3588[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 317

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 402970	NM_001289125.3(IFNAR2):c.841-220G>A	IFNAR2, IFNAR2-IL10RB +1 more (A285T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 339688	NM_000628.5(IL10RB):c.-94C>A	IL10RB, IFNAR2-IL10RB +1 more	Single nucleotide variant (5 prime UTR variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 339689	NM_000628.5(IL10RB):c.-74C>A	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (5 prime UTR variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 339690	NM_000628.5(IL10RB):c.-72C>A	LOC130066558, IFNAR2-IL10RB +1 more	Single nucleotide variant (5 prime UTR variant)	Inflammatory bowel disease 25 +1 more	GLikely benign
Select item 899242	NM_000628.5(IL10RB):c.-66A>T	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (5 prime UTR variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 469406	NC_000021.8:g.(?_34638751)_(34668714_?)dup	LOC130066559, LOC130066560 +3 more	Duplication	Inflammatory bowel disease 25	GUncertain significance
Select item 2135051	NM_000628.5(IL10RB):c.1A>T (p.Met1Leu)	IFNAR2-IL10RB, IL10RB +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 25	GUncertain significance
Select item 1467066	NM_000628.5(IL10RB):c.1A>C (p.Met1Leu)	IFNAR2-IL10RB, IL10RB +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 25	GUncertain significance
Select item 2094746	NM_000628.5(IL10RB):c.5C>T (p.Ala2Val)	IFNAR2-IL10RB, IL10RB +1 more (A2V)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 2664350	NM_000628.5(IL10RB):c.25_43del (p.Leu9fs)	IFNAR2-IL10RB, IL10RB +1 more (L9fs)	Deletion (frameshift variant +2 more)	Inflammatory bowel disease 25	GLikely pathogenic
Select item 948708	NM_000628.5(IL10RB):c.20G>A (p.Ser7Asn)	IFNAR2-IL10RB, IL10RB +1 more (S7N)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1089915	NM_000628.5(IL10RB):c.21C>T (p.Ser7=)	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2303032	NM_000628.5(IL10RB):c.24G>T (p.Trp8Cys)	IFNAR2-IL10RB, IL10RB +1 more (W8C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1044440	NM_000628.5(IL10RB):c.25C>T (p.Leu9=)	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2893118	NM_000628.5(IL10RB):c.27G>A (p.Leu9=)	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease 25	GLikely benign
Select item 1672252	NM_000628.5(IL10RB):c.27G>C (p.Leu9=)	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2087685	NM_000628.5(IL10RB):c.29G>C (p.Gly10Ala)	IFNAR2-IL10RB, IL10RB +1 more (G10A)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1431865	NM_000628.5(IL10RB):c.35G>A (p.Cys12Tyr)	IFNAR2-IL10RB, IL10RB +1 more (C12Y)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1643363	NM_000628.5(IL10RB):c.39G>A (p.Leu13=)	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2717297	NM_000628.5(IL10RB):c.40C>T (p.Leu14=)	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease 25	GLikely benign
Select item 1066682	NM_000628.5(IL10RB):c.49+2T>G	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant +1 more)	Inflammatory bowel disease 25	GLikely pathogenic
Select item 1450597	NM_000628.5(IL10RB):c.49+5G>A	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1110578	NM_000628.5(IL10RB):c.49+8G>T	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1598270	NM_000628.5(IL10RB):c.49+12G>A	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1923430	NM_000628.5(IL10RB):c.49+19G>A	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1556184	NM_000628.5(IL10RB):c.49+19G>T	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2628110	NM_000628.5(IL10RB):c.49+40G>A	IFNAR2-IL10RB, IL10RB +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2156380	NM_000628.5(IL10RB):c.50-20T>C	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1988129	NM_000628.5(IL10RB):c.50-15G>A	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 537185	NM_000628.5(IL10RB):c.50-4A>G	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2013502	NM_000628.5(IL10RB):c.51A>G (p.Ala17=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 25	GLikely benign
Select item 2958017	NM_000628.5(IL10RB):c.52T>C (p.Leu18=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 25	GLikely benign
Select item 636551	NM_000628.5(IL10RB):c.53del (p.Leu18fs)	IFNAR2-IL10RB, IL10RB (L18fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1995647	NM_000628.5(IL10RB):c.60G>A (p.Met20Ile)	IL10RB, IFNAR2-IL10RB (M240I +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 25	GUncertain significance
