"Baylor Genetics"[submitter] AND "FMR1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027987	NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter)	FMR1 (W395*)	Single nucleotide variant (nonsense +2 more)	Fragile X syndrome	GLikely pathogenic
Select item 1027988	NM_002024.6(FMR1):c.1282G>C (p.Asp428His)	FMR1 (D407H +1 more)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic

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