ClinVar for Gene (Select 65084) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326790	NM_022918.4(TMEM135):c.163C>T (p.Arg55Trp)	TMEM135 (R55W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326789	NM_022918.4(TMEM135):c.629G>C (p.Arg210Thr)	TMEM135 (R188T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178795	NM_022918.4(TMEM135):c.608A>G (p.Tyr203Cys)	TMEM135 (Y203C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178794	NM_022918.4(TMEM135):c.478A>G (p.Ile160Val)	TMEM135 (I160V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178793	NM_022918.4(TMEM135):c.125A>G (p.Tyr42Cys)	TMEM135 (Y42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056691	NM_022918.4(TMEM135):c.362+6A>C	TMEM135	Single nucleotide variant (intron variant)	TMEM135-related disorder	GBenign
Select item 3056487	NM_022918.4(TMEM135):c.1289G>C (p.Gly430Ala)	TMEM135 (G408A +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM135-related disorder	GBenign
Select item 3053841	NM_022918.4(TMEM135):c.883A>G (p.Lys295Glu)	TMEM135 (K273E +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM135-related disorder	GLikely benign
Select item 3053201	NM_022918.4(TMEM135):c.26C>G (p.Pro9Arg)	TMEM135 (P9R)	Single nucleotide variant (missense variant +1 more)	TMEM135-related disorder	GBenign
Select item 3049524	NM_022918.4(TMEM135):c.1162A>G (p.Ile388Val)	TMEM135 (I366V +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM135-related disorder	GLikely benign
Select item 3040712	NM_022918.4(TMEM135):c.722G>A (p.Arg241Lys)	TMEM135 (R219K +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM135-related disorder	GLikely benign
Select item 3034533	NM_022918.4(TMEM135):c.397-11_397-10dup	TMEM135	Duplication (intron variant)	TMEM135-related disorder	GLikely benign
Select item 2607195	NM_022918.4(TMEM135):c.595C>T (p.Pro199Ser)	TMEM135 (P199S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562431	NM_022918.4(TMEM135):c.1135A>G (p.Thr379Ala)	TMEM135 (T379A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545337	NM_022918.4(TMEM135):c.578C>T (p.Pro193Leu)	TMEM135 (P193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542033	NM_022918.4(TMEM135):c.1302C>A (p.His434Gln)	TMEM135 (H412Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490269	NM_022918.4(TMEM135):c.1166G>T (p.Cys389Phe)	TMEM135 (C367F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388692	NM_022918.4(TMEM135):c.1323G>T (p.Arg441Ser)	TMEM135 (R419S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379028	NM_022918.4(TMEM135):c.1295C>G (p.Ser432Cys)	TMEM135 (S432C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351741	NM_022918.4(TMEM135):c.272A>G (p.Lys91Arg)	TMEM135 (K91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225480	NM_022918.4(TMEM135):c.1306C>G (p.Gln436Glu)	TMEM135 (Q414E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220406	NM_022918.4(TMEM135):c.130C>T (p.Pro44Ser)	TMEM135 (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219314	NM_022918.4(TMEM135):c.24C>G (p.Ile8Met)	TMEM135 (I8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1808205	GRCh37/hg19 11q14.2(chr11:86399065-87131796)x3	FZD4, PRSS23 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807940	GRCh37/hg19 11q14.2(chr11:86748054-87174404)x3	TMEM135	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980963	GRCh37/hg19 11q14.2(chr11:86962311-87326117)x3	TMEM135	Copy number gain	not provided	GUncertain significance
Select item 815452	GRCh37/hg19 11q14.2(chr11:86811968-86899962)x1	TMEM135	Copy number loss	not provided	GUncertain significance
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
Select item 790321	NM_022918.4(TMEM135):c.207A>G (p.Leu69=)	TMEM135	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 787597	NM_022918.4(TMEM135):c.174C>G (p.Asp58Glu)	TMEM135 (D58E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 763480	NM_022918.4(TMEM135):c.81C>T (p.Phe27=)	TMEM135	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726086	NM_022918.4(TMEM135):c.607T>C (p.Tyr203His)	TMEM135 (Y181H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	GPathogenic
Select item 443004	GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3	CCDC81, CCDC83 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 268072	GRCh37/hg19 11q14.2(chr11:86561752-86786833)x1	FZD4, TMEM135	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 51