C5436813[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986402	NM_004713.6(NEMF):c.2871_2875dup (p.Asp959delinsValTer)	NEMF	Duplication (nonsense)	See cases	GPathogenic
Select item 986403	NM_004713.6(NEMF):c.2618del (p.Lys873fs)	NEMF (K852fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 986400	NM_004713.6(NEMF):c.2608C>T (p.Arg870Ter)	NEMF (R870* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 986401	NM_004713.6(NEMF):c.2014A>T (p.Lys672Ter)	NEMF (K672* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 992634	NM_004713.6(NEMF):c.1235_1236insC (p.Pro413fs)	NEMF (P413fs)	Insertion (frameshift variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 986405	NM_004713.6(NEMF):c.1234_1235insC (p.Asn412fs)	NEMF (N412fs)	Insertion (frameshift variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 931494	NM_004713.6(NEMF):c.807-2A>C	NEMF	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic

ClinVar