"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700606	NM_014921.5(ADGRL1):c.3517C>T (p.Arg1173Ter)	ADGRL1, ADGRL1-AS1 (R1173* +1 more)	Single nucleotide variant (nonsense)	Specific learning disability +2 more	GPathogenic
Select item 1700604	NM_014921.5(ADGRL1):c.3476C>T (p.Ser1159Phe)	ADGRL1, ADGRL1-AS1 (S1159F +1 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic
Select item 1700600	NM_014921.5(ADGRL1):c.3440T>C (p.Met1147Thr)	ADGRL1, ADGRL1-AS1 (M1147T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic
Select item 1700601	NM_014921.5(ADGRL1):c.3391C>T (p.Arg1131Ter)	ADGRL1, ADGRL1-AS1 (R1131* +1 more)	Single nucleotide variant (nonsense)	Specific learning disability +1 more	GPathogenic
Select item 1700599	NM_014921.5(ADGRL1):c.2998T>C (p.Trp1000Arg)	ADGRL1, ADGRL1-AS1 (W1000R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic
Select item 1700605	NM_014921.5(ADGRL1):c.2049dup (p.Glu684fs)	ADGRL1, ADGRL1-AS1 (E684fs +1 more)	Duplication (frameshift variant)	Seizure +3 more	GPathogenic
Select item 1700607	NM_014921.5(ADGRL1):c.1022A>G (p.Tyr341Cys)	ADGRL1, ADGRL1-AS1 (Y341C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 1700602	NM_014921.5(ADGRL1):c.819G>A (p.Trp273Ter)	ADGRL1, ADGRL1-AS1 (W273* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic