ClinVar for Gene (Select 4798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299560	NM_001143835.2(NFRKB):c.1364C>T (p.Thr455Ile)	NFRKB (T455I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299559	NM_001143835.2(NFRKB):c.2921C>T (p.Pro974Leu)	NFRKB (P999L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299558	NM_001143835.2(NFRKB):c.3479C>G (p.Pro1160Arg)	NFRKB (P1160R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299557	NM_001143835.2(NFRKB):c.1069G>A (p.Ala357Thr)	NFRKB (A357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299556	NM_001143835.2(NFRKB):c.2371G>T (p.Ala791Ser)	NFRKB (A791S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299555	NM_001143835.2(NFRKB):c.1375A>G (p.Lys459Glu)	NFRKB (K459E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299554	NM_001143835.2(NFRKB):c.2618G>A (p.Gly873Glu)	NFRKB (G873E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299553	NM_001143835.2(NFRKB):c.2869C>T (p.Pro957Ser)	NFRKB (P957S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299551	NM_001143835.2(NFRKB):c.700C>T (p.Arg234Trp)	NFRKB (R234W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299550	NM_001143835.2(NFRKB):c.40C>T (p.Leu14Phe)	NFRKB (L27F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198417	NM_001143835.2(NFRKB):c.854A>G (p.Asn285Ser)	NFRKB (N285S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198408	NM_001143835.2(NFRKB):c.793C>G (p.His265Asp)	NFRKB (H265D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198403	NM_001143835.2(NFRKB):c.772A>G (p.Lys258Glu)	NFRKB (K258E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198399	NM_001143835.2(NFRKB):c.535C>T (p.Arg179Cys)	NFRKB (R179C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198389	NM_001143835.2(NFRKB):c.3824C>G (p.Ser1275Cys)	NFRKB (S1300C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198384	NM_001143835.2(NFRKB):c.3779G>A (p.Arg1260His)	NFRKB (R1285H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198368	NM_001143835.2(NFRKB):c.3475G>T (p.Ala1159Ser)	NFRKB (A1159S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198348	NM_001143835.2(NFRKB):c.3095C>T (p.Pro1032Leu)	NFRKB (P1032L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198347	NM_001143835.2(NFRKB):c.3033C>G (p.His1011Gln)	NFRKB (H1036Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198342	NM_001143835.2(NFRKB):c.2926A>G (p.Met976Val)	NFRKB (M1001V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198338	NM_001143835.2(NFRKB):c.2837G>A (p.Arg946His)	NFRKB (R971H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198327	NM_001143835.2(NFRKB):c.2572G>A (p.Val858Ile)	NFRKB (V858I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198293	NM_001143835.2(NFRKB):c.2323A>G (p.Met775Val)	NFRKB (M800V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198288	NM_001143835.2(NFRKB):c.2216C>T (p.Pro739Leu)	NFRKB (P764L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198276	NM_001143835.2(NFRKB):c.1708C>T (p.Arg570Cys)	NFRKB (R570C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198265	NM_001143835.2(NFRKB):c.1512A>G (p.Val504=)	NFRKB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3198253	NM_001143835.2(NFRKB):c.1235C>G (p.Ser412Cys)	LOC124625870, NFRKB (S412C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198242	NM_001143835.2(NFRKB):c.1108C>A (p.Leu370Ile)	NFRKB (L370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642543	NM_001143835.2(NFRKB):c.2580G>T (p.Ala860=)	NFRKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615804	NM_001143835.2(NFRKB):c.1117A>G (p.Asn373Asp)	NFRKB (N398D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603670	NM_001143835.2(NFRKB):c.2276C>T (p.Ser759Leu)	NFRKB (S784L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601123	NM_001143835.2(NFRKB):c.2207C>T (p.Ser736Phe)	NFRKB (S736F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588684	NM_001143835.2(NFRKB):c.290A>G (p.Asn97Ser)	NFRKB (N97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569191	NM_001143835.2(NFRKB):c.47C>T (p.Pro16Leu)	NFRKB (P29L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542696	NM_001143835.2(NFRKB):c.1309G>C (p.Glu437Gln)	LOC124625870, NFRKB (E462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541894	NM_001143835.2(NFRKB):c.1158C>G (p.Ile386Met)	NFRKB (I411M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528584	NM_001143835.2(NFRKB):c.1576C>T (p.Arg526Cys)	NFRKB (R551C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524943	NM_001143835.2(NFRKB):c.3348G>A (p.Ser1116=)	NFRKB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2507617	NM_001143835.2(NFRKB):c.200G>A (p.Arg67His)	NFRKB (R67H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2494772	NM_001143835.2(NFRKB):c.3626A>G (p.Asn1209Ser)	NFRKB (N1234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491336	