TMEM254[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 1679573	Single allele	LOC130004183, LOC130004184 +19 more	Deletion	not provided	GUncertain significance
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 148665	GRCh38/hg38 10q22.3(chr10:79881238-80198984)x1	ANXA11, LOC126860977 +8 more	Copy number loss	See cases	GUncertain significance
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 147366	GRCh38/hg38 10q22.3(chr10:79882162-80202422)x1	ANXA11, LOC126860977 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57378	GRCh38/hg38 10q22.3-23.1(chr10:79882162-80327290)x1	ANXA11, LINC00857 +20 more	Copy number loss	See cases	GUncertain significance
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 2388357	NM_025125.4(TMEM254):c.49T>C (p.Trp17Arg)	TMEM254, TMEM254-AS1 (W17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379950	NM_025125.4(TMEM254):c.275G>A (p.Arg92Gln)	TMEM254 (R92Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2336351	NM_025125.4(TMEM254):c.287T>A (p.Leu96His)	TMEM254 (L120H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179303	NM_025125.4(TMEM254):c.296T>A (p.Leu99Gln)	TMEM254 (L123Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543450	NM_025125.4(TMEM254):c.319G>A (p.Ala107Thr)	TMEM254 (A131T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352608	NM_025125.4(TMEM254):c.333C>G (p.Ile111Met)	TMEM254 (I135M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179304	NM_025125.4(TMEM254):c.349C>T (p.Arg117Trp)	TMEM254 (R117W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179305	NM_025125.4(TMEM254):c.350G>T (p.Arg117Leu)	TMEM254 (R117L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359456	NM_025125.4(TMEM254):c.350G>A (p.Arg117Gln)	TMEM254 (R141Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3244819	NC_000010.10:g.(?_81697608)_(82049179_?)dup	SFTPD, TMEM254 +3 more	Duplication	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 3244818	NC_000010.10:g.(?_81697608)_(82049179_?)del	ANXA11, MAT1A +3 more	Deletion	Hepatic methionine adenosyltransferase deficiency	GPathogenic
Select item 2685383	GRCh37/hg19 10q22.3(chr10:81820548-81844436)x1	TMEM254	Copy number loss	not provided	GUncertain significance
Select item 2685382	GRCh37/hg19 10q22.3(chr10:81289036-81872800)x1	NUTM2B, SFTPA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808987	GRCh37/hg19 10q22.3(chr10:81603170-81984775)x1	ANXA11, PLAC9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1340608	GRCh37/hg19 10q22.3(chr10:81446907-81844436)x1	NUTM2B, SFTPD +1 more	Copy number loss	not provided	GLikely benign
Select item 1340588	GRCh37/hg19 10q22.3(chr10:81630469-81979676)x3	ANXA11, PLAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340433	GRCh37/hg19 10q22.3(chr10:81597767-81971690)x3	ANXA11, PLAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340005	GRCh37/hg19 10q22.3-23.1(chr10:81622295-83932730)x1	ANXA11, DYDC1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 980931	GRCh37/hg19 10q22.3(chr10:81457752-81990746)x1	ANXA11, NUTM2B +3 more	Copy number loss	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 979273	GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3	NUTM2B, ANXA11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 635864	Single allele	ANXA11, PLAC9 +2 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 563741	GRCh37/hg19 10q22.3(chr10:81597766-81979552)x3	PLAC9, TMEM254 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563740	GRCh37/hg19 10q22.3(chr10:81603169-81976925)x1	SFTPD, ANXA11 +2 more	Copy number loss	not provided	GLikely benign
Select item 563737	GRCh37/hg19 10q22.3(chr10:81617260-81976925)x1	ANXA11, PLAC9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563734	GRCh37/hg19 10q22.3(chr10:81630468-81976925)x3	PLAC9, ANXA11 +2 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442565	GRCh37/hg19 10q22.3(chr10:81614689-81976925)x1	ANXA11, PLAC9 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 61