"Illumina Laboratory Services, Illumina"[submitter] AND "FRMPD4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985069	NM_001368397.1(FRMPD4):c.572C>T (p.Ser191Leu)	FRMPD4 (S151L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104 +2 more	GUncertain significance
Select item 3062128	NM_001368397.1(FRMPD4):c.1071-1G>A	FRMPD4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 104	GLikely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic

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ClinVar