"Counsyl"[submitter] AND "LOC130057891"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38907	NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	LOC130057891, MESP2 (G81*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557590	NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)	LOC130057891, MESP2 (A86fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557334	NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)	LOC130057891, MESP2 (Q84*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 555370	NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)	LOC130057891, MESP2 (E88fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 557032	NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)	LOC130057891, MESP2 (G116fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 2, autosomal recessive	GLikely pathogenic
Select item 551651	NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)	LOC130057891, MESP2 (Q117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar