"ISCA site 1"[submitter] AND "EXOC4"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +342 more	Copy number loss	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154033	GRCh38/hg38 7q33(chr7:133279171-133684114)x1	EXOC4, LOC129389867 +3 more	Copy number loss	See cases	GUncertain significance
Select item 150924	GRCh38/hg38 7q33(chr7:133303807-133680784)x1	EXOC4, LOC129389867 +2 more	Copy number loss	See cases	GUncertain significance
Select item 150834	GRCh38/hg38 7q33(chr7:133709960-133963963)x1	EXOC4, LOC101928861 +1 more	Copy number loss	See cases	GUncertain significance
Select item 443243	GRCh37/hg19 7q33(chr7:133603973-134129003)x3	AKR1B1, EXOC4 +2 more	Copy number gain	See cases	GLikely benign
Select item 442889	GRCh37/hg19 7q33(chr7:133302761-133830628)x1	EXOC4, LOC101928861 +1 more	Copy number loss	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic