C4310817[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031299	NM_001368397.1(FRMPD4):c.422+9C>T	FRMPD4	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1031296	NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg)	FRMPD4 (P493R +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1031297	NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu)	FRMPD4 (P606L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1032633	NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val)	FRMPD4 (A720V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104 +1 more	GUncertain significance
Select item 986235	NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro)	FRMPD4 (S873P +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104 +1 more	GUncertain significance
Select item 1032634	NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met)	FRMPD4 (L1016M +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1031298	NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe)	FRMPD4 (Y1054F +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104 +1 more	GUncertain significance
Select item 1032635	NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=)	FRMPD4	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 104	GUncertain significance