FBXO28[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 57169	GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1	CNIH3, CNIH3-AS1 +43 more	Copy number loss	See cases	GUncertain significance
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 3040966	NM_015176.4(FBXO28):c.-1G>C	FBXO28, LOC129932579	Single nucleotide variant (5 prime UTR variant +1 more)	FBXO28-related disorder	GLikely benign
Select item 2584666	NM_015176.4(FBXO28):c.13_14delinsAA (p.Ala5Lys)	FBXO28, LOC129932579 (A5K)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy 100	GUncertain significance
Select item 2639923	NM_015176.4(FBXO28):c.14C>G (p.Ala5Gly)	FBXO28, LOC129932579 (A5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633683	NM_015176.4(FBXO28):c.20A>T (p.Glu7Val)	FBXO28, LOC129932579 (E7V)	Single nucleotide variant (missense variant +1 more)	FBXO28-related disorder	GUncertain significance
Select item 2639924	NM_015176.4(FBXO28):c.22C>A (p.Arg8=)	FBXO28, LOC129932579	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3368496	NM_015176.4(FBXO28):c.44_55del (p.Gly15_Gly18del)	FBXO28, LOC129932579	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3093646	NM_015176.4(FBXO28):c.44G>C (p.Gly15Ala)	FBXO28, LOC129932579 (G15A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635112	NM_015176.4(FBXO28):c.62G>A (p.Gly21Asp)	FBXO28 (G21D)	Single nucleotide variant (missense variant +1 more)	FBXO28-related disorder	GUncertain significance
Select item 2516007	NM_015176.4(FBXO28):c.86C>G (p.Thr29Ser)	FBXO28 (T29S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1199198	NM_015176.4(FBXO28):c.97C>T (p.Pro33Ser)	FBXO28 (P33S)	Single nucleotide variant (missense variant +1 more)	FBXO28-related developmental and epileptic encephalopathy	GUncertain significance
Select item 3344532	NM_015176.4(FBXO28):c.107C>G (p.Pro36Arg)	FBXO28 (P36R)	Single nucleotide variant (missense variant +1 more)	FBXO28-related disorder	GUncertain significance
Select item 1343397	NM_015176.4(FBXO28):c.191T>G (p.Leu64Arg)	FBXO28 (L64R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 3278118	NM_015176.4(FBXO28):c.222C>A (p.Asn74Lys)	FBXO28 (N74K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326242	NM_015176.4(FBXO28):c.251T>C (p.Ile84Thr)	FBXO28 (I84T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3093645	NM_015176.4(FBXO28):c.258G>C (p.Gln86His)	FBXO28 (Q86H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619041	NM_015176.4(FBXO28):c.398A>G (p.Asn133Ser)	FBXO28 (N133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061245	NM_015176.4(FBXO28):c.516+4A>T	FBXO28	Single nucleotide variant (intron variant)	FBXO28-related disorder	GUncertain significance
Select item 2639925	NM_015176.4(FBXO28):c.536G>A (p.Arg179His)	FBXO28 (R179H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3370009	NM_015176.4(FBXO28):c.549T>A (p.Tyr183Ter)	FBXO28 (Y183*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 3044320	NM_015176.4(FBXO28):c.553A>G (p.Asn185Asp)	FBXO28 (N185D)	Single nucleotide variant (missense variant +2 more)	FBXO28-related disorder	GUncertain significance
Select item 2371444	NM_015176.4(FBXO28):c.554A>G (p.Asn185Ser)	FBXO28 (N185S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3093648	NM_015176.4(FBXO28):c.569C>T (p.Pro190Leu)	FBXO28 (P190L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3364445	NM_015176.4(FBXO28):c.622A>G (p.Met208Val)	FBXO28 (M208V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2639926	NM_015176.4(FBXO28):c.643A>G (p.Ile215Val)	FBXO28 (I215V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1679625	NM_015176.4(FBXO28):c.703T>C (p.Ser235Pro)	FBXO28 (S235P)	Single nucleotide variant (missense variant +2 more)	FBXO28-associated epileptic encephalopathy	GUncertain significance
Select item 2375918	NM_015176.4(FBXO28):c.704C>G (p.Ser235Cys)	FBXO28 (S235C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3048245	NM_015176.4(FBXO28):c.709C>T (p.Pro237Ser)	FBXO28 (P237S)	Single nucleotide variant (missense variant +2 more)	FBXO28-related disorder	GLikely benign
Select item 2592995	NM_015176.4(FBXO28):c.726T>C (p.Ser242=)	FBXO28 (L177P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3366226	NM_015176.4(FBXO28):c.733C>G (p.Leu245Val)	FBXO28 (L245V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3093649	NM_015176.4(FBXO28):c.832C>A (p.Leu278Ile)	FBXO28 (L278I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2477889	NM_015176.4(FBXO28):c.839G>A (p.Arg280His)	FBXO28 (R280H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3278119	NM_015176.4(FBXO28):c.856C>T (p.Arg286Cys)	FBXO28 (R286C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1343396	NM_015176.4(FBXO28):c.972_973delinsG (p.Arg325fs)	FBXO28 (R325fs)	Indel (3 prime UTR variant +2 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 2361514	NM_015176.4(FBXO28):c.1010G>A (p.Gly337Glu)	FBXO28 (G337E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2570696	NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs)	FBXO28 (G339fs)	Indel (3 prime UTR variant +2 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 2582151	NM_015176.4(FBXO28):c.1033C>T (p.Pro345Ser)	FBXO28 (P345S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1343398	NM_015176.4(FBXO28):c.1042C>G (p.Arg348Gly)	FBXO28 (R348G)	Single nucleotide variant (3 prime UTR variant +2 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 521663	NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu)	FBXO28 (R348L)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2639927	NM_015176.4(FBXO28):c.1056G>C (p.Thr352=)	FBXO28	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1343400	NM_015176.4(FBXO28):c.1066_1067del (p.Asp356fs)	FBXO28 (D356fs)	Deletion (3 prime UTR variant +2 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 1335014	NM_015176.4(FBXO28):c.1073_1074del (p.Leu358fs)	FBXO28 (L358fs)	Deletion (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1343401	NM_015176.4(FBXO28):c.1078A>T (p.Lys360Ter)	FBXO28 (K360*)	Single nucleotide variant (3 prime UTR variant +2 more)	Developmental and epileptic encephalopathy 100	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	CCDC185, CNIH4 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 688083	GRCh37/hg19 1q42.11(chr1:224333044-224384942)x1	DEGS1, FBXO28	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625540	GRCh37/hg19 1q42.11-42.12(chr1:224340881-225147932)	CNIH3, CNIH4 +5 more	Copy number loss	not provided	GPathogenic
Select item 565230	GRCh37/hg19 1q42.11(chr1:224346184-224409144)x1	FBXO28, DEGS1	Copy number loss	not provided	GUncertain significance
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 82