SUB14445977 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236724	NM_014482.3(BMP10):c.599C>G (p.Thr200Ser)	BMP10 (T200S)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 3042664	NM_001407.3(CELSR3):c.9566G>A (p.Arg3189Gln)	CELSR3 (R3189Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 801350	NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His)	CELSR3 (R3033H)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 3142105	NM_001407.3(CELSR3):c.5875G>A (p.Ala1959Thr)	CELSR3 (A1959T)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex +1 more	GConflicting classifications of pathogenicity
Select item 1402802	NM_003722.5(TP63):c.1530G>T (p.Met510Ile)	TP63 (M331I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 3047692	NM_004626.3(WNT11):c.198G>A (p.Met66Ile)	WNT11 (M66I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 3236723	NM_001371589.1(WIZ):c.4637A>G (p.Gln1546Arg)	WIZ (Q1356R +4 more)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 328424	NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys)	CYP4F22 (R54C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 2672914	NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)	CELSR1 (R2438Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign