ClinVar for Gene (Select 26263) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278108	NM_147188.3(FBXO22):c.161A>C (p.Glu54Ala)	FBXO22 (E54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278107	NM_147188.3(FBXO22):c.53G>A (p.Arg18Gln)	FBXO22 (R18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278106	NM_147188.3(FBXO22):c.17G>T (p.Cys6Phe)	FBXO22 (C6F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3093619	NM_147188.3(FBXO22):c.797A>T (p.Asn266Ile)	FBXO22 (N266I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093618	NM_147188.3(FBXO22):c.620C>T (p.Thr207Ile)	FBXO22 (T207I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093617	NM_147188.3(FBXO22):c.1100G>A (p.Arg367Gln)	FBXO22 (R367Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2527941	NM_147188.3(FBXO22):c.1006G>A (p.Ala336Thr)	FBXO22 (A336T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511105	NM_147188.3(FBXO22):c.880G>A (p.Glu294Lys)	FBXO22 (E294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2497740	NM_147188.3(FBXO22):c.737T>A (p.Met246Lys)	FBXO22 (M246K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2485084	NM_147188.3(FBXO22):c.287G>A (p.Arg96His)	FBXO22 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2459546	NM_147188.3(FBXO22):c.52C>T (p.Arg18Trp)	FBXO22 (R18W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395066	NM_147188.3(FBXO22):c.172A>G (p.Arg58Gly)	FBXO22 (R58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368386	NM_147188.3(FBXO22):c.187C>T (p.His63Tyr)	FBXO22 (H63Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309966	NM_147188.3(FBXO22):c.535T>C (p.Phe179Leu)	FBXO22 (F179L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304544	NM_147188.3(FBXO22):c.737T>C (p.Met246Thr)	FBXO22 (M246T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296299	NM_147188.3(FBXO22):c.1043T>G (p.Phe348Cys)	FBXO22 (F348C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283984	NM_147188.3(FBXO22):c.161A>G (p.Glu54Gly)	FBXO22 (E54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220921	NM_147188.3(FBXO22):c.932C>T (p.Ala311Val)	FBXO22 (A311V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1301814	NM_147188.3(FBXO22):c.159_162del (p.Arg53fs)	FBXO22 (R53fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980534	GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3	TMEM266, CSPG4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688262	GRCh37/hg19 15q24.2(chr15:76063129-76415430)x3	FBXO22, FBXO22-AS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 254010	GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3	FBXO22, ISL2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 59384	GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1	CIMAP1C, CSPG4 +22 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 42