1):c.512G>A (p.Arg171His)	XPR1 (R171H)	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 1714956	NM_004736.4(XPR1):c.517G>A (p.Ala173Thr)	XPR1 (A173T)	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	GUncertain significance
Select item 2328397	NM_004736.4(XPR1):c.537C>G (p.His179Gln)	XPR1 (H179Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1651281	NM_004736.4(XPR1):c.537C>T (p.His179=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 806293	NM_004736.4(XPR1):c.544G>C (p.Val182Leu)	XPR1 (V182L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2702518	NM_004736.4(XPR1):c.558T>C (p.Tyr186=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1473342	NM_004736.4(XPR1):c.562T>G (p.Cys188Gly)	XPR1 (C188G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2605632	NM_004736.4(XPR1):c.575A>C (p.Asn192Thr)	XPR1 (N192T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1969799	NM_004736.4(XPR1):c.597+3A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1637683	NM_004736.4(XPR1):c.597+13C>T	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919726	NM_004736.4(XPR1):c.597+14G>A	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215061	NM_004736.4(XPR1):c.597+125A>G	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931060	NM_004736.4(XPR1):c.598-20G>A	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 2995584	NM_004736.4(XPR1):c.636A>G (p.Gln212=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 192306	NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)	XPR1 (L218S)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 6	GPathogenic
Select item 1586948	NM_004736.4(XPR1):c.660C>T (p.Val220=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2183909	NM_004736.4(XPR1):c.663C>A (p.Pro221=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1396043	NM_004736.4(XPR1):c.665C>G (p.Pro222Arg)	XPR1 (P222R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1391940	NM_004736.4(XPR1):c.681G>A (p.Gln227=)	XPR1	Single nucleotide variant (synonymous 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 1719031	NM_004736.4(XPR1):c.735T>G (p.Ile245Met)	XPR1 (I245M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1713311	NM_004736.4(XPR1):c.760G>A (p.Ala254Thr)	XPR1 (A254T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367752	NM_004736.4(XPR1):c.762C>T (p.Ala254=)	XPR1	Single nucleotide variant (synonymous variant +1 more)	Basal ganglia calcification, idiopathic, 6 +1 more	GUncertain significance
Select item 1608286	NM_004736.4(XPR1):c.763+3A>C	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968548	NM_004736.4(XPR1):c.763+15T>G	XPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2728916	NM_004736.4(XPR1):c.766G>A (p.Val256Ile)	XPR1 (V256I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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