"GeneDx"[submitter] AND "TBL1X"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 60265	GRCh38/hg38 Xp22.31-22.2(chrX:9511509-10060397)x2	CLDN34, GPR143 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2136038	NM_005647.4(TBL1X):c.13G>A (p.Ala5Thr)	TBL1X (A5T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1239233	NM_005647.4(TBL1X):c.212-244T>A	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499189	NM_005647.4(TBL1X):c.337G>A (p.Ala113Thr)	TBL1X (A113T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366041	NM_005647.4(TBL1X):c.355G>A (p.Glu119Lys)	TBL1X (E119K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251514	NM_005647.4(TBL1X):c.358-134C>T	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221121	NM_005647.4(TBL1X):c.358-130G>A	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446128	NM_005647.4(TBL1X):c.499_504dup (p.Ala168_Thr169insAlaAla)	TBL1X	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3375659	NM_005647.4(TBL1X):c.505A>C (p.Thr169Pro)	TBL1X (T118P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810018	NM_005647.4(TBL1X):c.529A>C (p.Thr177Pro)	TBL1X (T126P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662849	NM_005647.4(TBL1X):c.597G>T (p.Glu199Asp)	TBL1X (E148D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233016	NM_005647.4(TBL1X):c.749+15G>A	TBL1X	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 8 +1 more	GBenign
Select item 2501383	NM_005647.4(TBL1X):c.766G>A (p.Ala256Thr)	TBL1X (A205T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253263	NM_005647.4(TBL1X):c.859A>C (p.Ser287Arg)	TBL1X (S236R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574420	NM_005647.4(TBL1X):c.905T>A (p.Leu302His)	TBL1X (L251H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695852	NM_005647.4(TBL1X):c.1054-9G>A	TBL1X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1704673	NM_005647.4(TBL1X):c.1068G>A (p.Trp356Ter)	TBL1X (W305* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1304073	NM_005647.4(TBL1X):c.1114+12G>T	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242671	NM_005647.4(TBL1X):c.1115-240G>A	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263600	NM_005647.4(TBL1X):c.1115-232A>G	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 560265	NM_005647.4(TBL1X):c.1237-3C>G	TBL1X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1290640	NM_005647.4(TBL1X):c.1312-74G>A	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372391	NM_005647.4(TBL1X):c.1477G>C (p.Glu493Gln)	TBL1X (E442Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693066	NM_005647.4(TBL1X):c.1486G>A (p.Val496Ile)	TBL1X (V445I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275493	NM_005647.4(TBL1X):c.1707+205C>T	TBL1X	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253612	GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1	ARSF, XG +28 more	Copy number loss	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 44