ClinVar for MedGen (Select 1802083) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573025	NM_004766.3(COPB2):c.751+4A>G	COPB2	Single nucleotide variant (intron variant)	Osteoporosis, childhood- or juvenile-onset, with developmental delay	GUncertain significance
Select item 2431662	NM_004766.3(COPB2):c.1266dup (p.Ser423fs)	COPB2 (S423fs)	Duplication (frameshift variant +1 more)	Osteoporosis, childhood- or juvenile-onset, with developmental delay	GLikely pathogenic
Select item 1686976	NM_004766.3(COPB2):c.247dup (p.Val83fs)	COPB2 (V83fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1686975	NM_004766.3(COPB2):c.1206-2A>G	COPB2	Single nucleotide variant (splice acceptor variant)	Osteoporosis, childhood- or juvenile-onset, with developmental delay	GPathogenic
Select item 1327120	NM_004766.3(COPB2):c.1906dup (p.Thr636fs)	COPB2 (T636fs)	Duplication (frameshift variant +1 more)	COPB2-related disorder	GUncertain significance
Select item 1327119	NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs)	COPB2 (K413fs)	Deletion (frameshift variant +1 more)	COPB2-related disorder	GUncertain significance

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