TMEM114[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	HBZ, HCFC1R1 +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC130058192, LOC130058208 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3036348	NM_001146336.2(TMEM114):c.186G>C (p.Leu62=)	TMEM114	Single nucleotide variant (synonymous variant +2 more)	TMEM114-related disorder	GLikely benign
Select item 3054083	NM_001146336.2(TMEM114):c.90C>T (p.Asp30=)	TMEM114	Single nucleotide variant (synonymous variant +2 more)	TMEM114-related disorder	GLikely benign
Select item 2684781	GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3	ABAT, CARHSP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2500242	NC_000016.9:g.(?_8160554)_(9074348_?)del	ABAT, CARHSP1 +5 more	Deletion	Hao-Fountain syndrome	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703617	GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)	ABAT, CARHSP1 +8 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GLikely pathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 983161	GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3	ABAT, METTL22 +5 more	Copy number gain	See cases	GUncertain significance
Select item 980571	GRCh37/hg19 16p13.2(chr16:8599654-8689856)x1	TMEM114	Copy number loss	not provided	GUncertain significance
Select item 980569	GRCh37/hg19 16p13.2(chr16:8589179-8837995)x3	METTL22, TMEM114 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980568	GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3	TMEM114, PMM2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980567	GRCh37/hg19 16p13.2(chr16:8559721-8832148)x3	TMEM114, ABAT +1 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689008	GRCh37/hg19 16p13.2(chr16:8621331-8803621)x3	ABAT, METTL22 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 34