LOC126861465[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 307756	NM_000900.5(MGP):c.*755G>T	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 883397	NM_000900.5(MGP):c.*720C>A	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307757	NM_000900.5(MGP):c.*615A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307758	NM_000900.5(MGP):c.*604A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307759	NM_000900.5(MGP):c.*552A>T	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307760	NM_000900.5(MGP):c.*538C>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GLikely benign
Select item 883398	NM_000900.5(MGP):c.*531T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307761	NM_000900.5(MGP):c.*476T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307762	NM_000900.5(MGP):c.*455del	LOC126861465, MGP	Deletion (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307763	NM_000900.5(MGP):c.*343G>A	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome +1 more	GBenign
Select item 307764	NM_000900.5(MGP):c.*339T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GBenign
Select item 307765	NM_000900.5(MGP):c.*315dup	LOC126861465, MGP	Duplication (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 307766	NM_000900.5(MGP):c.*251T>C	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome	GUncertain significance
Select item 881047	NM_000900.5(MGP):c.*206A>G	LOC126861465, MGP	Single nucleotide variant (3 prime UTR variant)	Keutel syndrome +1 more	GBenign/Likely benign

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Items: 27