"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CAMTA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773626	NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)	CAMTA1 (K299R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 377146	NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu)	CAMTA1 (S652L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 731059	NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 445323	NM_015215.4(CAMTA1):c.3066+20C>T	CAMTA1	Single nucleotide variant (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more	GBenign/Likely benign
Select item 714195	NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr)	CAMTA1 (N1188T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1299991	NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys)	CAMTA1, LOC126805603 (E1255K +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 432176	NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)	CAMTA1 (R1594* +8 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar