ClinVar for Gene (Select 3455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
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 3108286	NM_001289125.3(IFNAR2):c.1444C>T (p.Pro482Ser)	IFNAR2, IFNAR2-IL10RB (P482S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3108285	NM_001289125.3(IFNAR2):c.1324G>A (p.Asp442Asn)	IFNAR2, IFNAR2-IL10RB (D442N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	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 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3050340	NM_001289125.3(IFNAR2):c.838T>C (p.Leu280=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant +1 more)	IFNAR2-related disorder	GLikely benign
Select item 3029025	NM_001289125.3(IFNAR2):c.960T>C (p.Asp320=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	IFNAR2-related disorder	GLikely benign
Select item 3017968	NM_001289125.3(IFNAR2):c.1084C>T (p.Pro362Ser)	IFNAR2, IFNAR2-IL10RB (P362S)	Single nucleotide variant (3 prime UTR variant +2 more)	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 3002751	NM_001289125.3(IFNAR2):c.1422G>C (p.Gly474=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 2995472	NM_001289125.3(IFNAR2):c.1473C>T (p.Ser491=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	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 2984969	NM_001289125.3(IFNAR2):c.354G>A (p.Thr118=)	IFNAR2-IL10RB, IFNAR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984466	NM_001289125.3(IFNAR2):c.762A>G (p.Ala254=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant +1 more)	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 2974810	NM_001289125.3(IFNAR2):c.166T>C (p.Leu56=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2970889	NM_001289125.3(IFNAR2):c.621T>C (p.Cys207=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous 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 2966547	NM_001289125.3(IFNAR2):c.774A>G (p.Thr258=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964504	NM_001289125.3(IFNAR2):c.333A>G (p.Glu111=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961449	NM_001289125.3(IFNAR2):c.1091C>G (p.Ser364Cys)	IFNAR2, IFNAR2-IL10RB (S364C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2954679	NM_001289125.3(IFNAR2):c.1230C>T (p.Asp410=)	IFNAR2-IL10RB, IFNAR2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2902965	NM_001289125.3(IFNAR2):c.848A>G (p.His283Arg)	IFNAR2, IFNAR2-IL10RB (H283R)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2898548	NM_001289125.3(IFNAR2):c.402T>C (p.Phe134=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892874	NM_001289125.3(IFNAR2):c.822T>C (p.Asn274=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887583	NM_001289125.3(IFNAR2):c.1008C>T (p.Gly336=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2878206	NM_001289125.3(IFNAR2):c.1123G>A (p.Val375Met)	IFNAR2, IFNAR2-IL10RB (V375M)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2878128	NM_001289125.3(IFNAR2):c.394del (p.Met132fs)	IFNAR2, IFNAR2-IL10RB (M132fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2876801	NM_001289125.3(IFNAR2):c.841-10T>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2874747	NM_001289125.3(IFNAR2):c.1054G>A (p.Ala352Thr)	IFNAR2, IFNAR2-IL10RB (A352T)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2867111	NM_001289125.3(IFNAR2):c.626_627del (p.Ser209fs)	IFNAR2, IFNAR2-IL10RB (S209fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2858060	NM_001289125.3(IFNAR2):c.1158G>A (p.Gln386=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2854366	NM_001289125.3(IFNAR2):c.1167A>G (p.Glu389=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2849943	NM_001289125.3(IFNAR2):c.1350G>C (p.Ser450=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2847928	NM_001289125.3(IFNAR2):c.503_504del (p.Leu168fs)	IFNAR2, IFNAR2-IL10RB (L168fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2837493	NM_001289125.3(IFNAR2):c.814T>C (p.Leu272=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801506	NM_001289125.3(IFNAR2):c.1236C>T (p.Ser412=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 2797134	NM_001289125.3(IFNAR2):c.1023A>G (p.Gly341=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	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 2764880	NM_001289125.3(IFNAR2):c.840+21_840+30del	IFNAR2, IFNAR2-IL10RB	Microsatellite (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 2688253	NM_001289125.3(IFNAR2):c.841-33C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 2688182	NM_001289125.3(IFNAR2):c.841-290C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688036	NM_001289125.3(IFNAR2):c.841-44dup	IFNAR2, IFNAR2-IL10RB	Duplication (3 prime UTR variant +1 more)	not specified	GBenign
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2628358	NM_001289125.3(IFNAR2):c.98-43T>A	IFNAR2-IL10RB, IFNAR2	Single nucleotide variant (intron variant)	Associated with severe COVID-19 disease	GUncertain significance
