ClinVar for MedGen (Select 1786150) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367146	NM_018303.6(EXOC2):c.1443+10C>T	EXOC2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 3367145	NM_018303.6(EXOC2):c.1049T>C (p.Leu350Ser)	EXOC2 (L350S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 1696509	NM_018303.6(EXOC2):c.-43-18972_-43-18956del	EXOC2, HUS1B (S38fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 1074298	NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)	EXOC2, LOC126859547 (L580S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 1074297	NM_018303.6(EXOC2):c.389G>A (p.Arg130His)	EXOC2 (R130H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Gno classifications from unflagged records
Select item 1074296	NM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter)	EXOC2 (R437*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Gno classifications from unflagged records

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