ClinVar for MedGen (Select 108148) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570677	NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	CUL9 (P911L)	Single nucleotide variant (missense variant)	Abnormal facial shape +14 more	GUncertain significance
Select item 2570675	NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	CUL9 (R2413W)	Single nucleotide variant (missense variant)	Abnormal facial shape +14 more	GUncertain significance
Select item 1320301	NM_145331.3(MAP3K7):c.745C>T (p.Pro249Ser)	MAP3K7 (P249S)	Single nucleotide variant (missense variant)	Delayed skeletal maturation	GLikely pathogenic
Select item 267973	46;X;inv(X)(q22.3q26)		Inversion	Delayed skeletal maturation +1 more	GUncertain significance
Select item 267834	46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn		Translocation	Abnormal facial skeleton morphology +18 more	GLikely pathogenic
Select item 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +8 more	GPathogenic/Likely pathogenic

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