TLX3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 2344341	NM_021025.4(TLX3):c.97C>T (p.Pro33Ser)	TLX3 (P33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593131	NM_021025.4(TLX3):c.157G>A (p.Gly53Ser)	TLX3 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211136	NM_021025.4(TLX3):c.188T>C (p.Phe63Ser)	TLX3 (F63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178083	NM_021025.4(TLX3):c.199G>C (p.Gly67Arg)	TLX3 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405714	NM_021025.4(TLX3):c.350T>C (p.Val117Ala)	TLX3 (V117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345567	NM_021025.4(TLX3):c.397C>T (p.Arg133Cys)	TLX3 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178084	NM_021025.4(TLX3):c.424G>A (p.Ala142Thr)	TLX3 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981888	NM_021025.4(TLX3):c.695A>G (p.Glu232Gly)	TLX3 (E232G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2402829	NM_021025.4(TLX3):c.727C>A (p.Leu243Met)	TLX3 (L243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383218	NM_021025.4(TLX3):c.853C>T (p.Pro285Ser)	TLX3 (P285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 27