Select item 1081607	NM_000628.5(IL10RB):c.72C>T (p.Pro24=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 339691	NM_000628.5(IL10RB):c.73G>A (p.Glu25Lys)	IFNAR2-IL10RB, IL10RB (E25K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 847957	NM_000628.5(IL10RB):c.79G>C (p.Val27Leu)	IFNAR2-IL10RB, IL10RB (V27L)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1423543	NM_000628.5(IL10RB):c.85A>G (p.Met29Val)	IFNAR2-IL10RB, IL10RB (M29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1026087	NM_000628.5(IL10RB):c.91T>A (p.Ser31Thr)	IFNAR2-IL10RB, IL10RB (S31T)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1358744	NM_000628.5(IL10RB):c.107A>C (p.Asn36Thr)	IFNAR2-IL10RB, IL10RB (N36T)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 2069918	NM_000628.5(IL10RB):c.116A>G (p.Gln39Arg)	IFNAR2-IL10RB, IL10RB (Q39R +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 25	GUncertain significance
Select item 836516	NM_000628.5(IL10RB):c.120G>A (p.Trp40Ter)	IFNAR2-IL10RB, IL10RB (W40*)	Single nucleotide variant (nonsense)	Inflammatory bowel disease 25	GPathogenic
Select item 1417875	NM_000628.5(IL10RB):c.122A>G (p.Glu41Gly)	IFNAR2-IL10RB, IL10RB (E41G)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 759801	NM_000628.5(IL10RB):c.123G>A (p.Glu41=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25 +1 more	GLikely benign
Select item 1693767	NM_000628.5(IL10RB):c.130G>A (p.Ala44Thr)	IFNAR2-IL10RB, IL10RB (A44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339692	NM_000628.5(IL10RB):c.131C>T (p.Ala44Val)	IFNAR2-IL10RB, IL10RB (A44V)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GBenign/Likely benign
Select item 1108468	NM_000628.5(IL10RB):c.132T>A (p.Ala44=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2083967	NM_000628.5(IL10RB):c.138C>T (p.Ala46=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 25	GLikely benign
Select item 756819	NM_000628.5(IL10RB):c.138_139inv (p.Lys47Glu)	IFNAR2-IL10RB, IL10RB (K47E)	Inversion (missense variant)	Inflammatory bowel disease 25	GLikely benign
Select item 16923	NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu)	IFNAR2-IL10RB, IL10RB (K47E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2958691	NM_000628.5(IL10RB):c.144G>A (p.Gly48=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 25	GLikely benign
Select item 1162107	NM_000628.5(IL10RB):c.144G>C (p.Gly48=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1143075	NM_000628.5(IL10RB):c.147C>T (p.Asn49=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2427923	NM_000628.5(IL10RB):c.150G>A (p.Leu50=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 25	GLikely benign
Select item 842870	NM_000628.5(IL10RB):c.157A>C (p.Thr53Pro)	IFNAR2-IL10RB, IL10RB (T53P)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 3285724	NM_000628.5(IL10RB):c.164A>G (p.Gln55Arg)	IFNAR2-IL10RB, IL10RB (Q55R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1066486	NM_000628.5(IL10RB):c.173+2T>G	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (splice donor variant)	Inflammatory bowel disease 25	GPathogenic/Likely pathogenic
Select item 1167890	NM_000628.5(IL10RB):c.173+19T>C	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GBenign
Select item 1564750	NM_000628.5(IL10RB):c.174-18A>G	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1567448	NM_000628.5(IL10RB):c.174-14T>C	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GLikely benign
Select item 339693	NM_000628.5(IL10RB):c.174-14T>G	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (intron variant)	Inflammatory bowel disease 25	GConflicting classifications of pathogenicity
Select item 2699058	NM_000628.5(IL10RB):c.174-1G>A	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (splice acceptor variant)	Inflammatory bowel disease 25	GLikely pathogenic
Select item 1096805	NM_000628.5(IL10RB):c.177T>C (p.Tyr59=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 2060034	NM_000628.5(IL10RB):c.179G>C (p.Arg60Thr)	IFNAR2-IL10RB, IL10RB (R280T +1 more)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1435912	NM_000628.5(IL10RB):c.194A>G (p.Lys65Arg)	IFNAR2-IL10RB, IL10RB (K65R)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1966309	NM_000628.5(IL10RB):c.203A>T (p.Asn68Ile)	IFNAR2-IL10RB, IL10RB (N288I +1 more)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance
Select item 1420692	NM_000628.5(IL10RB):c.207T>C (p.Thr69=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 740152	NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)	IFNAR2-IL10RB, IL10RB (T72M)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GConflicting classifications of pathogenicity
Select item 756028	NM_000628.5(IL10RB):c.259T>C (p.Leu87=)	IFNAR2-IL10RB, IL10RB	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease 25	GLikely benign
Select item 1490134	NM_000628.5(IL10RB):c.274G>C (p.Glu92Gln)	IFNAR2-IL10RB, IL10RB (E92Q)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 25	GUncertain significance

<< First< Prev

Page of 4