ClinVar for Gene (Select 129999246) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic