FBXO28[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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: 35