ClinVar for Gene (Select 200081) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330345	NM_175852.4(TXLNA):c.1418C>G (p.Ala473Gly)	TXLNA (A298G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330344	NM_175852.4(TXLNA):c.1188G>T (p.Glu396Asp)	TXLNA (E396D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330343	NM_175852.4(TXLNA):c.520T>G (p.Leu174Val)	TXLNA (L174V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330342	NM_175852.4(TXLNA):c.684C>T (p.Arg228=)	TXLNA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3330341	NM_175852.4(TXLNA):c.755A>G (p.Asn252Ser)	TXLNA (N252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185114	NM_175852.4(TXLNA):c.969C>G (p.Ile323Met)	TXLNA (I148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185113	NM_175852.4(TXLNA):c.931A>C (p.Lys311Gln)	TXLNA (K311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185112	NM_175852.4(TXLNA):c.79C>T (p.Pro27Ser)	TXLNA (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185111	NM_175852.4(TXLNA):c.748C>T (p.Arg250Trp)	TXLNA (R250W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185110	NM_175852.4(TXLNA):c.683G>A (p.Arg228His)	TXLNA (R53H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185109	NM_175852.4(TXLNA):c.488A>G (p.Lys163Arg)	TXLNA (K163R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185107	NM_175852.4(TXLNA):c.241G>A (p.Asp81Asn)	TXLNA (D81N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185106	NM_175852.4(TXLNA):c.154C>T (p.Pro52Ser)	LOC129930017, TXLNA (P52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185105	NM_175852.4(TXLNA):c.1480G>T (p.Gly494Cys)	TXLNA (G494C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185104	NM_175852.4(TXLNA):c.1426A>T (p.Thr476Ser)	TXLNA (T301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185103	NM_175852.4(TXLNA):c.1304G>A (p.Arg435Gln)	TXLNA (R260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185101	NM_175852.4(TXLNA):c.1289C>T (p.Thr430Ile)	TXLNA (T255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2619581	NM_175852.4(TXLNA):c.694A>C (p.Ser232Arg)	TXLNA (S232R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542034	NM_175852.4(TXLNA):c.634C>T (p.Leu212Phe)	TXLNA (L37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495492	NM_175852.4(TXLNA):c.313G>A (p.Ala105Thr)	TXLNA (A105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464288	NM_175852.4(TXLNA):c.1630G>A (p.Ala544Thr)	TXLNA (A544T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461337	NM_175852.4(TXLNA):c.1397G>A (p.Arg466Gln)	TXLNA (R466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455133	NM_175852.4(TXLNA):c.873C>G (p.His291Gln)	TXLNA (H116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454881	NM_175852.4(TXLNA):c.1228A>G (p.Thr410Ala)	TXLNA (T235A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375976	NM_175852.4(TXLNA):c.389A>G (p.Asn130Ser)	TXLNA (N130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359427	NM_175852.4(TXLNA):c.881G>A (p.Arg294His)	TXLNA (R119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353257	NM_175852.4(TXLNA):c.1319A>G (p.Asn440Ser)	TXLNA (N265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308788	NM_175852.4(TXLNA):c.68C>T (p.Pro23Leu)	TXLNA (P23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308715	NM_175852.4(TXLNA):c.389A>T (p.Asn130Ile)	TXLNA (N130I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280691	NM_175852.4(TXLNA):c.500G>A (p.Gly167Asp)	TXLNA (G167D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245593	NM_175852.4(TXLNA):c.292G>C (p.Asp98His)	TXLNA (D98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231264	NM_175852.4(TXLNA):c.476C>T (p.Pro159Leu)	TXLNA (P159L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224145	NM_175852.4(TXLNA):c.771A>C (p.Glu257Asp)	TXLNA (E257D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211508	NM_175852.4(TXLNA):c.1074G>T (p.Glu358Asp)	TXLNA (E358D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211406	NM_175852.4(TXLNA):c.1583C>T (p.Pro528Leu)	TXLNA (P528L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204308	NM_175852.4(TXLNA):c.100C>T (p.Pro34Ser)	TXLNA (P34S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526651	GRCh37/hg19 1p35.1(chr1:32462251-32721488)	TMEM234, TMEM39B +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 783932	NM_175852.4(TXLNA):c.1542C>G (p.Ser514Arg)	TXLNA (S339R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724717	NM_175852.4(TXLNA):c.120A>G (p.Ala40=)	LOC129930017, TXLNA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 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 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	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: 52