ClinVar for MedGen (Select 338020) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628005	NM_001163809.2(WDR81):c.1772G>A (p.Arg591His)	WDR81 (R591H)	Single nucleotide variant (missense variant +1 more)	Exstrophy-epispadias complex +1 more	GUncertain significance
Select item 2628004	NM_080764.4(ZNF280B):c.937G>A (p.Val313Met)	IGL, ZNF280B (V313M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2628003	NM_001080825.2(TMEM120B):c.605T>C (p.Val202Ala)	TMEM120B (V202A)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2628002	NM_018393.4(TCP11L1):c.391A>G (p.Ile131Val)	TCP11L1 (I131V)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2628001	NM_000968.4(RPL4):c.611G>T (p.Arg204Leu)	LOC126862157, RPL4 (R204L)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2628000	NM_001351695.2(INTS2):c.2132C>T (p.Pro711Leu)	INTS2 (P711L +1 more)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2627999	NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs)	HSD11B1, HSD11B1-AS1 (V227fs)	Insertion (frameshift variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2627997	NM_002212.4(EIF6):c.467A>G (p.Asn156Ser)	EIF6 (N137S +1 more)	Single nucleotide variant (missense variant +1 more)	Exstrophy-epispadias complex	GUncertain significance
Select item 2519551	NM_015507.4(EGFL6):c.1343G>A (p.Arg448Gln)	EGFL6 (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1776619	NM_144997.7(FLCN):c.1621G>A (p.Ala541Thr)	FLCN (A541T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +2 more	GUncertain significance
Select item 134336	NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)	FANCE (P310Q)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex +2 more	GConflicting classifications of pathogenicity