NM_001143835.2(NFRKB):c.3217G>A (p.Gly1073Arg)	NFRKB (G1073R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475200	NM_001143835.2(NFRKB):c.2417G>A (p.Arg806Gln)	NFRKB (R806Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462357	NM_001143835.2(NFRKB):c.494G>T (p.Gly165Val)	NFRKB (G165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457146	NM_001143835.2(NFRKB):c.1541C>T (p.Thr514Met)	NFRKB (T514M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406496	NM_001143835.2(NFRKB):c.3484G>A (p.Val1162Met)	NFRKB (V1162M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405047	NM_001143835.2(NFRKB):c.2360C>A (p.Ser787Tyr)	NFRKB (S787Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398661	NM_001143835.2(NFRKB):c.2375G>A (p.Arg792Gln)	NFRKB (R817Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397950	NM_001143835.2(NFRKB):c.1211A>G (p.Asp404Gly)	LOC124625870, NFRKB (D404G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394193	NM_001143835.2(NFRKB):c.1344T>G (p.Phe448Leu)	NFRKB (F448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387511	NM_001143835.2(NFRKB):c.783A>T (p.Leu261Phe)	NFRKB (L286F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384327	NM_001143835.2(NFRKB):c.2459C>T (p.Ser820Leu)	NFRKB (S820L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378626	NM_001143835.2(NFRKB):c.492T>G (p.Ser164Arg)	NFRKB (S177R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378138	NM_001143835.2(NFRKB):c.3310A>G (p.Thr1104Ala)	NFRKB (T1104A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365027	NM_001143835.2(NFRKB):c.2380G>A (p.Val794Met)	NFRKB (V794M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365012	NM_001143835.2(NFRKB):c.1616G>A (p.Arg539His)	NFRKB (R539H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347589	NM_001143835.2(NFRKB):c.3169G>A (p.Ala1057Thr)	NFRKB (A1082T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335560	NM_001143835.2(NFRKB):c.874A>G (p.Asn292Asp)	NFRKB (N317D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331829	NM_001143835.2(NFRKB):c.1007C>T (p.Pro336Leu)	NFRKB (P336L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330736	NM_001143835.2(NFRKB):c.3661A>G (p.Ile1221Val)	NFRKB (I1246V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319499	NM_001143835.2(NFRKB):c.2588C>T (p.Thr863Met)	NFRKB (T888M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2307678	NM_001143835.2(NFRKB):c.3368C>A (p.Thr1123Asn)	NFRKB (T1148N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295858	NM_001143835.2(NFRKB):c.3628C>T (p.Leu1210Phe)	NFRKB (L1235F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291188	NM_001143835.2(NFRKB):c.2115G>C (p.Gln705His)	NFRKB (Q705H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279212	NM_001143835.2(NFRKB):c.1714G>A (p.Asp572Asn)	NFRKB (D597N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278065	NM_001143835.2(NFRKB):c.2449C>A (p.Pro817Thr)	NFRKB (P817T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262107	NM_001143835.2(NFRKB):c.1001C>A (p.Ala334Asp)	NFRKB (A359D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261449	NM_001143835.2(NFRKB):c.2663C>T (p.Pro888Leu)	NFRKB (P888L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255034	NM_001143835.2(NFRKB):c.520C>T (p.Arg174Cys)	NFRKB (R174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254520	NM_001143835.2(NFRKB):c.68C>T (p.Thr23Met)	NFRKB (T23M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253569	NM_001143835.2(NFRKB):c.1228G>A (p.Ala410Thr)	LOC124625870, NFRKB (A435T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248764	NM_001143835.2(NFRKB):c.1027G>A (p.Val343Ile)	NFRKB (V343I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244894	NM_001143835.2(NFRKB):c.706G>A (p.Val236Met)	NFRKB (V261M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240326	NM_001143835.2(NFRKB):c.536G>A (p.Arg179His)	NFRKB (R192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238373	NM_001143835.2(NFRKB):c.2008G>A (p.Ala670Thr)	NFRKB (A670T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237753	NM_001143835.2(NFRKB):c.824C>T (p.Pro275Leu)	NFRKB (P275L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211864	NM_001143835.2(NFRKB):c.929A>T (p.Lys310Ile)	NFRKB (K335I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209022	NM_001143835.2(NFRKB):c.3583A>T (p.Met1195Leu)	NFRKB (M1220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206543	NM_001143835.2(NFRKB):c.2443G>C (p.Ala815Pro)	NFRKB (A840P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204847	NM_001143835.2(NFRKB):c.2405T>C (p.Leu802Pro)	NFRKB (L802P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 979329	GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	ETS1, GLB1L3 +30 more	Copy number loss	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic

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