ClinVar for OMIM (Select 300928) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671901	NM_012216.4(MID2):c.1106T>C (p.Leu369Pro)	LOC101928335, MID2 (L349P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2442092	NM_012216.4(MID2):c.308T>G (p.Ile103Ser)	MID2 (I103S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2433749	NM_012216.4(MID2):c.1414A>G (p.Arg472Gly)	LOC101928335, MID2 (R452G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2431776	NM_012216.4(MID2):c.1090G>T (p.Ala364Ser)	LOC101928335, MID2 (A344S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 1709693	NM_012216.4(MID2):c.1131_1133delinsAGA (p.Asp377_Ala378delinsGluAsp)	LOC101928335, MID2	Indel (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 1343245	NM_012216.4(MID2):c.1432C>T (p.Arg478Ter)	LOC101928335, MID2 (R458* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 101	GLikely pathogenic
Select item 1321169	NM_012216.4(MID2):c.180A>C (p.Ser60=)	MID2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 101	GBenign
Select item 1301698	NM_012216.4(MID2):c.373A>G (p.Thr125Ala)	MID2 (T105A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 1047926	NM_012216.4(MID2):c.2070del (p.Phe691fs)	LOC101928335, MID2 (F641fs +3 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 101	GLikely pathogenic
Select item 988733	NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)	USP9X (P1137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 818208	NM_012216.4(MID2):c.1447del (p.Ser483fs)	LOC101928335, MID2 (S453fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 101	GPathogenic
Select item 800883	NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)	LOC101928335, MID2 (G520S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GConflicting classifications of pathogenicity
Select item 548625	NM_012216.4(MID2):c.491G>A (p.Arg164His)	MID2 (R164H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 224103	NM_012216.4(MID2):c.448G>T (p.Ala150Ser)	MID2 (A150S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101 +1 more	GUncertain significance
Select item 143857	NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)	LOC101928335, MID2 (R347Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GPathogenic