FBXO28[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 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	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 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	LOC129932930, LOC129932931 +967 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	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 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	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 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 condition	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 condition	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 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 condition	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 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 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 condition	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 3044320	NM_015176.4(FBXO28):c.553A>G (p.Asn185Asp)	FBXO28 (N185D)	Single nucleotide variant (missense variant +2 more)	FBXO28-related condition	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 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 condition	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 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 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)	not provided +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	ABCB10, ACBD3 +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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	FBXO28, NVL +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	CAPN9, CATSPERE +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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	ABCB10, ACBD3 +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

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Items: 75