"Baylor Genetics"[submitter] AND "LOC126861834"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327108	NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val)	BIVM-ERCC5, ERCC5 +1 more (I1267V +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 1028078	NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del)	BIVM-ERCC5, ERCC5 +1 more (N1283del +1 more)	Deletion (inframe_deletion)	Cerebrooculofacioskeletal syndrome 3	GUncertain significance