ClinVar for Gene (Select 200081) - ClinVar

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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	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +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

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Links from Gene

Items: 52