Related gene-specific medical variations for Gene (Select 3020) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062006	NM_002107.7(H3-3A):c.134G>A (p.Gly45Asp)	H3-3A (G45D)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 1306290	NM_002107.7(H3-3A):c.20C>G (p.Thr7Ser)	H3-3A, LOC129932634 (T7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932067	NM_002107.7(H3-3A):c.185T>G (p.Leu62Arg)	H3-3A (L62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916527	NM_002107.7(H3-3A):c.131C>T (p.Pro44Leu)	H3-3A (P44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376435	NM_002107.7(H3-3A):c.83A>T (p.Lys28Met)	H3-3A (K28M)	Single nucleotide variant (missense variant)	Astrocytoma +1 more	GLikely pathogenic
Select item 376434	NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)	H3-3A (G34R)	Single nucleotide variant (missense variant)	Adrenal cortex carcinoma +3 more	GLikely pathogenic

ClinVar