ClinVar for OMIM (Select 116930) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17075	NM_005215.4(DCC):c.503T>C (p.Met168Thr)	DCC (M168T)	Single nucleotide variant (missense variant)	Esophageal carcinoma, somatic	GPathogenic
Select item 9986	NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)	L1CAM (C264Y +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GPathogenic