"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RBM8A"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95245	NM_005105.5(RBM8A):c.*6C>G	RBM8A	Single nucleotide variant (3 prime UTR variant)	RBM8A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 436518	NM_005105.5(RBM8A):c.318C>T (p.Leu106=)	LOC126805851, RBM8A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2639110	NM_005105.5(RBM8A):c.276A>G (p.Lys92=)	LOC126805851, RBM8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30464	NM_005105.5(RBM8A):c.-21G>A	LIX1L-AS1, LOC126805851 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	RBM8A-related condition +2 more	GConflicting classifications of pathogenicity; other
Select item 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic

ClinVar