ClinVar for MedGen (Select 892446) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523244	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)	ACP6, BCL9 +6 more	Copy number gain	Optic atrophy +4 more	GPathogenic
Select item 523243	GRCh37/hg19 9q31.3(chr9:111624558-111812725)	ABITRAM, ACTL7A +4 more	Copy number gain	Profound global developmental delay +4 more	GUncertain significance
Select item 373964	NM_001271.4(CHD2):c.949A>G (p.Ile317Val)	CHD2 (I317V)	Single nucleotide variant (missense variant)	CNS hypomyelination +10 more	GLikely benign
Select item 373963	NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)	GLI2 (G85A)	Single nucleotide variant (missense variant +1 more)	CNS hypomyelination +10 more	GLikely benign
Select item 242901	NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)	GRM7 (T675K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more	GPathogenic/Likely pathogenic
Select item 242900	NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)	GRM7 (R658W)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic/Likely pathogenic
Select item 183357	NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	AP4M1 (R318* +1 more)	Single nucleotide variant (nonsense)	AP4M1-related condition +1 more	GPathogenic

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