IFNAR1[gene] - ClinVar - NCBI

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	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 2128848	NM_000629.3(IFNAR1):c.10G>A (p.Val4Ile)	LOC119230225, IFNAR1 (V4I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1917845	NM_000629.3(IFNAR1):c.14T>G (p.Leu5Arg)	IFNAR1, LOC119230225 (L5R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2802682	NM_000629.3(IFNAR1):c.15C>A (p.Leu5=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1632806	NM_000629.3(IFNAR1):c.16C>T (p.Leu6=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1497945	NM_000629.3(IFNAR1):c.17T>C (p.Leu6Pro)	IFNAR1, LOC119230225 (L6P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2985054	NM_000629.3(IFNAR1):c.18G>A (p.Leu6=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1979265	NM_000629.3(IFNAR1):c.21C>T (p.Gly7=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2011494	NM_000629.3(IFNAR1):c.24G>A (p.Ala8=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2050663	NM_000629.3(IFNAR1):c.27del (p.Thr10fs)	IFNAR1, LOC119230225 (T10fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1410801	NM_000629.3(IFNAR1):c.28A>G (p.Thr10Ala)	IFNAR1, LOC119230225 (T10A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1431666	NM_000629.3(IFNAR1):c.31C>G (p.Leu11Val)	IFNAR1, LOC119230225 (L11V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1590102	NM_000629.3(IFNAR1):c.36G>C (p.Val12=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130060	NM_000629.3(IFNAR1):c.36G>A (p.Val12=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1494355	NM_000629.3(IFNAR1):c.46G>A (p.Val16Met)	IFNAR1, LOC119230225 (V16M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2021058	NM_000629.3(IFNAR1):c.50C>T (p.Ala17Val)	IFNAR1, LOC119230225 (A17V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1354650	NM_000629.3(IFNAR1):c.55T>G (p.Trp19Gly)	IFNAR1, LOC119230225 (W19G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2700396	NM_000629.3(IFNAR1):c.64T>G (p.Ser22Ala)	IFNAR1, LOC119230225 (S22A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1420808	NM_000629.3(IFNAR1):c.65CCGCAG[1] (p.Ala24_Ala25del)	IFNAR1, LOC119230225	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2193122	NM_000629.3(IFNAR1):c.69A>G (p.Ala23=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2742719	NM_000629.3(IFNAR1):c.72C>T (p.Ala24=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1614318	NM_000629.3(IFNAR1):c.76+7G>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100522	NM_000629.3(IFNAR1):c.76+9C>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870907	NM_000629.3(IFNAR1):c.76+10G>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688073	NM_000629.3(IFNAR1):c.77-22T>G	IFNAR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2713151	NM_000629.3(IFNAR1):c.77-9C>T	IFNAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123867	NM_000629.3(IFNAR1):c.84A>G (p.Lys28=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1467748	NM_000629.3(IFNAR1):c.86A>G (p.Asn29Ser)	IFNAR1 (N29S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932077	NM_000629.3(IFNAR1):c.93A>C (p.Lys31Asn)	IFNAR1 (K31N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991649	NM_000629.3(IFNAR1):c.100C>T (p.Gln34Ter)	IFNAR1 (Q34*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1478473	NM_000629.3(IFNAR1):c.102A>G (p.Gln34=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968348	NM_000629.3(IFNAR1):c.114C>T (p.Val38=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1006414	NM_000629.3(IFNAR1):c.115G>A (p.Asp39Asn)	IFNAR1 (D39N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2234802	NM_000629.3(IFNAR1):c.128A>G (p.Asp43Gly)	IFNAR1 (D43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1404568	NM_000629.3(IFNAR1):c.130A>C (p.Asn44His)	IFNAR1 (N44H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2428780	NM_000629.3(IFNAR1):c.131A>C (p.Asn44Thr)	IFNAR1 (N44T)	Single nucleotide