TEX35[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 3176400	NM_032126.5(TEX35):c.17C>A (p.Ala6Glu)	TEX35 (A6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325575	NM_032126.5(TEX35):c.43A>G (p.Lys15Glu)	TEX35 (K23E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373087	NM_032126.5(TEX35):c.83C>T (p.Pro28Leu)	TEX35 (P28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392410	NM_032126.5(TEX35):c.125G>A (p.Arg42Gln)	TEX35 (R42Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176399	NM_032126.5(TEX35):c.172G>C (p.Glu58Gln)	TEX35 (E58Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540687	NM_032126.5(TEX35):c.194A>G (p.Glu65Gly)	TEX35 (E65G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513792	NM_032126.5(TEX35):c.239A>T (p.Asp80Val)	TEX35 (D80V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325574	NM_032126.5(TEX35):c.242T>G (p.Phe81Cys)	TEX35 (F81C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507574	NM_032126.5(TEX35):c.289G>T (p.Asp97Tyr)	TEX35 (D105Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176401	NM_032126.5(TEX35):c.359C>A (p.Pro120Gln)	TEX35 (P120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224231	NM_032126.5(TEX35):c.427A>T (p.Met143Leu)	TEX35 (M143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468469	NM_032126.5(TEX35):c.469C>G (p.His157Asp)	TEX35 (H157D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357450	NM_032126.5(TEX35):c.673G>T (p.Ala225Ser)	TEX35 (A225S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342696	NM_032126.5(TEX35):c.697A>G (p.Arg233Gly)	TEX35 (R233G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979310	GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	CACYBP, TEX35 +13 more	Copy number loss	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 36