ClinVar for Gene (Select 101928646) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Links from Gene

Items: 39