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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983071	NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)	ARFGEF1, CSPP1 (R1022H +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 996313	NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter)	ARFGEF1 (R1774*)	Single nucleotide variant (nonsense)	Seizure +5 more	GPathogenic
Select item 1691847	NM_006421.5(ARFGEF1):c.5128+1G>A	ARFGEF1	Single nucleotide variant (splice donor variant)	Delayed ability to walk	GLikely pathogenic
Select item 1707530	NM_006421.5(ARFGEF1):c.3232G>T (p.Gly1078Ter)	ARFGEF1 (G1078*)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2500329	NM_006421.5(ARFGEF1):c.2851-1G>T	ARFGEF1	Single nucleotide variant (splice acceptor variant)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 1325861	NM_006421.5(ARFGEF1):c.1028-2A>T	ARFGEF1	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability +1 more	GLikely pathogenic
Select item 2664990	NM_006421.5(ARFGEF1):c.996_1005del (p.Val333fs)	ARFGEF1 (V133fs +1 more)	Deletion (frameshift variant +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic

ClinVar