C5567229[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065808	NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)	TRAPPC12 (D84fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 3068100	NM_016030.6(TRAPPC12):c.664G>T (p.Asp222Tyr)	TRAPPC12 (D222Y)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance