C3554247[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664177	NM_001271938.2(MEGF8):c.3842G>A (p.Arg1281Gln)	MEGF8 (R1214Q +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2664178	NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)	MEGF8 (W1920R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance