ClinVar for MedGen (Select 78617) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802628	NM_033163.5(FGF8):c.506C>T (p.Ala169Val)	FGF8 (A65V +4 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 1	GLikely benign
Select item 801743	NM_001374353.1(GLI2):c.149-274C>G	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 1 +1 more	GBenign
Select item 689364	NM_007129.5(ZIC2):c.*954T>A	ZIC2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 260799	NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn)	CDON (I1221N +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 1 +3 more	GBenign
Select item 259723	NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)	GLI2 (R720H +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +4 more	GConflicting classifications of pathogenicity
Select item 31575	NM_002048.3(GAS1):c.776G>A (p.Gly259Glu)	GAS1 (G259E)	Single nucleotide variant (missense variant)	Holoprosencephaly 1	GUncertain significance
Select item 31574	NM_002048.3(GAS1):c.599C>G (p.Thr200Arg)	GAS1 (T200R)	Single nucleotide variant (missense variant)	Holoprosencephaly 1	GUncertain significance
Select item 9126	NM_033163.5(FGF8):c.686C>T (p.Thr229Met)	FGF8 (T229M +4 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 1 +1 more	GConflicting classifications of pathogenicity

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