ClinVar for MedGen (Select 374033) - ClinVar

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Items: 35

	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 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 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 3047692	NM_004626.3(WNT11):c.198G>A (p.Met66Ile)	WNT11 (M66I)	Single nucleotide variant (missense variant)	WNT11-related disorder +1 more	GBenign/Likely benign
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 +1 more	GBenign/Likely benign
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
Select item 2628011	NM_016277.5(RAB23):c.17T>G (p.Met6Arg)	RAB23 (M6R)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2628010	NM_023014.1(PRAMEF2):c.1195C>T (p.Arg399Cys)	PRAMEF2 (R399C)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2628009	NM_001004749.2(OR51A7):c.64C>T (p.His22Tyr)	MMP26, OR51A7 (H22Y)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2628008	NM_001306080.2(LMO7):c.1883G>C (p.Arg628Thr)	LMO7 (R301T +3 more)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2628007	NM_006618.5(KDM5B):c.4364G>A (p.Arg1455His)	KDM5B (R1410H +3 more)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2628006	NM_005232.5(EPHA1):c.256A>T (p.Ile86Phe)	EPHA1 (I86F)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2627998	NM_001195637.2(CCDC179):c.25G>C (p.Glu9Gln)	LINC02718, CCDC179 (E9Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2627996	NM_006652.2(SPINT3):c.149C>T (p.Thr50Met)	SPINT3 (T50M)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2627995	NM_000369.5(TSHR):c.263C>T (p.Thr88Ile)	TSHR (T88I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2627994	NM_012217.3(TPSD1):c.282G>C (p.Arg94Ser)	TPSD1 (R94S)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2627993	NM_001008536.2(TCHHL1):c.1529T>C (p.Val510Ala)	TCHHL1 (V510A)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2627992	NM_007271.4(STK38):c.630_631del (p.His210fs)	STK38 (H210fs)	Microsatellite (frameshift variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2245482	NM_032208.3(ANTXR1):c.1331G>A (p.Arg444Gln)	ANTXR1 (R444Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex +1 more	GUncertain significance
Select item 2184324	NM_018419.3(SOX18):c.766C>T (p.Arg256Trp)	SOX18 (R256W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1802156	NM_025216.3(WNT10A):c.[487C>T];[682T>A]			Odonto-onycho-dermal dysplasia	GPathogenic
Select item 1402802	NM_003722.5(TP63):c.1530G>T (p.Met510Ile)	TP63 (M331I +4 more)	Single nucleotide variant (missense variant +1 more)	Bladder exstrophy-epispadias-cloacal extrophy complex +3 more	GUncertain significance
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 586256	NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)	PKD1 (P731L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374407	NM_002202.3(ISL1):c.137C>G (p.Ala46Gly)	ISL1 (A46G)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 373894	NM_002202.3(ISL1):c.479-4G>A	ISL1	Single nucleotide variant (intron 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 189357	NM_030753.5(WNT3):c.638G>A (p.Gly213Asp)	LRRC37A2, WNT3 (G213D)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 189356	NM_014045.5(LRP10):c.754G>A (p.Gly252Ser)	LRP10 (G252S)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 189354	NM_003468.4(FZD5):c.267G>A (p.Met89Ile)	FZD5 (M89I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 189352	NM_004626.3(WNT11):c.947G>A (p.Arg316His)	WNT11 (R316H)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 189351	NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp)	WNT10A (R163W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 189350	NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr)	LOC126806608, WNT7A (A163T)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 189349	NM_006522.4(WNT6):c.570G>A (p.Arg190=)	WNT6	Single nucleotide variant (synonymous variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GLikely benign
Select item 189347	NM_030753.5(WNT3):c.271T>C (p.Cys91Arg)	LRRC37A2, WNT3 (C91R)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GLikely pathogenic

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Items: 35