Related gene-specific medical variations for Gene (Select 27328) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689667	NM_032968.5(PCDH11X):c.3385C>A (p.Gln1129Lys)	PCDH11X (Q1092K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685756	GRCh37/hg19 Xq21.31(chrX:90757308-91142616)x2	PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 1808153	GRCh37/hg19 Xq21.31(chrX:90926834-91135064)x2	PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 1340863	GRCh37/hg19 Xq21.31(chrX:90943434-91397723)x3	PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 687904	GRCh37/hg19 Xq21.31(chrX:90926826-91393737)x2	PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 564870	GRCh37/hg19 Xq21.31(chrX:91281524-91385275)x0	PCDH11X	Copy number loss	not provided	GUncertain significance
Select item 564869	GRCh37/hg19 Xq21.31(chrX:91166156-91737877)x0	PCDH11X	Copy number loss	not provided	GUncertain significance
Select item 394529	GRCh37/hg19 Xq21.31(chrX:91038450-91519706)x3	PCDH11X	Copy number gain	See cases	GLikely benign
Select item 162139	GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1	PCDH11X	Copy number loss	See cases	GBenign
Select item 154567	GRCh38/hg38 Xq21.31(chrX:92179302-92264623)x3	PCDH11X	Copy number gain	See cases	GBenign
Select item 153196	GRCh38/hg38 Xq21.31-21.32(chrX:92274305-92819255)x1	PCDH11X	Copy number loss	See cases	GLikely benign
Select item 151871	GRCh38/hg38 Xq21.31(chrX:92499118-92542606)x3	PCDH11X	Copy number gain	See cases	GBenign
Select item 151776	GRCh38/hg38 Xq21.31(chrX:91726484-92134459)x3	PCDH11X	Copy number gain	See cases	GLikely benign
Select item 150749	GRCh38/hg38 Xq21.31(chrX:91485552-91880155)x2	PCDH11X	Copy number gain	See cases	GLikely benign
Select item 150715	GRCh38/hg38 Xq21.31(chrX:91946774-91977012)x1	PCDH11X	Copy number loss	See cases	GLikely benign
Select item 149378	GRCh38/hg38 Xq21.31(chrX:91946774-91984203)x0	PCDH11X	Copy number loss	See cases	GLikely benign
Select item 145207	GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1	PCDH11X	Copy number gain	See cases	GBenign