Related gene-specific medical variations for Gene (Select 50615) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 154

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362656	NM_181078.3(IL21R):c.637del (p.Thr213fs)	IL21R (T213fs +1 more)	Deletion (frameshift variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely pathogenic
Select item 3109308	NM_181078.3(IL21R):c.880G>A (p.Ala294Thr)	IL21R, IL21R-AS1 (A294T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3109304	NM_181078.3(IL21R):c.1567T>G (p.Trp523Gly)	IL21R, IL21R-AS1 +1 more (W523G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109303	NM_181078.3(IL21R):c.1147G>A (p.Asp383Asn)	IL21R, IL21R-AS1 (D383N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053490	NM_181078.3(IL21R):c.1137G>A (p.Val379=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder	GLikely benign
Select item 2968079	NM_181078.3(IL21R):c.1107G>A (p.Arg369=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2965354	NM_181078.3(IL21R):c.1607A>G (p.Gln536Arg)	IL21R, IL21R-AS1 (Q536R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2819662	NM_181078.3(IL21R):c.1528C>T (p.Pro510Ser)	IL21R, IL21R-AS1 +1 more (P510S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2815442	NM_181078.3(IL21R):c.1590T>G (p.Leu530=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2785244	NM_181078.3(IL21R):c.1046C>T (p.Pro349Leu)	IL21R, IL21R-AS1 (P349L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2779423	NM_181078.3(IL21R):c.1387C>T (p.Leu463=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2777827	NM_181078.3(IL21R):c.1325T>G (p.Leu442Arg)	IL21R, IL21R-AS1 (L442R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2770382	NM_181078.3(IL21R):c.1602A>T (p.Gly534=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2759420	NM_181078.3(IL21R):c.978C>A (p.Ala326=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2759223	NM_181078.3(IL21R):c.1030G>C (p.Asp344His)	IL21R, IL21R-AS1 +1 more (D344H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2757351	NM_181078.3(IL21R):c.996G>A (p.Thr332=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (synonymous variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2724570	NM_181078.3(IL21R):c.1431G>A (p.Glu477=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2683352	NM_181078.3(IL21R):c.1166C>T (p.Thr389Ile)	IL21R, IL21R-AS1 (T389I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2635770	NM_181078.3(IL21R):c.1072T>G (p.Ser358Ala)	IL21R, IL21R-AS1 (S358A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	IL21R-related disorder	GUncertain significance
Select item 2624131	NM_181078.3(IL21R):c.1494C>A (p.Asp498Glu)	IL21R, IL21R-AS1 +1 more (D498E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602239	NM_181078.3(IL21R):c.1225G>A (p.Glu409Lys)	IL21R, IL21R-AS1 (E409K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556167	NM_181078.3(IL21R):c.1102G>A (p.Asp368Asn)	IL21R, IL21R-AS1 (D368N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492603	NM_181078.3(IL21R):c.1412G>A (p.Gly471Glu)	IL21R, IL21R-AS1 +1 more (G471E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410048	NM_181078.3(IL21R):c.1156G>A (p.Gly386Arg)	IL21R, IL21R-AS1 (G386R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296303	NM_181078.3(IL21R):c.1462G>A (p.Asp488Asn)	IL21R, IL21R-AS1 +1 more (D488N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259463	NM_181078.3(IL21R):c.1511A>C (p.Glu504Ala)	IL21R, IL21R-AS1 +1 more (E526A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201659	NM_181078.3(IL21R):c.1052T>C (p.Phe351Ser)	IL21R, IL21R-AS1 (F351S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2186669	NM_181078.3(IL21R):c.1212G>A (p.Leu404=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2177645	NM_181078.3(IL21R):c.1581T>C (p.Pro527=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2171302	NM_181078.3(IL21R):c.947T>C (p.Val316Ala)	IL21R, IL21R-AS1 (V338A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2170756	NM_181078.3(IL21R):c.1592C>T (p.Ser531Leu)	IL21R, IL21R-AS1 (S553L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2132800	