"GeneDx"[submitter] AND "RBM48"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256215	NM_000466.3(PEX1):c.-137T>C	LOC129998796, PEX1 +1 more	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 776237	NM_032120.4(RBM48):c.8C>T (p.Ser3Leu)	LOC129998797, PEX1 +1 more (S3L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1211594	NM_032120.4(RBM48):c.27G>A (p.Gly9=)	LOC129998797, PEX1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1229078	NM_032120.4(RBM48):c.111+102C>G	LOC129998797, RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258015	NM_032120.4(RBM48):c.448+179T>C	RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240849	NM_032120.4(RBM48):c.1017+34C>T	RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280029	NM_032120.4(RBM48):c.1018-125G>C	RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240967	NM_032120.4(RBM48):c.1047G>A (p.Glu349=)	RBM48	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

ClinVar