ClinVar for MedGen (Select 482359) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236381	NM_019885.4(CYP26B1):c.584G>A (p.Arg195Gln)	CYP26B1 (R120Q +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GUncertain significance
Select item 1809805	NM_019885.4(CYP26B1):c.86C>A (p.Ser29Ter)	CYP26B1 (S29*)	Single nucleotide variant (nonsense)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GLikely pathogenic
Select item 1310354	NM_019885.4(CYP26B1):c.344C>T (p.Thr115Ile)	CYP26B1 (T115I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 997465	NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr)	CYP26B1 (H370Y +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GUncertain significance
Select item 30448	NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro)	CYP26B1 (S146P +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GPathogenic
Select item 30447	NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu)	CYP26B1 (R363L +1 more)	Single nucleotide variant (missense variant)	Lethal occipital encephalocele-skeletal dysplasia syndrome	GPathogenic

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