CN372879[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804154	NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)	GABBR1 (G496D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804152	NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)	GABBR1 (A358T +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804147	NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	GABBR1 (A220V +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 1804153	NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)	GABBR1 (E191D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic

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