FBXO30[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 3093657	NM_032145.5(FBXO30):c.2155A>G (p.Ile719Val)	EPM2A-DT, FBXO30 (I719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278130	NM_032145.5(FBXO30):c.2144G>A (p.Arg715Gln)	EPM2A-DT, FBXO30 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206401	NM_032145.5(FBXO30):c.2106C>G (p.Asp702Glu)	EPM2A-DT, FBXO30 (D702E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278126	NM_032145.5(FBXO30):c.2068A>C (p.Asn690His)	EPM2A-DT, FBXO30 (N690H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093656	NM_032145.5(FBXO30):c.2042G>A (p.Arg681Gln)	EPM2A-DT, FBXO30 (R681Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317000	NM_032145.5(FBXO30):c.1798C>A (p.Pro600Thr)	EPM2A-DT, FBXO30 (P600T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093655	NM_032145.5(FBXO30):c.1486T>G (p.Phe496Val)	EPM2A-DT, FBXO30 (F496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379037	NM_032145.5(FBXO30):c.1428G>C (p.Glu476Asp)	EPM2A-DT, FBXO30 (E476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555144	NM_032145.5(FBXO30):c.1366G>A (p.Val456Ile)	EPM2A-DT, FBXO30 (V456I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093654	NM_032145.5(FBXO30):c.1361T>C (p.Ile454Thr)	EPM2A-DT, FBXO30 (I454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278127	NM_032145.5(FBXO30):c.1352T>C (p.Ile451Thr)	EPM2A-DT, FBXO30 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687849	NM_032145.5(FBXO30):c.1297T>N (p.Cys433Xaa)	EPM2A-DT, FBXO30 (C433*)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278129	NM_032145.5(FBXO30):c.1084G>A (p.Glu362Lys)	EPM2A-DT, FBXO30 (E362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093653	NM_032145.5(FBXO30):c.1060A>G (p.Ile354Val)	EPM2A-DT, FBXO30 (I354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278128	NM_032145.5(FBXO30):c.1040C>G (p.Pro347Arg)	EPM2A-DT, FBXO30 (P347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515846	NM_032145.5(FBXO30):c.1031G>T (p.Ser344Ile)	EPM2A-DT, FBXO30 (S344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656967	NM_032145.5(FBXO30):c.936A>G (p.Leu312=)	EPM2A-DT, FBXO30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093661	NM_032145.5(FBXO30):c.922A>G (p.Lys308Glu)	EPM2A-DT, FBXO30 (K308E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374399	NM_032145.5(FBXO30):c.875T>C (p.Ile292Thr)	EPM2A-DT, FBXO30 (I292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278131	NM_032145.5(FBXO30):c.785A>G (p.Glu262Gly)	EPM2A-DT, FBXO30 (E262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278132	NM_032145.5(FBXO30):c.774T>G (p.Asn258Lys)	EPM2A-DT, FBXO30 (N258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280241	NM_032145.5(FBXO30):c.759T>G (p.Asn253Lys)	EPM2A-DT, FBXO30 (N253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093660	NM_032145.5(FBXO30):c.755A>G (p.Tyr252Cys)	EPM2A-DT, FBXO30 (Y252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093659	NM_032145.5(FBXO30):c.614G>A (p.Arg205Lys)	EPM2A-DT, FBXO30 (R205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339996	NM_032145.5(FBXO30):c.550C>G (p.Gln184Glu)	EPM2A-DT, FBXO30 (Q184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093658	NM_032145.5(FBXO30):c.436A>G (p.Thr146Ala)	EPM2A-DT, FBXO30 (T146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246122	NM_032145.5(FBXO30):c.374C>T (p.Ala125Val)	EPM2A-DT, FBXO30 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404456	NM_032145.5(FBXO30):c.221A>G (p.Asn74Ser)	EPM2A-DT, FBXO30 (N74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527302	GRCh37/hg19 6q24.2-24.3(chr6:145449900-148319443)	ADGB, EPM2A +6 more	Copy number gain	not specified	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	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
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 40