C4310817[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441585	NM_001368397.1(FRMPD4):c.630G>A (p.Leu210=)	FRMPD4	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 752101	NM_001368397.1(FRMPD4):c.2003C>A (p.Thr668Asn)	FRMPD4 (T628N +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104 +2 more	GConflicting classifications of pathogenicity
Select item 2441581	NM_001368397.1(FRMPD4):c.2233A>G (p.Thr745Ala)	FRMPD4 (T705A +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2689094	NM_001368397.1(FRMPD4):c.2257G>A (p.Glu753Lys)	FRMPD4 (E713K +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2370263	NM_001368397.1(FRMPD4):c.2932G>A (p.Asp978Asn)	FRMPD4 (D980N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2441579	NM_001368397.1(FRMPD4):c.3388G>C (p.Glu1130Gln)	FRMPD4 (E1090Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441582	NM_001368397.1(FRMPD4):c.3505G>A (p.Ala1169Thr)	FRMPD4 (A1129T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441584	NM_001368397.1(FRMPD4):c.3641A>G (p.Gln1214Arg)	FRMPD4 (Q1174R +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441583	NM_001368397.1(FRMPD4):c.3779C>G (p.Pro1260Arg)	FRMPD4 (P1220R +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441580	NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)	FRMPD4 (R1248Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance