C3280265[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 1033383	NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg)	MED23 (L1280R +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1033382	NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu)	MED23 (R1060L +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1032717	NM_004830.4(MED23):c.2832dup (p.Val945fs)	MED23 (V860fs +7 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 1032715	NM_004830.4(MED23):c.2176A>G (p.Asn726Asp)	MED23 (N641D +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1030847	NM_004830.4(MED23):c.1708T>G (p.Leu570Val)	MED23 (L523V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029420	NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)	MED23 (P309L +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GLikely pathogenic
Select item 2442027	NM_004830.4(MED23):c.1078-6T>G	MED23	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 18	GConflicting classifications of pathogenicity
Select item 211484	NM_004830.4(MED23):c.235C>T (p.Leu79Phe)	MED23 (L79F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance