FBXL8[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 2215564	NM_018378.3(FBXL8):c.10C>G (p.Pro4Ala)	FBXL8 (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273512	NM_018378.3(FBXL8):c.58C>G (p.Leu20Val)	FBXL8 (L20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594879	NM_018378.3(FBXL8):c.130G>A (p.Val44Met)	FBXL8 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093569	NM_018378.3(FBXL8):c.160T>C (p.Cys54Arg)	FBXL8 (C54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281598	NM_018378.3(FBXL8):c.263C>A (p.Ala88Glu)	FBXL8 (A88E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093570	NM_018378.3(FBXL8):c.302C>T (p.Pro101Leu)	FBXL8 (P101L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569043	NM_018378.3(FBXL8):c.313G>A (p.Gly105Ser)	FBXL8 (G105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471315	NM_018378.3(FBXL8):c.367G>A (p.Val123Ile)	FBXL8 (V123I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093571	NM_018378.3(FBXL8):c.428G>A (p.Arg143Gln)	FBXL8 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247279	NM_018378.3(FBXL8):c.467A>C (p.Gln156Pro)	FBXL8 (Q156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535388	NM_018378.3(FBXL8):c.538C>G (p.Pro180Ala)	FBXL8 (P180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334227	NM_018378.3(FBXL8):c.577C>G (p.Leu193Val)	FBXL8 (L193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204918	NM_018378.3(FBXL8):c.598C>G (p.Leu200Val)	FBXL8 (L200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093572	NM_018378.3(FBXL8):c.601G>C (p.Ala201Pro)	FBXL8 (A201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224953	NM_018378.3(FBXL8):c.611C>T (p.Ser204Leu)	FBXL8 (S204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294116	NM_018378.3(FBXL8):c.653C>T (p.Pro218Leu)	FBXL8 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597556	NM_018378.3(FBXL8):c.657C>A (p.Phe219Leu)	FBXL8 (F219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232233	NM_018378.3(FBXL8):c.682T>G (p.Cys228Gly)	FBXL8 (C228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 320162	NM_018378.3(FBXL8):c.711G>A (p.Leu237=)	FBXL8, HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GBenign
Select item 884526	NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp)	FBXL8, HSF4 (E240D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2363191	NM_018378.3(FBXL8):c.746A>G (p.His249Arg)	FBXL8 (H249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 320163	NM_018378.3(FBXL8):c.775G>C (p.Glu259Gln)	FBXL8, HSF4 (E259Q)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 885460	NM_018378.3(FBXL8):c.781G>C (p.Ala261Pro)	FBXL8, HSF4 (A261P)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2603842	NM_018378.3(FBXL8):c.782C>A (p.Ala261Glu)	FBXL8 (A261E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 320164	NM_018378.3(FBXL8):c.807_808dup (p.Val270fs)	FBXL8, HSF4 (V270fs)	Microsatellite (frameshift variant)	Cataract	GLikely benign
Select item 2231206	NM_018378.3(FBXL8):c.806G>A (p.Arg269His)	FBXL8 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 885461	NM_018378.3(FBXL8):c.822C>T (p.Ala274=)	FBXL8, HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GUncertain significance
Select item 320165	NM_018378.3(FBXL8):c.823G>A (p.Val275Ile)	FBXL8, HSF4 (V275I)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 885462	NM_018378.3(FBXL8):c.883G>T (p.Ala295Ser)	FBXL8, HSF4 (A295S)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 320166	NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys)	FBXL8, HSF4 (Y299C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2234794	NM_018378.3(FBXL8):c.905C>T (p.Thr302Ile)	FBXL8 (T302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339476	NM_018378.3(FBXL8):c.1027G>C (p.Val343Leu)	FBXL8 (V343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 320167	NM_018378.3(FBXL8):c.1033G>C (p.Asp345His)	FBXL8, HSF4 (D345H)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 320168	NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys)	FBXL8, HSF4 (E364K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GBenign
Select item 3047298	NM_018378.3(FBXL8):c.*191C>G	FBXL8, HSF4	Single nucleotide variant (3 prime UTR variant +1 more)	FBXL8-related disorder	GLikely benign
Select item 320169	NM_018378.3(FBXL8):c.*248A>G	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GUncertain significance
Select item 886482	NM_018378.3(FBXL8):c.*277C>T	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GLikely benign
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71