NM_181078.3(IL21R):c.983G>A (p.Arg328Lys)	IL21R, IL21R-AS1 +1 more (R328K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2118492	NM_181078.3(IL21R):c.1605C>G (p.Pro535=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2117960	NM_181078.3(IL21R):c.985C>G (p.Leu329Val)	IL21R, IL21R-AS1 +1 more (L329V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2106085	NM_181078.3(IL21R):c.970A>G (p.Ser324Gly)	IL21R, IL21R-AS1 (S324G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2103111	NM_181078.3(IL21R):c.1326G>A (p.Leu442=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2096720	NM_181078.3(IL21R):c.1330A>G (p.Ser444Gly)	IL21R, IL21R-AS1 (S466G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2062411	NM_181078.3(IL21R):c.1076G>T (p.Gly359Val)	IL21R, IL21R-AS1 (G359V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2046583	NM_181078.3(IL21R):c.1074G>A (p.Ser358=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2015789	NM_181078.3(IL21R):c.1173C>T (p.Pro391=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2014002	NM_181078.3(IL21R):c.1080C>T (p.Gly360=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2006818	NM_181078.3(IL21R):c.1286G>T (p.Gly429Val)	IL21R, IL21R-AS1 (G429V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2000249	NM_181078.3(IL21R):c.1001T>C (p.Leu334Pro)	LOC130058712, IL21R +1 more (L356P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1983008	NM_181078.3(IL21R):c.933C>T (p.Pro311=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1978653	NM_181078.3(IL21R):c.1463A>G (p.Asp488Gly)	IL21R, IL21R-AS1 +1 more (D510G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1932000	NM_181078.3(IL21R):c.903G>T (p.Leu301=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1927855	NM_181078.3(IL21R):c.1155G>A (p.Glu385=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1911668	NM_181078.3(IL21R):c.1075G>A (p.Gly359Arg)	IL21R, IL21R-AS1 (G381R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1714479	NM_181078.3(IL21R):c.1363G>C (p.Asp455His)	IL21R, IL21R-AS1 +1 more (D455H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1693659	NM_181078.3(IL21R):c.1547C>G (p.Pro516Arg)	IL21R, IL21R-AS1 +1 more (P516R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1687495	NM_181078.3(IL21R):c.946del (p.Val316fs)	IL21R, IL21R-AS1 (V316fs +1 more)	Deletion (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely pathogenic
Select item 1675617	NM_181078.3(IL21R):c.1512G>A (p.Glu504=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1601002	NM_181078.3(IL21R):c.1563C>T (p.Arg521=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GBenign
Select item 1598361	NM_181078.3(IL21R):c.1433C>T (p.Ala478Val)	IL21R, IL21R-AS1 +1 more (A478V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1594634	NM_181078.3(IL21R):c.909G>A (p.Leu303=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1591616	NM_181078.3(IL21R):c.975G>A (p.Pro325=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1570388	NM_181078.3(IL21R):c.978C>G (p.Ala326=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1567007	NM_181078.3(IL21R):c.1236A>T (p.Pro412=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1566420	NM_181078.3(IL21R):c.1059G>A (p.Pro353=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1521933	NM_181078.3(IL21R):c.1360G>A (p.Ala454Thr)	IL21R, IL21R-AS1 +1 more (A476T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1517421	NM_181078.3(IL21R):c.1415G>C (p.Gly472Ala)	IL21R, IL21R-AS1 +1 more (G472A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1505440	NM_181078.3(IL21R):c.1105C>T (p.Arg369Trp)	IL21R, IL21R-AS1 (R369W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1503090	NM_181078.3(IL21R):c.1003C>A (p.Gln335Lys)	IL21R, IL21R-AS1 +1 more (Q357K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1497077	NM_181078.3(IL21R):c.942G>A (p.Leu314=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1489492	NM_181078.3(IL21R):c.1028C>G (p.Ser343Cys)	IL21R, IL21R-AS1 +1 more (S365C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1478986	NM_181078.3(IL21R):c.995C>T (p.Thr332Met)	IL21R, IL21R-AS1 +1 more (T332M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1478917	NM_181078.3(IL21R):c.974C>T (p.Pro325Leu)	IL21R, IL21R-AS1 (P325L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1477954	NM_181078.3(IL21R):c.1189G>T (p.Asp397Tyr)	IL21R, IL21R-AS1 (D397Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1472526	NM_181078.3(IL21R):c.1487G>T (p.Gly496Val)	IL21R, IL21R-AS1 +1 more (G496V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1450976	NM_181078.3(IL21R):c.1610C>T (p.Ala537Val)	IL21R, IL21R-AS1 (A537V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1434385	NM_181078.3(IL21R):c.1192G>A (p.Gly398Ser)	IL21R, IL21R-AS1 (G398S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1425251	NM_181078.3(IL21R):c.1073C>T (p.Ser358Leu)	IL21R, IL21R-AS1 (S358L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1387608	NM_181078.3(IL21R):c.1321C>T (p.Pro441Ser)	IL21R, IL21R-AS1 (P441S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1376180	NM_181078.3(IL21R):c.1124C>T (p.Ser375Phe)	IL21R, IL21R-AS1 (S375F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1369729	NM_181078.3(IL21R):c.1403G>A (p.Arg468Gln)	IL21R, IL21R-AS1 +1 more (R468Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1357191	NM_181078.3(IL21R):c.980A>C (p.Lys327Thr)	IL21R, IL21R-AS1 +1 more (K349T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1288842	NM_181078.3(IL21R):c.868-222G>A	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1278126	NM_181078.3(IL21R):c.*293G>A	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1166203	NM_181078.3(IL21R):c.1527C>T (p.Ser509=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GBenign
Select item 1157209	NM_181078.3(IL21R):c.1479C>T (p.Gly493=)	IL21R-AS1, LOC130058713 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1147316	NM_181078.3(IL21R):c.1017G>A (p.Glu339=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1145181	NM_181078.3(IL21R):c.1419C>T (p.Val473=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1144057	NM_181078.3(IL21R):c.1557C>T (p.Tyr519=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1141234	NM_181078.3(IL21R):c.1266G>C (p.Gly422=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1137660	NM_181078.3(IL21R):c.1275C>G (p.Val425=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1121833	NM_181078.3(IL21R):c.1593G>A (p.Ser531=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1100251	NM_181078.3(IL21R):c.1143G>C (p.Val381=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1079615	NM_181078.3(IL21R):c.1236A>C (p.Pro412=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1078006	NM_181078.3(IL21R):c.1548C>A (p.Pro516=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1053038	NM_181078.3(IL21R):c.972C>A (p.Ser324Arg)	IL21R, IL21R-AS1 (S324R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1051891	NM_181078.3(IL21R):c.1058C>T (p.Pro353Leu)	IL21R, IL21R-AS1 (P353L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1045085	NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser)	IL21R, IL21R-AS1 +1 more (P451S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1038846	NM_181078.3(IL21R):c.1243G>C (p.Glu415Gln)	IL21R, IL21R-AS1 (E415Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1038095	NM_181078.3(IL21R):c.1364A>T (p.Asp455Val)	IL21R, IL21R-AS1 +1 more (D455V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1032884	NM_181078.3(IL21R):c.1286G>C (p.Gly429Ala)	IL21R, IL21R-AS1 (G429A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1025748	NM_181078.3(IL21R):c.1412G>C (p.Gly471Ala)	IL21R, IL21R-AS1 +1 more (G471A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1020118	NM_181078.3(IL21R):c.977C>T (p.Ala326Val)	IL21R, IL21R-AS1 (A326V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1018723	NM_181078.3(IL21R):c.1057C>T (p.Pro353Ser)	IL21R, IL21R-AS1 (P353S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 999813	NM_181078.3(IL21R):c.1178G>C (p.Ser393Thr)	IL21R, IL21R-AS1 (S393T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 993982	NM_181078.3(IL21R):c.-17+585C>T	IL21R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 2