ClinVar for OMIM (Select 600464) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209574	NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)	IQSEC2 (A145V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 222035	NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)	FRMD4A (G749fs +3 more)	Duplication (frameshift variant)	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	GPathogenic
Select item 56846	NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	TBC1D24 (F229S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16 +4 more	GPathogenic
Select item 10865	NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)	IQSEC2 (R359C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 10864	NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln)	IQSEC2 (R758Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 10863	NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro)	IQSEC2 (Q801P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 10862	NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)	IQSEC2 (R863W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 48	NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)	TBC1D24 (D147H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic