ClinVar for MedGen (Select 196656) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598976	NM_004115.4(FGF14):c.486dup (p.Arg163fs)	FGF14 (R116fs +8 more)	Duplication (frameshift variant)	Cleft palate +17 more	GLikely pathogenic
Select item 183343	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	FAM120AOS (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa +8 more	GLikely pathogenic
Select item 167818	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	VANGL1 (R175W +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +18 more	GConflicting classifications of pathogenicity
Select item 159315	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1 (W1280* +4 more)	Single nucleotide variant (nonsense)	Autism +19 more	GPathogenic
Select item 5302	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	TNFRSF13B (C104R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2 +21 more	GConflicting classifications of pathogenicity; risk factor
Select item 400	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E (R378C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +19 more	GPathogenic/Likely pathogenic

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