NFRKB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 2524943	NM_001143835.2(NFRKB):c.3348G>A (p.Ser1116=)	NFRKB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 2642543	NM_001143835.2(NFRKB):c.2580G>T (p.Ala860=)	NFRKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3198265	NM_001143835.2(NFRKB):c.1512A>G (p.Val504=)	NFRKB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3198408	NM_001143835.2(NFRKB):c.793C>G (p.His265Asp)	NFRKB (H265D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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