ClinVar for MedGen (Select 155436) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982437	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	BRWD1 (Q1858L)	Single nucleotide variant (missense variant)	Bronchiectasis +5 more	GPathogenic/Likely pathogenic
Select item 982436	NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	BRWD1 (H175Y)	Single nucleotide variant (missense variant)	Bronchiectasis +5 more	GConflicting classifications of pathogenicity
Select item 982435	NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser)	BRWD1, LOC130066680 (G56S)	Single nucleotide variant (missense variant)	Bronchiectasis +4 more	GUncertain significance
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect +14 more	GConflicting classifications of pathogenicity
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Pectus excavatum +22 more	GPathogenic
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Downturned corners of mouth +24 more	GUncertain significance
Select item 267914	46;XY;t(9;14)(p21;q12)dn		Translocation	Bilateral lung agenesis +9 more	GUncertain significance
Select item 267852	46;XY;t(2;14)(p23;q13)dn		Translocation	Mild conductive hearing impairment +12 more	GUncertain significance
Select item 267839	46;XY;inv(6)(q22.2q27)dn		Inversion	Hypertelorism +20 more	GPathogenic

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