"Invitae"[submitter] AND "PTK6"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 461213	NC_000020.11:g.(?_63444639)_(63528152_?)del	EEF1A2, KCNQ2 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 642634	NC_000020.11:g.(?_63472148)_(63528152_?)del	PTK6, PPDPF +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 788036	NM_005975.4(PTK6):c.373C>A (p.Arg125=)	PTK6 (A84E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2427484	NC_000020.10:g.(?_61978090)_(62324656_?)del	SRMS, STMN3 +9 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2424110	NC_000020.10:g.(?_61978090)_(62324656_?)dup	CHRNA4, EEF1A2 +9 more	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2424102	NC_000020.10:g.(?_62075992)_(62324656_?)del	EEF1A2, FNDC11 +8 more	Deletion	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic
Select item 1457920	NC_000020.10:g.(?_61987307)_(62329916_?)del	CHRNA4, EEF1A2 +10 more	Deletion	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 1073749	NC_000020.10:g.(?_62076002)_(62324646_?)del	EEF1A2, FNDC11 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	RTEL1, SAMD10 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 833250	NC_000020.10:g.(?_61977556)_(62562941_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 830535	NC_000020.10:g.(?_61977556)_(62562941_?)del	ARFRP1, CHRNA4 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic