ClinVar (all) for Orgtrack (Select 509728) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370393	GRCh38/hg38 Xp22.31(chrX:7666592-8147112)x3	LOC121627957, LOC125446266 +8 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370392	GRCh38/hg38 Xp22.33(chrX:1116864-1308697)x3	CRLF2, CSF2RA +1 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370391	GRCh38/hg38 Xq25(chrX:124042544-124133101)x2	LOC129391312, STAG2	Copy number gain	Mullegama-Klein-Martinez syndrome	GLikely pathogenic
Select item 3370390	GRCh38/hg38 Xp11.22(chrX:50770594-51083187)x2	BMP15, LOC121627972 +2 more	Copy number gain	Intellectual disability	GLikely pathogenic
Select item 3370389	GRCh38/hg38 Xq28(chrX:154348522-154594454)x3	ATP6AP1, ATP6AP1-DT +53 more	Copy number gain	Intellectual disability, X-linked 41	GPathogenic
Select item 3370388	GRCh38/hg38 Xq26.1-26.2(chrX:130662822-131826589)x0	ARHGAP36, ENOX2 +37 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3370387	GRCh38/hg38 Xq24-25(chrX:119043046-123885987)x2	AKAP14, ATP1B4 +108 more	Copy number gain	Intellectual disability	GPathogenic
Select item 3370386	GRCh38/hg38 Xq21.31(chrX:87061431-87518338)x2	KLHL4, LOC126863287	Copy number gain	Intellectual disability	GLikely benign
Select item 3370385	GRCh38/hg38 Xq13.3-21.1(chrX:76091905-77381427)x3	LOC113875039, LOC130068454 +6 more	Copy number gain	Intellectual disability	GLikely benign
Select item 3370384	GRCh38/hg38 Xp22.33(chrX:1596849-2485506)x3	AKAP17A, ASMT +1 more	Copy number gain	Intellectual disability	GLikely benign
Select item 3370383	GRCh38/hg38 Xq25-26.1(chrX:129318405-129567341)x2	LOC113875008, OCRL +1 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370382	GRCh38/hg38 Xq25-26.1(chrX:128513670-130118616)x2	APLN, BCORL1 +57 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370381	GRCh38/hg38 Xq21.32(chrX:93234473-93671220)x3	LOC126863289, NAP1L3	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370380	GRCh38/hg38 Xq24(chrX:119539765-119707314)x0	LOC130068596, LOC130068597 +18 more	Copy number loss	Syndromic X-linked intellectual disability Nascimento type	GPathogenic
Select item 3370379	GRCh38/hg38 Xp11.3(chrX:46270996-47571920)x2	ARAF, CDK16 +67 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370378	GRCh38/hg38 Xp11.4(chrX:38632286-38688697)x2	LOC130068099, TSPAN7	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370377	GRCh38/hg38 Xp11.4(chrX:38632286-38688697)x2	LOC130068099, TSPAN7	Copy number loss	Intellectual disability	GUncertain significance
Select item 3370376	GRCh38/hg38 Xp21.2(chrX:30859628-31121878)x2	DMD, FTHL17 +5 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370375	GRCh38/hg38 Xp22.13-22.12(chrX:19082709-19533992)x3	ADGRG2, LOC130068003 +4 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370374	GRCh38/hg38 Xp22.2(chrX:13719233-13884628)x2	GPM6B, LOC126863212 +5 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370373	GRCh38/hg38 Xp22.31(chrX:6787227-7351587)x3	LOC113875037, LOC130067909 +12 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370372	GRCh38/hg38 Xp22.31(chrX:7852595-8327609)x2	LOC106029241, LOC121627957 +9 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370371	GRCh38/hg38 Xp22.31(chrX:6634671-8147112)x2	LOC113875037, LOC121627957 +24 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370370	GRCh38/hg38 Xp22.31(chrX:7837966-8196762)x2	LOC106029241, LOC121627957 +10 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic

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Items: 25