BMAL2[gene] - ClinVar

Search results

Items: 90

	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 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	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 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 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
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 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 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 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
Select item 146584	GRCh38/hg38 12p11.23(chr12:27225978-27575769)x3	BMAL2, BMAL2-AS1 +18 more	Copy number gain	See cases	GBenign
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 1693605	NM_020183.6(BMAL2):c.31+11413G>A	BMAL2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
Select item 1693590	NM_020183.6(BMAL2):c.31+13565T>C	BMAL2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2548234	NM_020183.6(BMAL2):c.47A>T (p.Glu16Val)	BMAL2 (E16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261157	NM_020183.6(BMAL2):c.50A>G (p.Glu17Gly)	BMAL2 (E17G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134468	NM_020183.6(BMAL2):c.142T>A (p.Phe48Ile)	BMAL2 (F48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134469	NM_020183.6(BMAL2):c.149G>A (p.Arg50Gln)	BMAL2 (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549041	NM_020183.6(BMAL2):c.160G>A (p.Gly54Arg)	BMAL2 (G65R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693591	NM_020183.6(BMAL2):c.285-60A>C	BMAL2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2521509	NM_020183.6(BMAL2):c.352C>T (p.Arg118Trp)	BMAL2 (R118W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134478	NM_020183.6(BMAL2):c.353G>A (p.Arg118Gln)	BMAL2 (R81Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261155	NM_020183.6(BMAL2):c.397A>G (p.Met133Val)	BMAL2 (M133V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261153	NM_020183.6(BMAL2):c.422C>T (p.Ala141Val)	BMAL2 (A104V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134480	NM_020183.6(BMAL2):c.439C>T (p.Leu147Phe)	BMAL2 (L147F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134479	NM_020183.6(BMAL2):c.439C>A (p.Leu147Ile)	BMAL2 (L133I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134481	NM_020183.6(BMAL2):c.493A>G (p.Asn165Asp)	BMAL2 (N117D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134482	NM_020183.6(BMAL2):c.575G>T (p.Gly192Val)	BMAL2 (G189V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486259	NM_020183.6(BMAL2):c.844T>C (p.Phe282Leu)	BMAL2, BMAL2-AS1 (F203L +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134483	NM_020183.6(BMAL2):c.853C>T (p.Arg285Trp)	BMAL2, BMAL2-AS1 (R248W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789045	NM_020183.6(BMAL2):c.888G>C (p.Glu296Asp)	BMAL2, BMAL2-AS1 (E282D +8 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134484	NM_020183.6(BMAL2):c.997G>C (p.Glu333Gln)	BMAL2, BMAL2-AS1 (E254Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134464	NM_020183.6(BMAL2):c.1015G>A (p.Asp339Asn)	BMAL2, BMAL2-AS1 (D291N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592768	NM_020183.6(BMAL2):c.1021A>G (p.Ser341Gly)	BMAL2, BMAL2-AS1 (S293G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516503	NM_020183.6(BMAL2):c.1162G>A (p.Ala388Thr)	BMAL2, BMAL2-AS1 (A354T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134465	NM_020183.6(BMAL2):c.1171A>G (p.Ile391Val)	BMAL2, BMAL2-AS1 (I354V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134467	NM_020183.6(BMAL2):c.1227T>G (p.His409Gln)	BMAL2, BMAL2-AS1 (H330Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481271	NM_020183.6(BMAL2):c.1331T>C (p.Phe444Ser)	BMAL2, BMAL2-AS1 (F365S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134470	NM_020183.6(BMAL2):c.1523G>A (p.Gly508Glu)	BMAL2, BMAL2-AS1 (G429E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549437	NM_020183.6(BMAL2):c.1534G>A (p.Gly512Ser)	BMAL2, BMAL2-AS1 (G461S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134471	NM_020183.6(BMAL2):c.1559T>C (p.Ile520Thr)	BMAL2, BMAL2-AS1 (I469T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134472	NM_020183.6(BMAL2):c.1620T>A (p.Ser540Arg)	BMAL2, BMAL2-AS1 (S489R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261156	NM_020183.6(BMAL2):c.1675A>G (p.Lys559Glu)	BMAL2, BMAL2-AS1 (K522E +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134473	NM_020183.6(BMAL2):c.1707G>C (p.Met569Ile)	BMAL2, BMAL2-AS1 (M566I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3134474	NM_020183.6(BMAL2):c.1739G>A (p.Ser580Asn)	BMAL2, BMAL2-AS1 (S546N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594230	NM_020183.6(BMAL2):c.1741A>G (p.Thr581Ala)	BMAL2, BMAL2-AS1 (T513A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3261159	NM_020183.6(BMAL2):c.1750G>A (p.Val584Ile)	BMAL2, BMAL2-AS1 (V533I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134475	NM_020183.6(BMAL2):c.1798G>A (p.Asp600Asn)	BMAL2, BMAL2-AS1 (D586N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134476	NM_020183.6(BMAL2):c.1844A>G (p.Asn615Ser)	BMAL2, BMAL2-AS1 (N547S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134477	NM_020183.6(BMAL2):c.1861G>T (p.Gly621Trp)	BMAL2, BMAL2-AS1 (G570W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261158	NM_020183.6(BMAL2):c.1865G>A (p.Gly622Asp)	BMAL2, BMAL2-AS1 (G543D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536000	NM_020183.6(BMAL2):c.1885T>A (p.Phe629Ile)	BMAL2, BMAL2-AS1 (F615I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536001	NM_020183.6(BMAL2):c.1887C>A (p.Phe629Leu)	BMAL2, BMAL2-AS1 (F581L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685051	GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4	BMAL2, CCDC91 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1706507	GRCh37/hg19 12p11.23(chr12:27281902-27796511)x3	SMCO2, STK38L +2 more	Copy number gain	See cases	GUncertain significance
Select item 1527701	GRCh37/hg19 12p11.23(chr12:27281902-27789635)	BMAL2, PPFIBP1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685020	GRCh37/hg19 12p11.23(chr12:27350549-27492738)x1	BMAL2, STK38L	Copy number loss	not provided	GUncertain significance
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443534	GRCh37/hg19 12p11.23(chr12:27293748-27796425)x0	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443267	GRCh37/hg19 12p11.23(chr12:27285092-27797629)x1	STK38L, BMAL2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442956	GRCh37/hg19 12p11.23(chr12:27281880-27793755)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442465	GRCh37/hg19 12p11.23(chr12:27285092-27797905)x1	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442409	GRCh37/hg19 12p11.23(chr12:27285092-27796425)x1	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GLikely benign
Select item 442372	GRCh37/hg19 12p11.23(chr12:27282008-27793637)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 442352	GRCh37/hg19 12p11.23(chr12:27278040-27789700)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GLikely benign
Select item 442254	GRCh37/hg19 12p11.23(chr12:27281902-27793637)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GLikely benign
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 393975	GRCh37/hg19 12p11.23(chr12:27306320-27788422)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 90