ClinVar for MedGen (Select 82707) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369104	NM_001039958.2(MESP2):c.*431C>T	MESP2	Single nucleotide variant	Spondylocostal dysostosis +1 more	GBenign
Select item 329230	NM_203486.3(DLL3):c.-12dup	DLL3	Duplication (5 prime UTR variant)	Spondylocostal dysostosis +1 more	GUncertain significance
Select item 317398	NM_001039958.2(MESP2):c.132_134dup	MESP2	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 281200	NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])	MESP2	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 257238	NM_001039958.2(MESP2):c.-11G>A	MESP2	Single nucleotide variant (5 prime UTR variant)	Spondylocostal dysostosis +2 more	GLikely benign

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