ClinVar for Gene (Select 50615) - ClinVar - NCBI

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	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 3285831	NM_181078.3(IL21R):c.364C>G (p.Pro122Ala)	IL21R (P122A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285830	NM_181078.3(IL21R):c.712C>G (p.Leu238Val)	IL21R (L260V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3109307	NM_181078.3(IL21R):c.509G>A (p.Ser170Asn)	IL21R (S170N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109305	NM_181078.3(IL21R):c.303G>C (p.Gln101His)	IL21R (Q101H +1 more)	Single nucleotide variant (missense variant)	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 3063434	GRCh37/hg19 16p12.1(chr16:25900524-27489837)x3	C16orf82, GTF3C1 +5 more	Copy number gain	not specified	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 3021124	NM_181078.3(IL21R):c.867+10C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 3017382	NM_181078.3(IL21R):c.375C>T (p.Asn125=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2977013	NM_181078.3(IL21R):c.786-8C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	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 2920331	NM_181078.3(IL21R):c.50-18T>C	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2915049	NM_181078.3(IL21R):c.786-5C>A	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2900027	NM_181078.3(IL21R):c.680C>T (p.Ser227Leu)	IL21R (S227L +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2871643	NM_181078.3(IL21R):c.352+20A>C	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2861477	NM_181078.3(IL21R):c.756C>T (p.Phe252=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2845418	NM_181078.3(IL21R):c.776del (p.Pro259fs)	IL21R (P281fs +1 more)	Deletion (frameshift variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2833738	NM_181078.3(IL21R):c.246C>T (p.His82=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 2796762	NM_181078.3(IL21R):c.152+20C>G	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2796757	NM_181078.3(IL21R):c.152+18_152+19del	IL21R	Deletion (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2790707	NM_181078.3(IL21R):c.205A>C (p.Arg69=)	IL21R	Single nucleotide variant (synonymous variant)	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 2779572	NM_181078.3(IL21R):c.853A>C (p.Ser285Arg)	IL21R (S285R +1 more)	Single nucleotide variant (missense variant)	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 2768037	NM_181078.3(IL21R):c.352+18C>T	IL21R	Single nucleotide variant (intron variant)	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 2758352	NM_181078.3(IL21R):c.352+9C>G	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 2756648	NM_181078.3(IL21R):c.62C>T (p.Pro21Leu)	IL21R (P21L +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2740711	NM_181078.3(IL21R):c.867+16T>C	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2739049	NM_181078.3(IL21R):c.786-6C>G	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2731308	NM_181078.3(IL21R):c.786-18C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2730751	NM_181078.3(IL21R):c.225G>A (p.Thr75=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2727524	NM_181078.3(IL21R):c.798G>A (p.Lys266=)	IL21R	Single nucleotide variant (synonymous variant)	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 2700415	NM_181078.3(IL21R):c.465G>A (p.Gln155=)	IL21R	Single nucleotide variant (synonymous variant)	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 2646340	NM_181078.3(IL21R):c.82G>A (p.Asp28Asn)	IL21R (D28N +1 more)	Single nucleotide variant (missense variant)	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 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2558367	NM_181078.3(IL21R):c.271G>A (p.Asp91Asn)	IL21R (D91N +1 more)	Single nucleotide variant (missense variant)	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 2494321	NM_181078.3(IL21R):c.851G>A (p.Cys284Tyr)	IL21R (C306Y +1 more)	Single nucleotide variant (missense variant)	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 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2416330	NM_181078.3(IL21R):c.686-17C>A	IL21R	Single nucleotide variant (intron variant)	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 2324655	NM_181078.3(IL21R):c.788T>G (p.Leu263Arg)	IL21R (L263R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301974	NM_181078.3(IL21R):c.617C>A (p.Pro206His)	IL21R (P206H +1 more)	Single nucleotide variant (missense variant)	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 2190809	NM_181078.3(IL21R):c.376G>A (p.Val126Met)	IL21R (V126M +1 more)	Single nucleotide variant (missense variant)	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 2186668	NM_181078.3(IL21R):c.141C>A (p.Leu47=)	IL21R	Single nucleotide variant (synonymous variant)	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 2174707	NM_181078.3(IL21R):c.210G>A (p.Ser70=)	IL21R	Single nucleotide variant (synonymous variant)	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 2164066	NM_181078.3(IL21R):c.786-25_786-19del	IL21R	Deletion (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2163248	NM_181078.3(IL21R):c.433C>A (p.Pro145Thr)	IL21R (P167T +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2161515	NM_181078.3(IL21R):c.180C>T (p.Asp60=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2160729	NM_181078.3(IL21R):c.557T>C (p.Leu186Pro)	IL21R (L186P +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2158329	NM_181078.3(IL21R):c.561C>T (p.Pro187=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2147013	NM_181078.3(IL21R):c.49+15C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2146124	NM_181078.3(IL21R):c.70G>A (p.Val24Ile)	IL21R (V24I +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2140952	NM_181078.3(IL21R):c.49+16G>A	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2135393	NM_181078.3(IL21R):c.10G>A (p.Gly4Ser)	IL21R (G26S +1 more)	Single nucleotide variant (missense variant)	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 2128971	NM_181078.3(IL21R):c.835C>A (p.Pro279Thr)	IL21R (P279T +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2123873	NM_181078.3(IL21R):c.553C>T (p.Leu185Phe)	IL21R (L185F +1 more)	Single nucleotide variant (missense variant)	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 2116861	NM_181078.3(IL21R):c.787C>A (p.Leu263Ile)	IL21R (L285I +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 2108869	NM_181078.3(IL21R):c.558C>T (p.Leu186=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2106971	NM_181078.3(IL21R):c.121A>G (p.Asn41Asp)	IL21R (N41D +1 more)	Single nucleotide variant (missense variant)	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 2105229	NM_181078.3(IL21R):c.27dup (p.Leu10fs)	IL21R (L10fs +1 more)	Duplication (frameshift variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GPathogenic
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 2102056	NM_181078.3(IL21R):c.143C>A (p.Thr48Asn)	IL21R (T70N +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 2071561	NM_181078.3(IL21R):c.359C>T (p.Pro120Leu)	IL21R (P120L +1 more)	Single nucleotide variant (missense variant)	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 2055571	NM_181078.3(IL21R):c.741C>G (p.Val247=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2053574	NM_181078.3(IL21R):c.468T>A (p.Tyr156Ter)	IL21R (Y156* +1 more)	Single nucleotide variant (nonsense)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GPathogenic
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 2035190	NM_181078.3(IL21R):c.353-18C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 2029831	NM_181078.3(IL21R):c.714G>A (p.Leu238=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign

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