ClinVar for MedGen (Select 78596) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683530	NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr)	FLNA (D191Y)	Single nucleotide variant (missense variant)	Hypotonia +3 more	GUncertain significance
Select item 981464	NM_024426.6(WT1):c.1437A>G (p.Thr479=)	WT1	Single nucleotide variant (synonymous variant +2 more)	Disorder of sexual differentiation +1 more	GConflicting classifications of pathogenicity
Select item 816903	NM_001395413.1(POR):c.1934A>G (p.Asp645Gly)	POR (D595G +2 more)	Single nucleotide variant (missense variant)	Ambiguous genitalia	GUncertain significance
Select item 523570	NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)	FREM2 (R2243*)	Single nucleotide variant (nonsense)	Finger syndactyly +9 more	GPathogenic/Likely pathogenic
Select item 440463	NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)	MAGEL2 (Q666fs)	Deletion (frameshift variant)	Generalized hypotonia +4 more	GPathogenic
Select item 267868	46;XY;inv(9)(q22.3q34.11)dn		Inversion	Ambiguous genitalia +2 more	GPathogenic
Select item 11728	NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX (R2348* +1 more)	Single nucleotide variant (nonsense)	Microcephaly +9 more	GPathogenic

ClinVar