FBXO39[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 3278159	NM_153230.3(FBXO39):c.7G>A (p.Glu3Lys)	FBXO39 (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391996	NM_153230.3(FBXO39):c.31C>G (p.Gln11Glu)	FBXO39 (Q11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249614	NM_153230.3(FBXO39):c.128G>A (p.Cys43Tyr)	FBXO39 (C43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454527	NM_153230.3(FBXO39):c.170G>A (p.Arg57Gln)	FBXO39 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278163	NM_153230.3(FBXO39):c.199C>T (p.Pro67Ser)	FBXO39 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263077	NM_153230.3(FBXO39):c.205A>G (p.Arg69Gly)	FBXO39 (R69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278161	NM_153230.3(FBXO39):c.213T>G (p.His71Gln)	FBXO39 (H71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093706	NM_153230.3(FBXO39):c.283A>C (p.Lys95Gln)	FBXO39 (K95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373588	NM_153230.3(FBXO39):c.337C>T (p.Arg113Trp)	FBXO39 (R113W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476581	NM_153230.3(FBXO39):c.338G>A (p.Arg113Gln)	FBXO39 (R113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295768	NM_153230.3(FBXO39):c.373C>T (p.Arg125Cys)	FBXO39 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474794	NM_153230.3(FBXO39):c.391A>G (p.Ile131Val)	FBXO39 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278162	NM_153230.3(FBXO39):c.464T>G (p.Phe155Cys)	FBXO39 (F155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350383	NM_153230.3(FBXO39):c.473A>G (p.Lys158Arg)	FBXO39 (K158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379117	NM_153230.3(FBXO39):c.477G>T (p.Lys159Asn)	FBXO39 (K159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093707	NM_153230.3(FBXO39):c.478A>G (p.Met160Val)	FBXO39 (M160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093708	NM_153230.3(FBXO39):c.519G>C (p.Arg173Ser)	FBXO39 (R173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558757	NM_153230.3(FBXO39):c.704G>C (p.Cys235Ser)	FBXO39 (C235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403346	NM_153230.3(FBXO39):c.755G>A (p.Arg252Gln)	FBXO39 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306151	NM_153230.3(FBXO39):c.769A>C (p.Lys257Gln)	FBXO39 (K257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278160	NM_153230.3(FBXO39):c.775C>T (p.His259Tyr)	FBXO39 (H259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778656	NM_153230.3(FBXO39):c.778G>A (p.Val260Ile)	FBXO39 (V260I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3093709	NM_153230.3(FBXO39):c.791A>G (p.His264Arg)	FBXO39 (H264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093710	NM_153230.3(FBXO39):c.845A>G (p.Asn282Ser)	FBXO39 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093711	NM_153230.3(FBXO39):c.866T>C (p.Phe289Ser)	FBXO39 (F289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348290	NM_153230.3(FBXO39):c.871C>T (p.Arg291Trp)	FBXO39 (R291W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363355	NM_153230.3(FBXO39):c.881A>G (p.Lys294Arg)	FBXO39 (K294R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2357573	NM_153230.3(FBXO39):c.889C>T (p.Arg297Cys)	FBXO39 (R297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299488	NM_153230.3(FBXO39):c.931A>G (p.Ile311Val)	FBXO39 (I311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236718	NM_153230.3(FBXO39):c.944G>A (p.Ser315Asn)	FBXO39 (S315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370970	NM_153230.3(FBXO39):c.983C>T (p.Thr328Ile)	FBXO39 (T328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093702	NM_153230.3(FBXO39):c.1034G>A (p.Cys345Tyr)	FBXO39 (C345Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258136	NM_153230.3(FBXO39):c.1046A>T (p.Asn349Ile)	FBXO39 (N349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278158	NM_153230.3(FBXO39):c.1049A>T (p.Asn350Ile)	FBXO39 (N350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231046	NM_153230.3(FBXO39):c.1069G>C (p.Glu357Gln)	FBXO39 (E357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093704	NM_153230.3(FBXO39):c.1184C>T (p.Ala395Val)	FBXO39 (A395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525957	NM_153230.3(FBXO39):c.1219A>G (p.Arg407Gly)	FBXO39 (R407G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278164	NM_153230.3(FBXO39):c.1247C>A (p.Thr416Asn)	FBXO39 (T416N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526415	NM_153230.3(FBXO39):c.1258A>G (p.Ile420Val)	FBXO39 (I420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276995	NM_153230.3(FBXO39):c.1277A>C (p.Lys426Thr)	FBXO39 (K426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093705	NM_153230.3(FBXO39):c.1285G>A (p.Glu429Lys)	FBXO39 (E429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920768	NM_153230.3(FBXO39):c.*122dup	FBXO39	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1526565	GRCh37/hg19 17p13.1(chr17:6630435-6778040)	FBXO39, TEKT1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1340661	GRCh37/hg19 17p13.1(chr17:6630436-6811274)x1	FBXO39, TEKT1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815899	GRCh37/hg19 17p13.1(chr17:6630435-6800894)x1	TEKT1, FBXO39 +1 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 67