TEKT2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 1234632	NM_014466.3(TEKT2):c.-52-227G>C	TEKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3175740	NM_014466.3(TEKT2):c.16G>A (p.Val6Ile)	TEKT2 (V6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175741	NM_014466.3(TEKT2):c.29G>A (p.Arg10Gln)	TEKT2 (R10Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387332	NM_014466.3(TEKT2):c.121G>A (p.Glu41Lys)	TEKT2 (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175737	NM_014466.3(TEKT2):c.127C>T (p.Arg43Trp)	TEKT2 (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244486	NM_014466.3(TEKT2):c.136C>T (p.Arg46Cys)	TEKT2 (R46C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3175738	NM_014466.3(TEKT2):c.137G>C (p.Arg46Pro)	TEKT2 (R46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599414	NM_014466.3(TEKT2):c.153C>G (p.Asn51Lys)	TEKT2 (N51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175739	NM_014466.3(TEKT2):c.154C>G (p.Gln52Glu)	TEKT2 (Q52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325260	NM_014466.3(TEKT2):c.188G>C (p.Arg63Pro)	TEKT2 (R63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405995	NM_014466.3(TEKT2):c.217C>T (p.Arg73Trp)	TEKT2 (R73W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536964	NM_014466.3(TEKT2):c.306C>G (p.Asn102Lys)	TEKT2 (N102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236599	NM_014466.3(TEKT2):c.365G>C (p.Ser122Thr)	TEKT2 (S122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210780	NM_014466.3(TEKT2):c.368G>A (p.Arg123Gln)	TEKT2 (R123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175742	NM_014466.3(TEKT2):c.377T>C (p.Ile126Thr)	TEKT2 (I126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542814	NM_014466.3(TEKT2):c.440C>G (p.Thr147Ser)	TEKT2 (T147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266573	NM_014466.3(TEKT2):c.488+253A>G	TEKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2372963	NM_014466.3(TEKT2):c.530G>A (p.Arg177Gln)	TEKT2 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175743	NM_014466.3(TEKT2):c.583A>G (p.Arg195Gly)	TEKT2 (R195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175744	NM_014466.3(TEKT2):c.602T>C (p.Leu201Pro)	TEKT2 (L201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638661	NM_014466.3(TEKT2):c.686C>T (p.Ala229Val)	TEKT2 (A229V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2456626	NM_014466.3(TEKT2):c.704C>G (p.Ala235Gly)	TEKT2 (A235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348277	NM_014466.3(TEKT2):c.776T>C (p.Val259Ala)	TEKT2 (V259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175745	NM_014466.3(TEKT2):c.782C>T (p.Thr261Met)	TEKT2 (T261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638662	NM_014466.3(TEKT2):c.783G>A (p.Thr261=)	TEKT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638663	NM_014466.3(TEKT2):c.870C>T (p.Ile290=)	TEKT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485371	NM_014466.3(TEKT2):c.892C>T (p.Arg298Trp)	TEKT2 (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175746	NM_014466.3(TEKT2):c.914G>A (p.Arg305His)	TEKT2 (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409383	NM_014466.3(TEKT2):c.949C>T (p.Arg317Trp)	TEKT2 (R317W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353615	NM_014466.3(TEKT2):c.1039G>A (p.Ala347Thr)	TEKT2 (A347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291543	NM_014466.3(TEKT2):c.1084G>A (p.Ala362Thr)	TEKT2 (A362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638664	NM_014466.3(TEKT2):c.1086A>C (p.Ala362=)	TEKT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559727	NM_014466.3(TEKT2):c.1122G>T (p.Gln374His)	TEKT2 (Q374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559728	NM_014466.3(TEKT2):c.1123G>T (p.Ala375Ser)	TEKT2 (A375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254502	NM_014466.3(TEKT2):c.1130T>C (p.Ile377Thr)	TEKT2 (I377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354316	NM_014466.3(TEKT2):c.1178C>T (p.Thr393Ile)	TEKT2 (T393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180264	NM_014466.3(TEKT2):c.1179A>G (p.Thr393=)	TEKT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545542	NM_014466.3(TEKT2):c.1265T>C (p.Leu422Pro)	TEKT2 (L422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282112	NM_014466.3(TEKT2):c.*49A>C	TEKT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 687265	GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3	ADPRS, AGO3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
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 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 52