"Invitae"[submitter] AND "NKRF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720644	NM_001417890.1(NKRF):c.2217T>C (p.Leu739=)	NKRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723250	NM_001417890.1(NKRF):c.1257C>T (p.Ser419=)	NKRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736733	NM_001417890.1(NKRF):c.459T>C (p.Pro153=)	NKRF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2776147	NM_001417890.1(NKRF):c.44dup (p.Pro16fs)	NKRF (P16fs)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	ATP1B4, AKAP14 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type	GPathogenic

ClinVar