ClinVar for Gene (Select 130007602) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261154	NM_020183.6(BMAL2):c.7G>A (p.Ala3Thr)	BMAL2, LOC130007602 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154023	GRCh38/hg38 12p11.23-11.22(chr12:27128969-27636702)x3	BMAL2, BMAL2-AS1 +27 more	Copy number gain	See cases	GUncertain significance
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 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 150105	GRCh38/hg38 12p11.23-11.22(chr12:27153387-27607219)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	GUncertain significance
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 146584	GRCh38/hg38 12p11.23(chr12:27225978-27575769)x3	BMAL2, BMAL2-AS1 +18 more	Copy number gain	See cases	GBenign
Select item 145487	GRCh38/hg38 12p11.23-11.22(chr12:27153357-27607134)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	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 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59014	GRCh38/hg38 12p11.23-11.22(chr12:27161598-27642483)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 58209	GRCh38/hg38 12p11.23-11.22(chr12:27192518-27615518)x3	BMAL2, BMAL2-AS1 +25 more	Copy number gain	See cases	GUncertain significance