C1836336[trait identifier] AND "Genomics England Pilot Project, Genomi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184559	NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs)	FGD4 (D136fs +4 more)	Deletion (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GLikely pathogenic
Select item 1184560	NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln)	FGD4 (R239Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance