ClinVar for MedGen (Select 394313) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691762	NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)	RBM28 (V357fs +1 more)	Duplication (frameshift variant)	ANE syndrome	GLikely pathogenic
Select item 2435384	NM_018077.3(RBM28):c.2182A>T (p.Thr728Ser)	RBM28 (T587S +1 more)	Single nucleotide variant (missense variant)	ANE syndrome	GUncertain significance
Select item 1028085	NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln)	RBM28 (R582Q +1 more)	Single nucleotide variant (missense variant)	ANE syndrome +1 more	GUncertain significance
Select item 802364	NM_018077.3(RBM28):c.541+1del	RBM28	Deletion (intron variant +1 more)	ANE syndrome	GPathogenic
Select item 802363	NM_018077.3(RBM28):c.946G>T (p.Ala316Ser)	RBM28 (A175S +1 more)	Single nucleotide variant (missense variant)	ANE syndrome	GLikely pathogenic
Select item 732	NM_018077.3(RBM28):c.1052T>C (p.Leu351Pro)	RBM28 (L351P +1 more)	Single nucleotide variant (missense variant)	ANE syndrome	GPathogenic

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