Related gene-specific medical variations for Gene (Select 814) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361146	NM_001744.6(CAMK4):c.971G>A (p.Arg324His)	CAMK4 (R127H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360707	NM_001744.6(CAMK4):c.536C>T (p.Ala179Val)	CAMK4 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688711	NM_001744.6(CAMK4):c.303+2T>C	CAMK4	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2236612	NM_001744.6(CAMK4):c.121G>T (p.Ala41Ser)	CAMK4, LOC129994350 (A41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809187	GRCh37/hg19 5q22.1(chr5:110509287-110575583)x1	CAMK4	Copy number loss	not provided	GUncertain significance
Select item 1703562	GRCh37/hg19 5q22.1(chr5:110567597-110693274)	CAMK4	Copy number gain	Severe combined immunodeficiency disease	GUncertain significance
Select item 814723	GRCh37/hg19 5q22.1(chr5:110660886-110733173)x1	CAMK4	Copy number loss	not provided	GUncertain significance
Select item 685412	GRCh37/hg19 5q22.1(chr5:110660888-110753799)x1	CAMK4	Copy number loss	not provided	GUncertain significance

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