50615[geneid] - 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 1247564	NM_181078.3(IL21R):c.-17+400T>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233904	NM_181078.3(IL21R):c.-17+439T>G	IL21R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 626116	NM_181078.3(IL21R):c.-17+563G>A	IL21R (R4H)	Single nucleotide variant (missense variant +1 more)	IgE responsiveness, atopic +2 more	GConflicting classifications of pathogenicity
Select item 1711403	NM_181078.3(IL21R):c.-17+566G>A	IL21R (C5Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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
Select item 1241251	NM_181078.3(IL21R):c.-16-94A>G	IL21R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 579926	NM_181078.3(IL21R):c.3_4delinsAA (p.Met1_Pro2delinsIleThr)	IL21R	Indel (missense variant +1 more)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1410612	NM_181078.3(IL21R):c.7C>T (p.Arg3Cys)	IL21R (R25C +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 844210	NM_181078.3(IL21R):c.8G>A (p.Arg3His)	IL21R (R25H +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 1027286	NM_181078.3(IL21R):c.17C>T (p.Ala6Val)	IL21R (A28V +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 724364	NM_181078.3(IL21R):c.18C>T (p.Ala6=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 540994	NM_181078.3(IL21R):c.19G>A (p.Ala7Thr)	IL21R (A7T +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1010394	NM_181078.3(IL21R):c.20C>G (p.Ala7Gly)	IL21R (A29G +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GUncertain significance
Select item 1102212	NM_181078.3(IL21R):c.24C>T (p.Pro8=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 1374358	NM_181078.3(IL21R):c.27G>T (p.Leu9Phe)	IL21R (L9F +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 760808	NM_181078.3(IL21R):c.39G>A (p.Leu13=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1469696	NM_181078.3(IL21R):c.48A>G (p.Gly16=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 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 1242635	NM_181078.3(IL21R):c.50-308G>C	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
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 1989935	NM_181078.3(IL21R):c.50-16C>A	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1587789	NM_181078.3(IL21R):c.50-16C>T	IL21R	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1998198	NM_181078.3(IL21R):c.50-4C>T	IL21R	Single nucleotide variant (intron variant)	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 1106636	NM_181078.3(IL21R):c.63C>T (p.Pro21=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 944831	NM_181078.3(IL21R):c.64G>A (p.Asp22Asn)	IL21R (D22N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1412255	NM_181078.3(IL21R):c.67C>T (p.Leu23Phe)	IL21R (L23F +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1160156	NM_181078.3(IL21R):c.69C>T (p.Leu23=)	IL21R	Single nucleotide variant (synonymous 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 933918	NM_181078.3(IL21R):c.70G>T (p.Val24Phe)	IL21R (V46F +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GUncertain significance
Select item 766735	NM_181078.3(IL21R):c.72C>T (p.Val24=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 846065	NM_181078.3(IL21R):c.76T>C (p.Tyr26His)	IL21R (Y26H +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1544153	NM_181078.3(IL21R):c.81C>T (p.Thr27=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 758356	NM_181078.3(IL21R):c.90C>T (p.Leu30=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1062118	NM_181078.3(IL21R):c.95C>T (p.Thr32Met)	IL21R (T32M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 798127	NM_181078.3(IL21R):c.96G>C (p.Thr32=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 764403	NM_181078.3(IL21R):c.96G>A (p.Thr32=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1316094	NM_181078.3(IL21R):c.107T>A (p.Ile36Asn)	IL21R (I36N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374627	NM_181078.3(IL21R):c.117G>A (p.Met39Ile)	IL21R (M61I +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 1529982	NM_181078.3(IL21R):c.126C>T (p.Leu42=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1448846	NM_181078.3(IL21R):c.128A>C (p.His43Pro)	IL21R (H43P +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 402977	NM_181078.3(IL21R):c.137C>T (p.Thr46Met)	IL21R (T68M +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 541002	NM_181078.3(IL21R):c.138G>A (p.Thr46=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 661937	NM_181078.3(IL21R):c.139C>T (p.Leu47Phe)	IL21R (L69F +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 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 1657646	NM_181078.3(IL21R):c.144C>T (p.Thr48=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1001818	NM_181078.3(IL21R):c.149C>G (p.Thr50Ser)	IL21R (T50S +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1093060	NM_181078.3(IL21R):c.152+7_152+23del	IL21R	Deletion (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1573565	NM_181078.3(IL21R):c.152+10C>A	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1152925	NM_181078.3(IL21R):c.152+10C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1546128	NM_181078.3(IL21R):c.152+11G>A	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1539006	NM_181078.3(IL21R):c.152+11G>C	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 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 1223406	NM_181078.3(IL21R):c.152+284C>T	IL21R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1624273	NM_181078.3(IL21R):c.153-20C>T	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1168887	NM_181078.3(IL21R):c.153-19G>A	IL21R	Single nucleotide variant (intron variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GBenign
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 972533	NM_181078.3(IL21R):c.181G>A (p.Glu61Lys)	IL21R (E61K +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1010685	NM_181078.3(IL21R):c.191C>T (p.Ser64Phe)	IL21R (S64F +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 856086	NM_181078.3(IL21R):c.209C>T (p.Ser70Leu)	IL21R (S92L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1529528	NM_181078.3(IL21R):c.213C>T (p.Ala71=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 1419197	NM_181078.3(IL21R):c.224C>T (p.Thr75Met)	IL21R (T97M +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
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 42199	NM_181078.3(IL21R):c.241_246del (p.Cys81_His82del)	IL21R	Deletion (inframe_deletion)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GPathogenic
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 1655622	NM_181078.3(IL21R):c.252T>C (p.Asp84=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 837276	NM_181078.3(IL21R):c.257T>A (p.Phe86Tyr)	IL21R (F108Y +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GUncertain significance
Select item 856792	NM_181078.3(IL21R):c.260A>G (p.His87Arg)	IL21R (H87R +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GUncertain significance
Select item 763128	NM_181078.3(IL21R):c.270C>T (p.Ala90=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 758216	NM_181078.3(IL21R):c.273C>T (p.Asp91=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
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 1471657	NM_181078.3(IL21R):c.314A>C (p.Tyr105Ser)	IL21R (Y105S +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 1473558	NM_181078.3(IL21R):c.334T>C (p.Phe112Leu)	IL21R (F112L +1 more)	Single nucleotide variant (missense variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GUncertain significance
Select item 723913	NM_181078.3(IL21R):c.339C>T (p.Leu113=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome +1 more	GLikely benign
Select item 1557203	NM_181078.3(IL21R):c.348G>A (p.Glu116=)	IL21R	Single nucleotide variant (synonymous variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely benign
Select item 973584	NM_181078.3(IL21R):c.352+1G>C	IL21R	Single nucleotide variant (splice donor variant)	Cryptosporidiosis-chronic cholangitis-liver disease syndrome	GLikely pathogenic
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 1595341	NM_181078.3(IL21R):c.352+16C>T	IL21R	Single nucleotide variant (intron variant)	not provided +1 more	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

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