"OMIM"[submitter] AND "AMER1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10706	NC_000023.11:g.(57537466_63428182)_(65235775_65512709)del	AMER1, ARHGEF9 +36 more	Deletion	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 37045	NM_152424.4(AMER1):c.1267del (p.Leu423fs)	AMER1 (L423fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 10708	NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)	AMER1 (R358*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 10707	NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)	AMER1 (R353*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis +2 more	GPathogenic OLikely oncogenic
Select item 37046	NM_152424.4(AMER1):c.811C>T (p.Gln271Ter)	AMER1 (Q271*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 10705	NM_152424.4(AMER1):c.780dup (p.Pro261fs)	AMER1 (P261fs)	Duplication (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 10704	NM_152424.4(AMER1):c.671del (p.Pro224fs)	AMER1 (P224fs)	Deletion (frameshift variant)	Osteopathia striata with cranial sclerosis	GPathogenic
Select item 29979	NM_152424.4(AMER1):c.429T>A (p.Cys143Ter)	AMER1 (C143*)	Single nucleotide variant (nonsense)	Osteopathia striata with cranial sclerosis	GPathogenic

ClinVar