ClinVar for MedGen (Select 1677378) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441307	NM_015189.3(EXOC6B):c.925G>T (p.Glu309Ter)	EXOC6B (E196* +1 more)	Single nucleotide variant (nonsense +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GUncertain significance
Select item 1704251	NM_015189.1:c.2122+15447_2197-59588del	EXOC6B	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic
Select item 1335877	NM_015189.3(EXOC6B):c.401T>G (p.Leu134Ter)	EXOC6B (L134* +1 more)	Single nucleotide variant (nonsense +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic
Select item 625846	NG_050967.1:g.291668_510915del	EXOC6B	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic
Select item 625845	NM_015189.3(EXOC6B):c.906T>A (p.Tyr302Ter)	EXOC6B (Y302* +1 more)	Single nucleotide variant (nonsense +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic

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