ClinVar for Gene (Select 574028) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145896	NR_164161.1(CLLU1-AS1):n.63C>G	CLLU1, CLLU1-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3145894	NR_164161.1(CLLU1-AS1):n.121C>G	CLLU1, CLLU1-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3063231	GRCh37/hg19 12q21.33-22(chr12:92154559-93692934)x3	BTG1, C12orf74 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527724	GRCh37/hg19 12q21.33-22(chr12:91073628-92829926)	BTG1, CCER1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 563929	GRCh37/hg19 12q22(chr12:92816807-93103046)x3	CLLU1-AS1, C12orf74 +1 more	Copy number gain	not provided	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
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 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LOC130008424, LOC130008425 +169 more	Copy number loss	See cases	GLikely pathogenic