ClinVar for MedGen (Select 1678593) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236153	NM_001367534.1(CAMK2G):c.83T>C (p.Val28Ala)	CAMK2G (V28A)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 3234994	NM_001367534.1(CAMK2G):c.1256C>T (p.Pro419Leu)	CAMK2G (P157L +13 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 3068000	NM_001367534.1(CAMK2G):c.1236T>A (p.Asp412Glu)	CAMK2G (D135E +16 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 3064548	NM_001367534.1(CAMK2G):c.1757C>T (p.Pro586Leu)	CAMK2G (P324L +22 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 2442141	NM_001367534.1(CAMK2G):c.1534+149C>A	CAMK2G (C246* +12 more)	Single nucleotide variant (nonsense +2 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 1710167	NM_001367534.1(CAMK2G):c.676A>G (p.Ile226Val)	CAMK2G (I122V +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 1687297	NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs)	CAMK2G (A242fs +2 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 1687265	NM_001367534.1(CAMK2G):c.868T>C (p.Cys290Arg)	CAMK2G (C186R +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 59	GUncertain significance
Select item 1192578	NM_001367534.1(CAMK2G):c.147G>A (p.Lys49=)	CAMK2G	Single nucleotide variant (synonymous variant +2 more)	Intellectual developmental disorder 59 +1 more	GBenign
Select item 1192577	NM_001367534.1(CAMK2G):c.161-110A>G	CAMK2G	Single nucleotide variant (intron variant)	Intellectual developmental disorder 59 +1 more	GBenign
Select item 1192576	NM_001367534.1(CAMK2G):c.275+69A>G	CAMK2G	Single nucleotide variant (intron variant)	Intellectual developmental disorder 59 +1 more	GBenign
Select item 1192575	NM_001367534.1(CAMK2G):c.696+49del	CAMK2G	Deletion (intron variant)	Intellectual developmental disorder 59	GBenign
Select item 1192574	NM_001367534.1(CAMK2G):c.696+102_696+103insA	CAMK2G	Insertion (intron variant)	Intellectual developmental disorder 59	GBenign
Select item 39975	NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)	CAMK2G (R292P +5 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic