100996717[geneid] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 691867	NM_001364012.2:c.-164GGC[(66_517)]	NOTCH2NLC	Microsatellite	Tremor, hereditary essential, 6 +2 more	GPathogenic

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