NFKBIE[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 2279623	NM_004556.3(NFKBIE):c.806T>C (p.Leu269Pro)	NFKBIE (L269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273468	NM_004556.3(NFKBIE):c.631C>T (p.Arg211Trp)	NFKBIE (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247621	NM_004556.3(NFKBIE):c.587G>A (p.Cys196Tyr)	NFKBIE (C196Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198071	NM_004556.3(NFKBIE):c.556C>T (p.Arg186Trp)	NFKBIE (R186W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198067	NM_004556.3(NFKBIE):c.542G>C (p.Arg181Pro)	NFKBIE (R181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299545	NM_004556.3(NFKBIE):c.503C>T (p.Pro168Leu)	NFKBIE (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723585	NM_004556.3(NFKBIE):c.351C>T (p.Ser117=)	NFKBIE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3257791	NM_004556.3(NFKBIE):c.342_345del (p.Tyr115fs)	NFKBIE (Y115fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 2205156	NM_004556.3(NFKBIE):c.260G>T (p.Gly87Val)	NFKBIE (G87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587937	NM_004556.3(NFKBIE):c.254T>C (p.Leu85Pro)	NFKBIE (L85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477203	NM_004556.3(NFKBIE):c.195T>A (p.Asp65Glu)	NFKBIE (D65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198053	NM_004556.3(NFKBIE):c.168G>T (p.Lys56Asn)	NFKBIE (K56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362227	NM_004556.3(NFKBIE):c.11C>T (p.Ala4Val)	NFKBIE (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198046	NM_004556.3(NFKBIE):c.-12A>G	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2508955	NM_004556.3(NFKBIE):c.-27G>C	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2477202	NM_004556.3(NFKBIE):c.-53G>A	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3198041	NM_004556.3(NFKBIE):c.-54A>C	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3198035	NM_004556.3(NFKBIE):c.-68A>T	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2402115	NM_004556.3(NFKBIE):c.-152C>T	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3299543	NM_004556.3(NFKBIE):c.-180G>C	NFKBIE	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2312526	NM_004556.2(NFKBIE):c.202C>T (p.Arg68Trp)	NFKBIE (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398373	NM_004556.2(NFKBIE):c.151C>G (p.Pro51Ala)	NFKBIE (P51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310098	NM_004556.2(NFKBIE):c.140G>A (p.Arg47His)	NFKBIE (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405688	NM_004556.2(NFKBIE):c.110G>C (p.Arg37Pro)	NFKBIE (R37P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024940	NM_004556.2(NFKBIE):c.98C>T (p.Ser33Phe)	NFKBIE (S33F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299544	NM_004556.2(NFKBIE):c.82G>A (p.Gly28Arg)	NFKBIE (G28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271548	NM_004556.2(NFKBIE):c.67A>C (p.Lys23Gln)	NFKBIE (K23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206788	NM_004556.2(NFKBIE):c.34A>G (p.Asn12Asp)	NFKBIE (N12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 39