TMEM239[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 155405	GRCh38/hg38 20p13(chr20:2526755-3081651)x3	C20orf141, CPXM1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2374837	NM_001167670.3(TMEM239):c.12G>T (p.Gln4His)	TMEM239 (Q47H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348363	NM_001167670.3(TMEM239):c.17G>A (p.Arg6Gln)	TMEM239 (R49Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474610	NM_001167670.3(TMEM239):c.34A>G (p.Ile12Val)	TMEM239 (I55V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327001	NM_001167670.3(TMEM239):c.44G>C (p.Gly15Ala)	TMEM239 (G15A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254109	NM_001167670.3(TMEM239):c.50G>A (p.Gly17Glu)	TMEM239 (G17E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252505	NM_001167670.3(TMEM239):c.82G>A (p.Val28Ile)	TMEM239 (V71I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372430	NM_001167670.3(TMEM239):c.86C>T (p.Thr29Met)	TMEM239 (T29M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472792	NM_001167670.3(TMEM239):c.103C>T (p.Arg35Cys)	TMEM239 (R35C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179245	NM_001167670.3(TMEM239):c.109T>G (p.Trp37Gly)	TMEM239 (W37G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399050	NM_001167670.3(TMEM239):c.128C>T (p.Pro43Leu)	TMEM239 (P86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327004	NM_001167670.3(TMEM239):c.164G>A (p.Arg55Gln)	TMEM239 (R55Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179246	NM_001167670.3(TMEM239):c.179G>A (p.Arg60His)	TMEM239 (R60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179247	NM_001167670.3(TMEM239):c.290C>T (p.Ala97Val)	TMEM239 (A140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296664	NM_001167670.3(TMEM239):c.299G>C (p.Trp100Ser)	TMEM239 (W100S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327003	NM_001167670.3(TMEM239):c.302G>A (p.Arg101His)	TMEM239 (R101H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179248	NM_001167670.3(TMEM239):c.311T>C (p.Leu104Pro)	LOC130065313, TMEM239 (L104P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179249	NM_001167670.3(TMEM239):c.338G>C (p.Ser113Thr)	LOC130065313, TMEM239 (S113T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350128	NM_001167670.3(TMEM239):c.362C>T (p.Thr121Met)	LOC130065313, TMEM239 (T121M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179250	NM_001167670.3(TMEM239):c.427C>T (p.His143Tyr)	TMEM239 (H186Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313946	NM_001167670.3(TMEM239):c.433G>A (p.Gly145Ser)	TMEM239 (G145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282006	NM_001167670.3(TMEM239):c.448T>G (p.Leu150Val)	TMEM239 (L193V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204924	NM_001167670.3(TMEM239):c.452A>G (p.Asp151Gly)	TMEM239 (D194G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 685366	GRCh37/hg19 20p13(chr20:2738670-3054217)x3	C20orf141, CPXM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 54