"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982618	NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys)	KCNC1 (W94C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1367356	NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)	KCNC1 (T399M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GPathogenic/Likely pathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic

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