"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707499	NM_005444.3(CNOT9):c.136C>G (p.Arg46Gly)	CNOT9 (R46G)	Single nucleotide variant (missense variant +1 more)	CNOT9-associated neurodevelopmental disorder	GLikely pathogenic
Select item 74445	NM_005444.3(CNOT9):c.392C>T (p.Pro131Leu)	CNOT9 (P131L)	Single nucleotide variant (missense variant)	CNOT9-associated neurodevelopmental disorder	GLikely pathogenic
Select item 1707500	NM_005444.3(CNOT9):c.680G>A (p.Arg227His)	CNOT9 (R227H +1 more)	Single nucleotide variant (missense variant +1 more)	CNOT9-associated neurodevelopmental disorder +1 more	GLikely pathogenic
Select item 1706475	NM_005444.3(CNOT9):c.874C>T (p.Arg292Trp)	CNOT9 (R292W +1 more)	Single nucleotide variant (missense variant +1 more)	CNOT9-associated neurodevelopmental disorder +2 more	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic

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