"GeneDx"[submitter] AND "LOC126861324"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 2500395	NM_000829.4(GRIA4):c.389T>G (p.Phe130Cys)	GRIA4, LOC126861324 (F130C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253382	NM_000829.4(GRIA4):c.440A>T (p.Asp147Val)	LOC126861324, GRIA4 (D147V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375975	NM_000829.4(GRIA4):c.481G>A (p.Asp161Asn)	GRIA4, LOC126861324 (D161N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340893	NM_000829.4(GRIA4):c.484A>G (p.Arg162Gly)	GRIA4, LOC126861324 (R162G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar