"Ambry Genetics"[submitter] AND "RBM38"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219158	NM_017495.6(RBM38):c.23G>A (p.Cys8Tyr)	RBM38, RBM38-AS1 (C8Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541061	NM_017495.6(RBM38):c.49C>T (p.Pro17Ser)	RBM38, RBM38-AS1 (P17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466095	NM_017495.6(RBM38):c.53T>C (p.Leu18Pro)	RBM38, RBM38-AS1 (L18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2205444	NM_017495.6(RBM38):c.388C>T (p.His130Tyr)	RBM38 (H130Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472305	NM_017495.6(RBM38):c.510T>G (p.Ile170Met)	RBM38 (I170M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461478	NM_017495.6(RBM38):c.668C>G (p.Thr223Ser)	RBM38 (T223S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar