LOC129931323[gene] - ClinVar

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Search results

Items: 31

	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 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	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 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 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 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 145369	GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1	ANKRD34A, ANKRD35 +73 more	Copy number loss	See cases	GBenign
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	MIR5087, MIR6077 +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	LOC101927468, LOC106783502 +133 more	Copy number gain	See cases	GPathogenic

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Items: 31