TXLNB[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 148927	GRCh38/hg38 6q24.1(chr6:139002616-140199336)x3	ABRACL, CITED2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2403207	NM_016217.3(HECA):c.307G>A (p.Gly103Ser)	TXLNB, HECA (G103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544001	NM_016217.3(HECA):c.314C>T (p.Pro105Leu)	HECA, TXLNB (P105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387032	NM_016217.3(HECA):c.445G>A (p.Gly149Ser)	HECA, TXLNB (G149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358878	NM_016217.3(HECA):c.637A>G (p.Arg213Gly)	TXLNB, HECA (R213G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258830	NM_016217.3(HECA):c.650A>G (p.Glu217Gly)	TXLNB, HECA (E217G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260785	NM_016217.3(HECA):c.656C>T (p.Ala219Val)	TXLNB, HECA (A219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326884	NM_016217.3(HECA):c.763G>A (p.Val255Met)	HECA, TXLNB (V255M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480370	NM_016217.3(HECA):c.826G>A (p.Gly276Ser)	HECA, TXLNB (G276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369561	NM_016217.3(HECA):c.859G>A (p.Gly287Ser)	HECA, TXLNB (G287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553898	NM_016217.3(HECA):c.865C>A (p.Arg289Ser)	HECA, TXLNB (R289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486082	NM_016217.3(HECA):c.971A>C (p.Tyr324Ser)	HECA, TXLNB (Y324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247348	NM_016217.3(HECA):c.989C>T (p.Ala330Val)	TXLNB, HECA (A330V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477767	NM_016217.3(HECA):c.1160C>T (p.Ala387Val)	HECA, TXLNB (A387V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299600	NM_016217.3(HECA):c.1336G>A (p.Val446Met)	TXLNB, HECA (V446M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327659	NM_153235.4(TXLNB):c.2044G>C (p.Gly682Arg)	TXLNB (G682R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462237	NM_153235.4(TXLNB):c.1960C>T (p.Pro654Ser)	TXLNB (P654S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289429	NM_153235.4(TXLNB):c.1942T>C (p.Cys648Arg)	TXLNB (C648R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596595	NM_153235.4(TXLNB):c.1912G>A (p.Glu638Lys)	TXLNB (E638K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266117	NM_153235.4(TXLNB):c.1878G>A (p.Met626Ile)	TXLNB (M626I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482238	NM_153235.4(TXLNB):c.1808C>T (p.Ser603Phe)	TXLNB (S603F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379071	NM_153235.4(TXLNB):c.1627C>A (p.Gln543Lys)	TXLNB (Q543K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290254	NM_153235.4(TXLNB):c.1622C>T (p.Pro541Leu)	TXLNB (P541L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509162	NM_153235.4(TXLNB):c.1595A>G (p.Glu532Gly)	TXLNB (E532G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2615156	NM_153235.4(TXLNB):c.1591C>G (p.Gln531Glu)	TXLNB (Q531E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206942	NM_153235.4(TXLNB):c.1463T>C (p.Ile488Thr)	TXLNB (I488T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276660	NM_153235.4(TXLNB):c.1215G>C (p.Trp405Cys)	TXLNB (W405C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588773	NM_153235.4(TXLNB):c.1037C>A (p.Ala346Glu)	TXLNB (A346E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271996	NM_153235.4(TXLNB):c.991G>C (p.Glu331Gln)	LOC102723690, TXLNB (E331Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598149	NM_153235.4(TXLNB):c.800G>A (p.Arg267Gln)	LOC126859811, TXLNB (R267Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455166	NM_153235.4(TXLNB):c.783C>G (p.Ile261Met)	LOC102723690, LOC126859811 +1 more (I261M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546458	NM_153235.4(TXLNB):c.631C>G (p.Arg211Gly)	LOC102723690, TXLNB (R211G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538910	NM_153235.4(TXLNB):c.530G>A (p.Arg177His)	LOC102723690, TXLNB (R177H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557306	NM_153235.4(TXLNB):c.383A>G (p.Asn128Ser)	LOC102723690, TXLNB (N128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306812	NM_153235.4(TXLNB):c.380G>A (p.Ser127Asn)	LOC102723690, TXLNB (S127N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250930	NM_153235.4(TXLNB):c.376G>A (p.Val126Ile)	LOC102723690, TXLNB (V126I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519271	NM_153235.4(TXLNB):c.337C>G (p.Pro113Ala)	LOC102723690, TXLNB (P113A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217727	NM_153235.4(TXLNB):c.319G>A (p.Glu107Lys)	LOC102723690, TXLNB (E107K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549292	NM_153235.4(TXLNB):c.278A>C (p.Glu93Ala)	TXLNB, LOC102723690 (E93A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279780	NM_153235.4(TXLNB):c.221C>G (p.Ala74Gly)	LOC102723690, TXLNB (A74G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595361	NM_153235.4(TXLNB):c.203A>T (p.Asn68Ile)	TXLNB (N68I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339290	NM_153235.4(TXLNB):c.200T>C (p.Ile67Thr)	LOC102723690, TXLNB (I67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589410	NM_153235.4(TXLNB):c.196A>T (p.Ile66Phe)	TXLNB (I66F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238635	NM_153235.4(TXLNB):c.184C>A (p.Gln62Lys)	LOC102723690, TXLNB (Q62K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538507	NM_153235.4(TXLNB):c.96G>C (p.Lys32Asn)	LOC102723690, TXLNB (K32N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398176	NM_153235.4(TXLNB):c.25C>G (p.Leu9Val)	LOC102723690, TXLNB (L9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527297	GRCh37/hg19 6q24.1(chr6:139093282-140660265)	ABRACL, CCDC28A +5 more	Copy number gain	not specified	GUncertain significance
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 61