BMAL1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 709842	NM_001297719.2(BMAL1):c.6A>T (p.Ala2=)	BMAL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 929768	NM_001297719.2(BMAL1):c.18G>C (p.Met6Ile)	BMAL1 (M6I)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure	GUncertain significance
Select item 782713	NM_001297719.2(BMAL1):c.174T>C (p.His58=)	BMAL1	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2641616	NM_001297719.2(BMAL1):c.179+134G>A	BMAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3134457	NM_001297719.2(BMAL1):c.447C>A (p.His149Gln)	BMAL1 (H149Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554721	NM_001297719.2(BMAL1):c.533A>G (p.Lys178Arg)	BMAL1 (K135R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3261151	NM_001297719.2(BMAL1):c.542A>G (p.Asn181Ser)	BMAL1 (N164S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1341728	NM_001297719.2(BMAL1):c.602T>C (p.Ile201Thr)	BMAL1 (I158T +3 more)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 2599983	NM_001297719.2(BMAL1):c.694A>G (p.Ile232Val)	BMAL1 (I219V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134458	NM_001297719.2(BMAL1):c.695T>C (p.Ile232Thr)	BMAL1 (I215T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608254	NM_001297719.2(BMAL1):c.712C>G (p.Arg238Gly)	BMAL1 (R238G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134459	NM_001297719.2(BMAL1):c.815A>G (p.Lys272Arg)	BMAL1 (K229R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134460	NM_001297719.2(BMAL1):c.885G>T (p.Lys295Asn)	BMAL1 (K252N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134461	NM_001297719.2(BMAL1):c.905A>G (p.Asn302Ser)	BMAL1 (N288S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 738978	NM_001297719.2(BMAL1):c.942C>T (p.Leu314=)	BMAL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3134462	NM_001297719.2(BMAL1):c.982C>T (p.Pro328Ser)	BMAL1 (P284S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134463	NM_001297719.2(BMAL1):c.991G>T (p.Gly331Trp)	BMAL1 (G317W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134453	NM_001297719.2(BMAL1):c.1196T>C (p.Ile399Thr)	BMAL1 (I149T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134454	NM_001297719.2(BMAL1):c.1226A>G (p.Lys409Arg)	BMAL1 (K365R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261149	NM_001297719.2(BMAL1):c.1376C>T (p.Ser459Phe)	BMAL1 (S341F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476586	NM_001297719.2(BMAL1):c.1603C>T (p.Pro535Ser)	BMAL1 (P285S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261152	NM_001297719.2(BMAL1):c.1649C>T (p.Ser550Phe)	BMAL1 (S507F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134455	NM_001297719.2(BMAL1):c.1781G>A (p.Ser594Asn)	BMAL1 (S555N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641617	NM_001297719.2(BMAL1):c.1833T>C (p.Ala611=)	BMAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3134456	NM_001297719.2(BMAL1):c.1874C>A (p.Pro625Gln)	BMAL1 (P608Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 37