Select item 2628357	NM_001289125.3(IFNAR2):c.28T>A (p.Phe10Ile)	IFNAR2-IL10RB, IFNAR2 (F10I)	Single nucleotide variant (missense variant)	Associated with severe COVID-19 disease	GUncertain significance
Select item 2539731	NM_001289125.3(IFNAR2):c.584A>G (p.Tyr195Cys)	IFNAR2, IFNAR2-IL10RB (Y195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482620	NM_001289125.3(IFNAR2):c.581C>T (p.Thr194Ile)	IFNAR2, IFNAR2-IL10RB (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428767	NM_001289125.3(IFNAR2):c.689T>C (p.Leu230Pro)	IFNAR2, IFNAR2-IL10RB (L230P)	Single nucleotide variant (missense variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2428356	NM_001289125.3(IFNAR2):c.1122T>C (p.Asp374=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2427782	NC_000021.8:g.(?_34614228)_(34614302_?)del	IFNAR2	Deletion	not provided	GPathogenic
Select item 2427781	NC_000021.8:g.(?_34614228)_(34635805_?)del	IFNAR2	Deletion	not provided	GPathogenic
Select item 2419319	NM_001289125.3(IFNAR2):c.712T>C (p.Ser238Pro)	IFNAR2, IFNAR2-IL10RB (S238P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416461	NM_001289125.3(IFNAR2):c.1464C>T (p.Gly488=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2360086	NM_001289125.3(IFNAR2):c.823A>T (p.Ser275Cys)	IFNAR2, IFNAR2-IL10RB (S275C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352179	NM_001289125.3(IFNAR2):c.1222G>A (p.Glu408Lys)	IFNAR2, IFNAR2-IL10RB (E408K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2309542	NM_001289125.3(IFNAR2):c.1281A>T (p.Leu427Phe)	IFNAR2, IFNAR2-IL10RB (L427F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2225345	NM_001289125.3(IFNAR2):c.760G>A (p.Ala254Thr)	IFNAR2, IFNAR2-IL10RB (A254T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212332	NM_001289125.3(IFNAR2):c.442A>G (p.Ile148Val)	IFNAR2-IL10RB, IFNAR2 (I148V)	Single nucleotide variant (missense variant)	not specified	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 2190847	NM_001289125.3(IFNAR2):c.1310A>G (p.Asp437Gly)	IFNAR2, IFNAR2-IL10RB (D437G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2184999	NM_001289125.3(IFNAR2):c.395-1G>A	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2170351	NM_001289125.3(IFNAR2):c.39T>G (p.Leu13=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132857	NM_001289125.3(IFNAR2):c.840+20del	IFNAR2, IFNAR2-IL10RB	Deletion (intron variant)	not provided	GBenign
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 2114832	NM_001289125.3(IFNAR2):c.655G>A (p.Ala219Thr)	IFNAR2, IFNAR2-IL10RB (A219T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092146	NM_001289125.3(IFNAR2):c.525G>A (p.Glu175=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087810	NM_001289125.3(IFNAR2):c.1445C>A (p.Pro482His)	IFNAR2, IFNAR2-IL10RB (P482H)	Single nucleotide variant (3 prime UTR variant +2 more)	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 2077236	NM_001289125.3(IFNAR2):c.93G>A (p.Ser31=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071866	NM_001289125.3(IFNAR2):c.549C>T (p.Pro183=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070100	NM_001289125.3(IFNAR2):c.407C>T (p.Pro136Leu)	IFNAR2, IFNAR2-IL10RB (P136L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058676	NM_001289125.3(IFNAR2):c.1441T>A (p.Phe481Ile)	IFNAR2, IFNAR2-IL10RB (F481I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2049516	NM_001289125.3(IFNAR2):c.937G>C (p.Val313Leu)	IFNAR2, IFNAR2-IL10RB (V313L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2043451	NM_001289125.3(IFNAR2):c.586A>G (p.Ile196Val)	IFNAR2, IFNAR2-IL10RB (I196V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2038138	NM_001289125.3(IFNAR2):c.1372G>A (p.Asp458Asn)	IFNAR2, IFNAR2-IL10RB (D458N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 2029989	NM_001289125.3(IFNAR2):c.98-18T>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029162	NM_001289125.3(IFNAR2):c.1146G>A (p.Lys382=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2026489	NM_001289125.3(IFNAR2):c.1318A>G (p.Ser440Gly)	IFNAR2, IFNAR2-IL10RB (M440V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2023451	NM_001289125.3(IFNAR2):c.342C>T (p.Ser114=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2001232	NM_001289125.3(IFNAR2):c.1440C>T (p.Thr480=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 1994009	NM_001289125.3(IFNAR2):c.709+5G>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1992124	NM_001289125.3(IFNAR2):c.1411C>A (p.Leu471Met)	IFNAR2, IFNAR2-IL10RB (L471M)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1989324	NM_001289125.3(IFNAR2):c.406C>T (p.Pro136Ser)	IFNAR2, IFNAR2-IL10RB (P136S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1979115	NM_001289125.3(IFNAR2):c.576T>C (p.Asn192=)	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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