"ISCA site 4"[submitter] AND "CNTNAP2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 146810	GRCh38/hg38 7q35(chr7:146237454-146437866)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 150738	GRCh38/hg38 7q35(chr7:146372225-146496919)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 149740	GRCh38/hg38 7q35(chr7:146529302-146557642)x3	CNTNAP2	Copy number gain	See cases	GLikely benign
Select item 154962	GRCh38/hg38 7q35(chr7:146748837-146984974)x1	CNTNAP2, LOC123956262 +1 more	Copy number loss	See cases	GUncertain significance
Select item 145312	GRCh38/hg38 7q35(chr7:146829009-147037760)x1	CNTNAP2	Copy number loss	See cases	GUncertain significance
Select item 150868	GRCh38/hg38 7q35(chr7:146884454-146966144)x3	CNTNAP2	Copy number gain	See cases	GUncertain significance
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 more	Copy number loss	See cases	GPathogenic