C5436574[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064508	NM_001353345.2(SETD1B):c.386T>G (p.Val129Gly)	SETD1B (V129G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 977480	NM_001353345.2(SETD1B):c.2932C>T (p.Gln978Ter)	SETD1B	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 977481	NM_001353345.2(SETD1B):c.3964C>T (p.Gln1322Ter)	SETD1B	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 977511	NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)	SETD1B (R1885W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 977512	NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys)	SETD1B (R1902C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 977482	NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)	SETD1B	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic

ClinVar