TEX26[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +51 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 2272578	NM_152325.3(TEX26):c.16C>A (p.Pro6Thr)	TEX26 (P6T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2643713	NM_152325.3(TEX26):c.39C>T (p.Leu13=)	TEX26	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2242026	NM_152325.3(TEX26):c.69C>A (p.Asp23Glu)	TEX26 (D23E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2491513	NM_152325.3(TEX26):c.94A>G (p.Thr32Ala)	TEX26 (T32A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3176377	NM_152325.3(TEX26):c.149A>G (p.Gln50Arg)	TEX26 (Q50R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2330483	NM_152325.3(TEX26):c.154G>A (p.Gly52Ser)	TEX26 (G52S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2558401	NM_152325.3(TEX26):c.209C>G (p.Thr70Arg)	TEX26 (T70R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2235811	NM_152325.3(TEX26):c.226T>A (p.Tyr76Asn)	TEX26 (Y76N)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2297569	NM_152325.3(TEX26):c.281G>A (p.Gly94Glu)	TEX26 (G94E)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2313175	NM_152325.3(TEX26):c.389C>T (p.Ala130Val)	TEX26 (A130V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2322292	NM_152325.3(TEX26):c.394A>G (p.Met132Val)	TEX26 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176378	NM_152325.3(TEX26):c.403G>A (p.Val135Ile)	TEX26 (V135I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557810	NM_152325.3(TEX26):c.421A>T (p.Asn141Tyr)	TEX26 (N141Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325568	NM_152325.3(TEX26):c.427T>C (p.Phe143Leu)	TEX26 (F12L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592090	NM_152325.3(TEX26):c.434C>T (p.Ser145Phe)	TEX26 (S14F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224746	NM_152325.3(TEX26):c.436C>T (p.Leu146Phe)	TEX26 (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486574	NM_152325.3(TEX26):c.452T>C (p.Phe151Ser)	TEX26 (F151S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176379	NM_152325.3(TEX26):c.499T>A (p.Ser167Thr)	TEX26 (S36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176380	NM_152325.3(TEX26):c.505G>C (p.Glu169Gln)	TEX26 (E38Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176381	NM_152325.3(TEX26):c.548G>A (p.Arg183Gln)	TEX26 (R183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710812	NM_152325.3(TEX26):c.693G>T (p.Lys231Asn)	TEX26 (K100N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2559125	NM_152325.3(TEX26):c.697C>G (p.Gln233Glu)	TEX26 (Q233E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176382	NM_152325.3(TEX26):c.707A>T (p.Tyr236Phe)	TEX26 (Y105F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176383	NM_152325.3(TEX26):c.721G>A (p.Asp241Asn)	TEX26 (D241N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308310	NM_152325.3(TEX26):c.755A>G (p.Asn252Ser)	TEX26 (N121S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176384	NM_152325.3(TEX26):c.767C>A (p.Ser256Tyr)	TEX26 (S125Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3024580	GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3	ALOX5AP, B3GLCT +12 more	Copy number gain	not provided	GUncertain significance
Select item 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1180526	GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1	ALOX5AP, B3GLCT +22 more	Copy number loss	not provided	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815579	GRCh37/hg19 13q12.3(chr13:31498706-31566543)x1	TEX26, MEDAG	Copy number loss	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 67