ClinVar (all) for Orgtrack (Select 505283) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403708	NCBI36/hg18 Yq11.223-11.23(chrY:23058178-26865159)		Copy number loss	See cases	GLikely benign
Select item 403707	NCBI36/hg18 Yq11.21-11.23(chrY:13031202-26716642)		Copy number loss	See cases	GPathogenic
Select item 203406	NCBI36/hg18 15p12-q13.1(chr15:6207329-26103882)x1		Copy number loss	See cases	GPathogenic
Select item 155271	GRCh38/hg38 2q22.1(chr2:139896665-140201444)x3	LINC01853	Copy number gain	See cases	GUncertain significance
Select item 154564	GRCh38/hg38 17q25.3(chr17:82911614-83048826)x1	B3GNTL1, LOC121852957 +3 more	Copy number loss	See cases	GUncertain significance
Select item 154563	GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1	DMRT1, DMRT2 +61 more	Copy number loss	See cases	GPathogenic
Select item 154562	GRCh38/hg38 16p13.2-13.13(chr16:10012281-10426437)x3	ATF7IP2, GRIN2A +14 more	Copy number gain	See cases	GUncertain significance
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 154557	GRCh38/hg38 3p26.3(chr3:190587-608819)x1	CHL1, CHL1-AS1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 146894	GRCh38/hg38 9p24.3(chr9:204104-343954)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	LOC130062763, LOC130062764 +288 more	Copy number loss	See cases	GPathogenic
Select item 146888	GRCh38/hg38 8p12(chr8:35500597-36370018)x1	LOC101929550, LOC126860352 +2 more	Copy number loss	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 146885	GRCh38/hg38 18q23(chr18:76406716-76539447)x3	LINC00908, LOC125371440 +17 more	Copy number gain	See cases	GBenign
Select item 146884	GRCh38/hg38 7q11.21(chr7:62570287-63525125)x3	LOC100287704, LOC100287834 +1 more	Copy number gain	See cases	GBenign
Select item 146881	GRCh38/hg38 18q22.3(chr18:74416892-74651188)x3	CNDP1, CNDP2 +14 more	Copy number gain	See cases	GLikely benign
Select item 146880	GRCh38/hg38 4q35.2(chr4:189792437-190018234)x1	FRG1, FRG1-DT +3 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146878	GRCh38/hg38 4q34.1(chr4:173734069-173820899)x3		Copy number gain	See cases	GPathogenic
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 146875	GRCh38/hg38 4q22.1(chr4:91475388-92263153)x3	CCSER1, LNCPRESS2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 57388	GRCh38/hg38 1p35.2(chr1:30116821-30696608)x1	LOC126805678, LOC126805679 +5 more	Copy number loss	See cases	GUncertain significance
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 32783	GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	ATP2A1, ATP2A1-AS1 +28 more	Copy number loss	See cases	GPathogenic
Select item 31952	GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1	LOC122889016, LINC01237 +2 more	Copy number loss	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 29