C4748898[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526240	NM_020198.3(CCDC47):c.1211_1232dup (p.Ala411_Arg412insLysSerArgTer)	CCDC47	Duplication (nonsense +1 more)	Trichohepatoneurodevelopmental syndrome	GLikely pathogenic
Select item 1526209	NM_020198.3(CCDC47):c.669+5G>T	CCDC47	Single nucleotide variant (intron variant)	Trichohepatoneurodevelopmental syndrome	GUncertain significance