C5231404[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320105	NM_000188.3(HK1):c.796G>A (p.Asp266Asn)	HK1 (D234N +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GLikely pathogenic
Select item 421007	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1 (S433L +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder +6 more	GPathogenic/Likely pathogenic