IL21R-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
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 647042	NM_181078.3(IL21R):c.875T>C (p.Val292Ala)	IL21R, IL21R-AS1 (V292A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 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 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 843570	NM_181078.3(IL21R):c.910G>T (p.Gly304Ter)	IL21R, IL21R-AS1 (G304* +1 more)	Single nucleotide variant (nonsense +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 947096	NM_181078.3(IL21R):c.934T>C (p.Ser312Pro)	IL21R, IL21R-AS1 (S312P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 858243	NM_181078.3(IL21R):c.937A>G (p.Thr313Ala)	IL21R, IL21R-AS1 (T313A +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 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 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 541000	NM_181078.3(IL21R):c.954C>G (p.Ser318Arg)	IL21R, IL21R-AS1 (S340R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GBenign
Select item 754916	NM_181078.3(IL21R):c.957C>T (p.Cys319=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 651217	NM_181078.3(IL21R):c.962C>A (p.Pro321Gln)	IL21R, IL21R-AS1 (P343Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 645716	NM_181078.3(IL21R):c.968G>A (p.Arg323Gln)	IL21R, IL21R-AS1 (R323Q +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 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 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 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 848737	NM_181078.3(IL21R):c.976G>A (p.Ala326Thr)	IL21R, IL21R-AS1 (A348T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	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 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 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 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 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 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 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 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 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 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 844604	NM_181078.3(IL21R):c.1013C>T (p.Ala338Val)	IL21R, IL21R-AS1 +1 more (A338V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 862054	NM_181078.3(IL21R):c.1021G>A (p.Val341Met)	IL21R, IL21R-AS1 +1 more (V341M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 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 473941	NM_181078.3(IL21R):c.1032C>T (p.Asp344=)	IL21R, IL21R-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 225037	NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)	IL21R-AS1, LOC130058712 +1 more (G367S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 835456	NM_181078.3(IL21R):c.1034G>A (p.Gly345Asp)	IL21R, IL21R-AS1 +1 more (G367D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GUncertain significance
Select item 652882	NM_181078.3(IL21R):c.1040C>T (p.Pro347Leu)	IL21R, IL21R-AS1 (P369L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 450009	NM_181078.3(IL21R):c.1048A>G (p.Ser350Gly)	IL21R, IL21R-AS1 (S350G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 661497	NM_181078.3(IL21R):c.1049G>A (p.Ser350Asn)	IL21R, IL21R-AS1 (S372N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 948002	NM_181078.3(IL21R):c.1050C>A (p.Ser350Arg)	IL21R, IL21R-AS1 (S350R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	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 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 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 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 964238	NM_181078.3(IL21R):c.1064C>A (p.Ala355Asp)	IL21R, IL21R-AS1 (A355D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 942699	NM_181078.3(IL21R):c.1071C>A (p.Asn357Lys)	IL21R, IL21R-AS1 (N379K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	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 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 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 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 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 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 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 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 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 724865	NM_181078.3(IL21R):c.1113C>T (p.Tyr371=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 953995	NM_181078.3(IL21R):c.1121T>C (p.Val374Ala)	IL21R, IL21R-AS1 (V396A +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 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 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 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 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 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 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 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 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 640700	NM_181078.3(IL21R):c.1178G>T (p.Ser393Ile)	IL21R, IL21R-AS1 (S393I +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 763734	NM_181078.3(IL21R):c.1191C>T (p.Asp397=)	IL21R, IL21R-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 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 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 576216	NM_181078.3(IL21R):c.1225_1226delinsAC (p.Glu409Thr)	IL21R, IL21R-AS1 (E431T +1 more)	Indel (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 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 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 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 949469	NM_181078.3(IL21R):c.1277T>C (p.Leu426Pro)	IL21R, IL21R-AS1 (L426P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 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 956545	NM_181078.3(IL21R):c.1316G>A (p.Gly439Glu)	IL21R, IL21R-AS1 (G439E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 658708	NM_181078.3(IL21R):c.1316G>C (p.Gly439Ala)	IL21R, IL21R-AS1 (G461A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	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 960631	NM_181078.3(IL21R):c.1321C>A (p.Pro441Thr)	IL21R, IL21R-AS1 (P463T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance

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