TMEM266[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 2370452	NM_152335.5(TMEM266):c.49A>G (p.Ile17Val)	TMEM266 (I25V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592005	NM_152335.5(TMEM266):c.119G>A (p.Arg40Gln)	TMEM266 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608941	NM_152335.5(TMEM266):c.142G>A (p.Asp48Asn)	TMEM266 (D48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316374	NM_152335.5(TMEM266):c.200A>G (p.Glu67Gly)	TMEM266 (E75G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179395	NM_152335.5(TMEM266):c.274C>G (p.Leu92Val)	TMEM266 (L92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179396	NM_152335.5(TMEM266):c.367G>T (p.Ala123Ser)	TMEM266 (A123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179397	NM_152335.5(TMEM266):c.434C>G (p.Thr145Ser)	TMEM266 (T145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179398	NM_152335.5(TMEM266):c.679G>A (p.Glu227Lys)	LOC101929439, TMEM266 (E227K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2214805	NM_152335.5(TMEM266):c.722C>T (p.Thr241Met)	LOC101929439, TMEM266 (T249M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268981	NM_152335.5(TMEM266):c.820C>G (p.Gln274Glu)	TMEM266 (Q282E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519948	NM_152335.5(TMEM266):c.824C>A (p.Ala275Asp)	TMEM266 (A275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526839	NM_152335.5(TMEM266):c.826C>G (p.Pro276Ala)	TMEM266 (P276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179383	NM_152335.5(TMEM266):c.1003G>A (p.Gly335Ser)	TMEM266 (G335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327060	NM_152335.5(TMEM266):c.1019C>T (p.Ala340Val)	TMEM266 (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179384	NM_152335.5(TMEM266):c.1028T>C (p.Met343Thr)	TMEM266 (M343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404226	NM_152335.5(TMEM266):c.1037C>T (p.Thr346Met)	TMEM266 (T354M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179385	NM_152335.5(TMEM266):c.1042G>A (p.Ala348Thr)	TMEM266 (A348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528436	NM_152335.5(TMEM266):c.1045A>G (p.Ile349Val)	TMEM266 (I349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179386	NM_152335.5(TMEM266):c.1049A>C (p.Asp350Ala)	TMEM266 (D350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359493	NM_152335.5(TMEM266):c.1063A>C (p.Asn355His)	TMEM266 (N363H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327062	NM_152335.5(TMEM266):c.1088T>C (p.Leu363Pro)	TMEM266 (L363P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179387	NM_152335.5(TMEM266):c.1096C>A (p.Pro366Thr)	TMEM266 (P366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395255	NM_152335.5(TMEM266):c.1207T>C (p.Cys403Arg)	TMEM266 (C411R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465361	NM_152335.5(TMEM266):c.1219C>T (p.Arg407Cys)	TMEM266 (R407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327065	NM_152335.5(TMEM266):c.1240C>G (p.Pro414Ala)	TMEM266 (P414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179388	NM_152335.5(TMEM266):c.1259C>T (p.Pro420Leu)	TMEM266 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329838	NM_152335.5(TMEM266):c.1271A>C (p.Gln424Pro)	TMEM266 (Q432P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179389	NM_152335.5(TMEM266):c.1286A>C (p.Glu429Ala)	TMEM266 (E429A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614258	NM_152335.5(TMEM266):c.1323G>T (p.Glu441Asp)	TMEM266 (E441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327061	NM_152335.5(TMEM266):c.1330T>C (p.Cys444Arg)	TMEM266 (C444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298149	NM_152335.5(TMEM266):c.1331G>A (p.Cys444Tyr)	TMEM266 (C452Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327063	NM_152335.5(TMEM266):c.1358C>T (p.Ala453Val)	TMEM266 (A453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179390	NM_152335.5(TMEM266):c.1363C>G (p.Leu455Val)	TMEM266 (L455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593486	NM_152335.5(TMEM266):c.1363C>A (p.Leu455Ile)	TMEM266 (L455I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179391	NM_152335.5(TMEM266):c.1366G>A (p.Ala456Thr)	TMEM266 (A456T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179392	NM_152335.5(TMEM266):c.1369C>T (p.Arg457Trp)	TMEM266 (R457W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394641	NM_152335.5(TMEM266):c.1370G>A (p.Arg457Gln)	TMEM266 (R465Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237599	NM_152335.5(TMEM266):c.1473G>T (p.Arg491Ser)	TMEM266 (R499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179393	NM_152335.5(TMEM266):c.1487T>G (p.Phe496Cys)	TMEM266 (F496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179394	NM_152335.5(TMEM266):c.1540G>A (p.Glu514Lys)	TMEM266 (E514K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617317	NM_152335.5(TMEM266):c.1559T>C (p.Val520Ala)	TMEM266 (V520A)	Single nucleotide variant (missense variant)	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 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1808414	GRCh37/hg19 15q24.2-24.3(chr15:76295806-76602024)x3	ETFA, NRG4 +1 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 65