KAT14[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2361110	NM_001392073.1(KAT14):c.1394A>G (p.Tyr465Cys)	KAT14 (Y465C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402155	NM_001392073.1(KAT14):c.1396G>A (p.Glu466Lys)	KAT14 (E467K +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 2205303	NM_001392073.1(KAT14):c.1744A>G (p.Met582Val)	KAT14 (M583V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251994	NM_001392073.1(KAT14):c.1778C>T (p.Thr593Ile)	KAT14 (T593I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341747	NM_001392073.1(KAT14):c.2007G>C (p.Gln669His)	KAT14 (Q670H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248068	NM_001392073.1(KAT14):c.2291A>G (p.Tyr764Cys)	KAT14 (Y736C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367731	NM_001392073.1(KAT14):c.2338C>T (p.Arg780Trp)	KAT14 (R759W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar