"Baylor Genetics"[submitter] AND "H3-3B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1183985	NM_005324.5(H3-3B):c.410_411del (p.Ter137CysextTer?)	H3-3B	Deletion (frameshift variant +1 more)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183984	NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)	H3-3B (I52N)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 1183983	NM_005324.5(H3-3B):c.68C>A (p.Thr23Lys)	H3-3B (T23K)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183982	NM_005324.5(H3-3B):c.28A>G (p.Lys10Glu)	H3-3B (K10E)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 985559	NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	H3-3B (R9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521247	NM_005324.5(H3-3B):c.23C>T (p.Ala8Val)	H3-3B (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

ClinVar