LOC126861665[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	LOC130009086, LOC130009087 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	LOC130009051, LOC130009052 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	LOC130009168, LOC130009169 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1184290	NC_000012.12:g.123628460_123712468dup	ATP6V0A2, EIF2B1 +6 more	Duplication	not provided	GUncertain significance
Select item 2607921	NM_001516.5(GTF2H3):c.697C>G (p.Pro233Ala)	GTF2H3, LOC126861665 (P190A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103093	NM_001516.5(GTF2H3):c.787G>A (p.Glu263Lys)	GTF2H3, LOC126861665 (E220K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218040	NM_001516.5(GTF2H3):c.793G>T (p.Gly265Cys)	GTF2H3, LOC126861665 (G224C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103094	NM_001516.5(GTF2H3):c.887T>C (p.Val296Ala)	GTF2H3, LOC126861665 (V296A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance