ClinVar for Gene (Select 126805723) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287902	NM_014663.3(KDM4A):c.910G>C (p.Val304Leu)	KDM4A, LOC126805723 (V304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2604321	NM_014663.3(KDM4A):c.880C>T (p.Arg294Cys)	KDM4A, LOC126805723 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554729	NM_014663.3(KDM4A):c.902A>G (p.Lys301Arg)	KDM4A, LOC126805723 (K301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

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