5433[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 335

<< 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 1684584	NM_001289125.3(IFNAR2):c.-83-4640G>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	Mortality risk in patients with severe coronavirus disease (COVID-19) +1 more	GUncertain significance; association
Select item 1979539	NM_001289125.3(IFNAR2):c.14A>G (p.Gln5Arg)	IFNAR2, IFNAR2-IL10RB (Q5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7288	NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)	IFNAR2, IFNAR2-IL10RB (F8S)	Single nucleotide variant (missense variant)	Immunodeficiency 45 +2 more	GBenign
Select item 1444810	NM_001289125.3(IFNAR2):c.27C>G (p.Ile9Met)	IFNAR2-IL10RB, IFNAR2 (I9M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2628357	NM_001289125.3(IFNAR2):c.28T>A (p.Phe10Ile)	IFNAR2, IFNAR2-IL10RB (F10I)	Single nucleotide variant (missense variant)	Associated with severe COVID-19 disease	GUncertain significance
Select item 1170800	NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)	IFNAR2, IFNAR2-IL10RB (F10V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3285366	NM_001289125.3(IFNAR2):c.32G>C (p.Arg11Thr)	IFNAR2, IFNAR2-IL10RB (R11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1716801	NM_001289125.3(IFNAR2):c.33A>T (p.Arg11Ser)	IFNAR2, IFNAR2-IL10RB (R11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192148	NM_001289125.3(IFNAR2):c.36A>G (p.Ser12=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606032	NM_001289125.3(IFNAR2):c.36A>T (p.Ser12=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170351	NM_001289125.3(IFNAR2):c.39T>G (p.Leu13=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425448	NM_001289125.3(IFNAR2):c.44T>G (p.Leu15Trp)	IFNAR2, IFNAR2-IL10RB (L15W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014073	NM_001289125.3(IFNAR2):c.53T>C (p.Met18Thr)	IFNAR2, IFNAR2-IL10RB (M18T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011143	NM_001289125.3(IFNAR2):c.55+10G>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619185	NM_001289125.3(IFNAR2):c.55+10G>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795057	NM_001289125.3(IFNAR2):c.55+11C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957175	NM_001289125.3(IFNAR2):c.55+17A>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606184	NM_001289125.3(IFNAR2):c.55+17A>G	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694431	NM_001289125.3(IFNAR2):c.55+18T>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975598	NM_001289125.3(IFNAR2):c.55+19C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543588	NM_001289125.3(IFNAR2):c.56-16G>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920972	NM_001289125.3(IFNAR2):c.59A>G (p.Tyr20Cys)	IFNAR2-IL10RB, IFNAR2 (Y20C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437130	NM_001289125.3(IFNAR2):c.65G>T (p.Ser22Ile)	IFNAR2, IFNAR2-IL10RB (S22I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1665398	NM_001289125.3(IFNAR2):c.66C>T (p.Ser22=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180042	NM_001289125.3(IFNAR2):c.69C>T (p.Leu23=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394635	NM_001289125.3(IFNAR2):c.70G>A (p.Val24Met)	IFNAR2, IFNAR2-IL10RB (V24M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1949396	NM_001289125.3(IFNAR2):c.87T>C (p.Tyr29=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364274	NM_001289125.3(IFNAR2):c.90T>G (p.Asp30Glu)	IFNAR2, IFNAR2-IL10RB (D30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463467	NM_001289125.3(IFNAR2):c.92C>G (p.Ser31Trp)	IFNAR2, IFNAR2-IL10RB (S31W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077236	NM_001289125.3(IFNAR2):c.93G>A (p.Ser31=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630618	NM_001289125.3(IFNAR2):c.97+19C>T	IFNAR2-IL10RB, IFNAR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628358	NM_001289125.3(IFNAR2):c.98-43T>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	Associated with severe COVID-19 disease	GUncertain significance
Select item 1684582	NM_001289125.3(IFNAR2):c.98-43T>C	IFNAR2-IL10RB, IFNAR2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1932067	NM_001289125.3(IFNAR2):c.98-20C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029989	NM_001289125.3(IFNAR2):c.98-18T>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165436	NM_001289125.3(IFNAR2):c.98-16TTC[2]	IFNAR2, IFNAR2-IL10RB	Microsatellite (intron variant)	not provided	GBenign
Select item 1972206	NM_001289125.3(IFNAR2):c.98-11C>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969390	NM_001289125.3(IFNAR2):c.102C>T (p.Tyr34=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475937	NM_001289125.3(IFNAR2):c.109G>C (p.Glu37Gln)	IFNAR2, IFNAR2-IL10RB (E37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509792	NM_001289125.3(IFNAR2):c.117C>A (p.Cys39Ter)	IFNAR2, IFNAR2-IL10RB (C39*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1913560	NM_001289125.3(IFNAR2):c.122T>C (p.Phe41Ser)	IFNAR2, IFNAR2-IL10RB (F41S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1438104	NM_001289125.3(IFNAR2):c.127A>T (p.Ile43Leu)	IFNAR2-IL10RB, IFNAR2 (I43L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2033549	NM_001289125.3(IFNAR2):c.128T>C (p.Ile43Thr)	IFNAR2, IFNAR2-IL10RB (I43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605571	NM_001289125.3(IFNAR2):c.132A>G (p.Ser44=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929034	NM_001289125.3(IFNAR2):c.136C>T (p.Arg46Ter)	IFNAR2, IFNAR2-IL10RB (R46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1424260	NM_001289125.3(IFNAR2):c.146G>A (p.Arg49Gln)	IFNAR2, IFNAR2-IL10RB (R49Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068469	NM_001289125.3(IFNAR2):c.158_160del (p.Ser53del)	IFNAR2, IFNAR2-IL10RB (S53del)	Deletion (inframe_deletion)	Immunodeficiency 45	GUncertain significance
Select item 994273	NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)	IFNAR2, IFNAR2-IL10RB (S53P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2974810	NM_001289125.3(IFNAR2):c.166T>C (p.Leu56=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005430	NM_001289125.3(IFNAR2):c.175C>T (p.His59Tyr)	IFNAR2, IFNAR2-IL10RB (H59Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797353	NM_001289125.3(IFNAR2):c.183T>A (p.Ile61=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518033	NM_001289125.3(IFNAR2):c.194A>C (p.His65Pro)	IFNAR2, IFNAR2-IL10RB (H65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3108287	NM_001289125.3(IFNAR2):c.197A>G (p.Tyr66Cys)	IFNAR2, IFNAR2-IL10RB (Y66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1955105	NM_001289125.3(IFNAR2):c.199A>G (p.Thr67Ala)	IFNAR2, IFNAR2-IL10RB (T67A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424948	NM_001289125.3(IFNAR2):c.200C>T (p.Thr67Ile)	IFNAR2, IFNAR2-IL10RB (T67I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086139	NM_001289125.3(IFNAR2):c.207G>A (p.Leu69=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440396	NM_001289125.3(IFNAR2):c.217A>G (p.Met73Val)	IFNAR2, IFNAR2-IL10RB (M73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479817	NM_001289125.3(IFNAR2):c.221+2T>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2128158	NM_001289125.3(IFNAR2):c.221+5G>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2973435	NM_001289125.3(IFNAR2):c.221+20T>G	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643297	NM_001289125.3(IFNAR2):c.222-18A>G	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992944	NM_001289125.3(IFNAR2):c.228A>T (p.Pro76=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 977219	NM_207585.3(IFNAR2):c.236del (p.Asp78_Leu79insTer)	IFNAR2, IFNAR2-IL10RB	Deletion	not provided +1 more	GPathogenic
Select item 1935358	NM_001289125.3(IFNAR2):c.263C>T (p.Thr88Ile)	IFNAR2, IFNAR2-IL10RB (T88I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897898	NM_001289125.3(IFNAR2):c.268A>G (p.Arg90Gly)	IFNAR2, IFNAR2-IL10RB (R90G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2997597	NM_001289125.3(IFNAR2):c.309C>G (p.His103Gln)	IFNAR2, IFNAR2-IL10RB (H103Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492083	NM_001289125.3(IFNAR2):c.310G>A (p.Glu104Lys)	IFNAR2, IFNAR2-IL10RB (E104K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218160	NM_001289125.3(IFNAR2):c.311del (p.Glu104fs)	IFNAR2, IFNAR2-IL10RB (E104fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1995080	NM_001289125.3(IFNAR2):c.312G>C (p.Glu104Asp)	IFNAR2, IFNAR2-IL10RB (E104D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666437	NM_001289125.3(IFNAR2):c.312G>A (p.Glu104=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 4