ClinVar for MedGen (Select 163083) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570664	NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)	SYVN1 (Y23C)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570663	NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)	SYVN1 (A13V)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 1700702	NM_004959.5(NR5A1):c.910G>A (p.Glu304Lys)	NR5A1 (E304K)	Single nucleotide variant (missense variant)	Hypospadias	GUncertain significance
Select item 1684500	NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)	DDX46 (N939S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypospadias +5 more	GUncertain significance
Select item 1339469	NM_020369.3(FSCN3):c.1154A>G (p.Asn385Ser)	FSCN3 (N385S)	Single nucleotide variant (missense variant)	Hypospadias	GUncertain significance
Select item 1339468	NM_004626.3(WNT11):c.922A>G (p.Ser308Gly)	WNT11 (S308G)	Single nucleotide variant (missense variant)	Hypospadias	GUncertain significance
Select item 1339467	NM_001300939.2(WNT8A):c.142A>G (p.Ile48Val)	WNT8A (I30V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypospadias	GUncertain significance
Select item 1339466	NM_018026.4(PACS1):c.2146G>A (p.Gly716Arg)	PACS1 (G716R)	Single nucleotide variant (missense variant)	Hypospadias	GUncertain significance
Select item 1339465	NM_012330.4(KAT6B):c.1688C>T (p.Pro563Leu)	KAT6B (P563L)	Single nucleotide variant (missense variant +1 more)	Hypospadias +1 more	GConflicting classifications of pathogenicity
Select item 1339464	NM_014390.4(SND1):c.2597G>A (p.Arg866His)	SND1 (R866H)	Single nucleotide variant (missense variant)	Hypospadias	GUncertain significance
Select item 419128	NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)	PIK3CA (R93Q)	Single nucleotide variant (missense variant)	Macrocephaly +3 more	GPathogenic