variant (missense variant +1 more)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 1508375	NM_000629.3(IFNAR1):c.131A>G (p.Asn44Ser)	IFNAR1 (N44S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1667152	NM_000629.3(IFNAR1):c.132C>T (p.Asn44=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727949	NM_000629.3(IFNAR1):c.141G>C (p.Leu47=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1412746	NM_000629.3(IFNAR1):c.157G>A (p.Asp53Asn)	IFNAR1 (D53N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1567811	NM_000629.3(IFNAR1):c.168C>T (p.Val56=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431648	NM_000629.3(IFNAR1):c.169G>A (p.Gly57Arg)	IFNAR1 (G57R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2070005	NM_000629.3(IFNAR1):c.181T>G (p.Phe61Val)	IFNAR1 (F61V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 715750	NM_000629.3(IFNAR1):c.189C>T (p.Phe63=)	IFNAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1398350	NM_000629.3(IFNAR1):c.190G>A (p.Asp64Asn)	IFNAR1 (D64N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1361002	NM_000629.3(IFNAR1):c.190G>T (p.Asp64Tyr)	IFNAR1 (D64Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2114900	NM_000629.3(IFNAR1):c.193T>C (p.Tyr65His)	IFNAR1 (Y65H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1481917	NM_000629.3(IFNAR1):c.200+2del	IFNAR1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1900213	NM_000629.3(IFNAR1):c.200+5G>T	IFNAR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1557379	NM_000629.3(IFNAR1):c.200+11C>G	IFNAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688255	NM_000629.3(IFNAR1):c.200+108A>G	IFNAR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1652344	NM_000629.3(IFNAR1):c.201-22_201-19del	IFNAR1	Deletion (intron variant)	not provided	GBenign
Select item 1997025	NM_000629.3(IFNAR1):c.201-19T>C	IFNAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657736	NM_000629.3(IFNAR1):c.201-10dup	IFNAR1	Duplication (intron variant)	not provided	GBenign
Select item 1538833	NM_000629.3(IFNAR1):c.201-18del	IFNAR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2025023	NM_000629.3(IFNAR1):c.201-12T>A	IFNAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899110	NM_000629.3(IFNAR1):c.205G>C (p.Gly69Arg)	IFNAR1 (G69R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1713674	NM_000629.3(IFNAR1):c.206G>A (p.Gly69Glu)	IFNAR1 (G69E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1410722	NM_000629.3(IFNAR1):c.211G>T (p.Asp71Tyr)	IFNAR1 (D2Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 778906	NM_000629.3(IFNAR1):c.213T>C (p.Asp71=)	IFNAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3108279	NM_000629.3(IFNAR1):c.218G>C (p.Trp73Ser)	IFNAR1 (W4S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1929813	NM_000629.3(IFNAR1):c.219G>C (p.Trp73Cys)	IFNAR1 (W4C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2720948	NM_000629.3(IFNAR1):c.222A>C (p.Ile74=)	IFNAR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2767189	NM_000629.3(IFNAR1):c.227dup (p.Leu76fs)	IFNAR1 (L76fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1387079	NM_000629.3(IFNAR1):c.235T>C (p.Cys79Arg)	IFNAR1 (C79R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2025845	NM_000629.3(IFNAR1):c.252dup (p.Thr85fs)	IFNAR1 (T85fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2535337	NM_000629.3(IFNAR1):c.272C>T (p.Ser91Leu)	IFNAR1 (S22L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1525268	NM_000629.3(IFNAR1):c.278A>G (p.Lys93Arg)	IFNAR1 (K93R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1061428	NM_000629.3(IFNAR1):c.284A>G (p.Asn95Ser)	IFNAR1 (N26S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1947226	NM_000629.3(IFNAR1):c.285T>C (p.Asn95=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1503232	NM_000629.3(IFNAR1):c.286G>T (p.Val96Phe)	IFNAR1 (V96F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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