FBXO36[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 59174	GRCh38/hg38 2q36.3(chr2:229308268-229952405)x3	DNER, FBXO36 +7 more	Copy number gain	See cases	GPathogenic
Select item 152951	GRCh38/hg38 2q36.3(chr2:229648729-230055624)x1	DNER, FBXO36 +7 more	Copy number loss	See cases	GUncertain significance
Select item 150462	GRCh38/hg38 2q36.3(chr2:229778841-229969215)x3	FBXO36, LOC129389004 +4 more	Copy number gain	See cases	GLikely benign
Select item 145944	GRCh38/hg38 2q36.3(chr2:229854662-230035411)x3	FBXO36, LOC129389005 +4 more	Copy number gain	See cases	GLikely benign
Select item 3093700	NM_174899.5(FBXO36):c.5C>T (p.Ala2Val)	FBXO36, TRIP12 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410442	NM_174899.5(FBXO36):c.10T>C (p.Trp4Arg)	FBXO36, TRIP12 (W4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274880	NM_174899.5(FBXO36):c.55C>T (p.Pro19Ser)	FBXO36, TRIP12 (P19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205552	NM_174899.5(FBXO36):c.107G>C (p.Arg36Thr)	FBXO36 (R36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093699	NM_174899.5(FBXO36):c.140G>A (p.Arg47Gln)	FBXO36 (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651989	NM_174899.5(FBXO36):c.151C>T (p.Pro51Ser)	FBXO36 (P51S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2354530	NM_174899.5(FBXO36):c.173A>G (p.His58Arg)	FBXO36 (H58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543093	NM_174899.5(FBXO36):c.193T>G (p.Ser65Ala)	FBXO36 (S65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366788	NM_174899.5(FBXO36):c.245A>G (p.Tyr82Cys)	FBXO36 (Y82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487154	NM_174899.5(FBXO36):c.426C>G (p.Cys142Trp)	FBXO36 (C142W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514571	NM_174899.5(FBXO36):c.446T>C (p.Val149Ala)	FBXO36 (V149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353465	NM_174899.5(FBXO36):c.521G>A (p.Arg174His)	FBXO36 (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482086	NM_174899.5(FBXO36):c.551G>A (p.Arg184Lys)	FBXO36 (R184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685884	GRCh37/hg19 2q36.3(chr2:230714245-230903875)x3	FBXO36, SLC16A14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1809006	GRCh37/hg19 2q36.3(chr2:230751471-230789873)x1	FBXO36, TRIP12	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1341008	GRCh37/hg19 2q36.3(chr2:230653628-230845066)x3	FBXO36, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 1340890	GRCh37/hg19 2q36.3(chr2:230689315-230810845)x1	FBXO36, TRIP12	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 816581	GRCh37/hg19 2q36.3-37.1(chr2:230783729-231016862)x3	TRIP12, FBXO36 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816580	GRCh37/hg19 2q36.3(chr2:230626876-230887430)x1	FBXO36, TRIP12	Copy number loss	not provided	GPathogenic
Select item 689261	GRCh37/hg19 2q36.3(chr2:230653628-230835177)x3	FBXO36, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 688541	GRCh37/hg19 2q36.3(chr2:230769636-230792670)x1	FBXO36, TRIP12	Copy number loss	not provided	GPathogenic
Select item 687773	GRCh37/hg19 2q36.3(chr2:230713968-230904798)x4	FBXO36, SLC16A14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686021	GRCh37/hg19 2q36.3(chr2:230622100-230870340)x1	FBXO36, TRIP12	Copy number loss	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 547119	GRCh37/hg19 2q36.3(chr2:230489419-230906744)x3	FBXO36, DNER +2 more	Copy number gain	not provided	GUncertain significance
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441824	GRCh37/hg19 2q36.3-37.1(chr2:230491213-231404389)x1	DNER, FBXO36 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 58