"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KCTD7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558953	NM_153033.5(KCTD7):c.-24C>T	KCTD7, LOC129998533	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 129370	NM_153033.5(KCTD7):c.267G>A (p.Thr89=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +3 more	GBenign
Select item 558954	NM_153033.5(KCTD7):c.315-24C>T	KCTD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 558955	NM_153033.5(KCTD7):c.405G>C (p.Gly135=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3	GLikely benign
Select item 1163278	NM_153033.5(KCTD7):c.457C>T (p.Arg153Cys)	KCTD7 (R153C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 3 +1 more	GUncertain significance
Select item 262690	NM_153033.5(KCTD7):c.493+18_493+21dup	KCTD7	Duplication (intron variant)	not specified +2 more	GBenign
Select item 558957	NM_153033.5(KCTD7):c.493+22T>A	KCTD7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129371	NM_153033.5(KCTD7):c.654C>T (p.Asp218=)	KCTD7	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 3 +3 more	GBenign

ClinVar