ClinVar for MedGen (Select 481895) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065162	NM_004830.4(MED23):c.3982C>A (p.Arg1328Ser)	MED23 (R1199S +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 2442027	NM_004830.4(MED23):c.1078-6T>G	MED23	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1801051	NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)	MED23 (L758P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699040	NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser)	MED23 (R1000S +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GUncertain significance
Select item 1327491	NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)	MED23 (Q646R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 1327490	NM_004830.4(MED23):c.539C>A (p.Ala180Asp)	MED23 (A180D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327489	NM_004830.4(MED23):c.382G>A (p.Gly128Arg)	MED23 (G128R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 1327487	NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)	MED23 (Y169C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 1327414	NM_004830.4(MED23):c.224del (p.Arg75fs)	MED23 (R51fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 18	Gnot provided
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)	Intellectual disability, autosomal recessive 18 +1 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 802270	NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)	MED23 (R1271C +7 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 620500	NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)	MED23 (S1124* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 18 +1 more	GPathogenic/Likely pathogenic
Select item 559910	NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)	MED23 (L790fs +4 more)	Microsatellite (frameshift variant +1 more)	Intellectual disability, autosomal recessive 18	GLikely pathogenic
Select item 547915	NM_004830.4(MED23):c.367C>T (p.Arg123Trp)	MED23 (R123W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 441025	NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)	MED23 (I812T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	Gnot provided
Select item 437437	NM_004830.4(MED23):c.670C>G (p.Arg224Gly)	MED23 (R224G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 435850	NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)	MED23 (L1327F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432201	NM_004830.4(MED23):c.4080G>T (p.Val1360=)	MED23	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 211484	NM_004830.4(MED23):c.235C>T (p.Leu79Phe)	MED23 (L79F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18 +2 more	GUncertain significance
Select item 191215	NM_004830.4(MED23):c.479T>C (p.Leu160Pro)	MED23 (L160P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 143193	NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)	MED23 (R1330* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 143192	NM_004830.4(MED23):c.3638A>G (p.His1213Arg)	MED23 (H1213R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 18	GPathogenic
Select item 136419	NM_000045.4(ARG1):c.270C>T (p.Asn90=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency +1 more	GBenign
Select item 30442	NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)	MED23 (R617Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 29