LOC126861324[gene] - ClinVar - NCBI

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Items: 12

	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 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 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 2341128	NM_000829.4(GRIA4):c.376G>T (p.Gly126Trp)	GRIA4, LOC126861324 (G126W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432278	NM_000829.4(GRIA4):c.385C>G (p.Gln129Glu)	GRIA4, LOC126861324 (Q129E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
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 3057495	NM_000829.4(GRIA4):c.411G>A (p.Ser137=)	GRIA4, LOC126861324	Single nucleotide variant (synonymous variant +1 more)	GRIA4-related disorder	GLikely benign
Select item 781814	NM_000829.4(GRIA4):c.436C>T (p.Leu146=)	GRIA4, LOC126861324	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3340893	NM_000829.4(GRIA4):c.484A>G (p.Arg162Gly)	GRIA4, LOC126861324 (R162G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance