Related gene-specific medical variations for Gene (Select 23476) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393157	NM_001379291.1(BRD4):c.3889CAGCAA[3] (p.Gln1300_Ala1301insGlnGln)	BRD4	Microsatellite	Cornelia de Lange syndrome 6	GUncertain significance
Select item 3242728	NC_000019.9:g.(?_15379191)_(15386256_?)del	BRD4	Deletion	not provided	GPathogenic
Select item 2920709	NM_001379291.1(BRD4):c.2728dup (p.Gln910fs)	BRD4 (Q910fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 6	GLikely pathogenic
Select item 2920692	NM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs)	BRD4 (Q1105fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 6	GLikely pathogenic
Select item 1992409	NM_001379291.1(BRD4):c.2800_2808del (p.Gln934_Gln936del)	BRD4	Deletion (inframe_deletion)	De Lange syndrome	GUncertain significance
Select item 1992306	NM_001379291.1(BRD4):c.1946C>G (p.Pro649Arg)	BRD4 (P649R)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 1341941	NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser)	BRD4 (T210S)	Single nucleotide variant (missense variant)	Cornelia de Lange-like syndrome	GUncertain significance
Select item 977428	NM_001379291.1(BRD4):c.710_711del (p.Pro237fs)	BRD4 (P237fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 6	GLikely pathogenic
Select item 599567	NM_001379291.1(BRD4):c.1856G>T (p.Ser619Ile)	BRD4 (S619I)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

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