100996717[geneid] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	ACP6, ANKRD34A +212 more	Copy number gain	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	ACP6, ANKRD34A +182 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	PRKAB2, RNVU1-27 +168 more	Copy number gain	See cases	GPathogenic
Select item 691867	NM_001364012.2:c.-164GGC[(66_517)]	NOTCH2NLC	Microsatellite	Tremor, hereditary essential, 6 +2 more	GPathogenic

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