ClinVar for MedGen (Select 120537) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436217	NM_003091.4(SNRPB):c.457G>A (p.Ala153Thr)	SNRPB (A153T)	Single nucleotide variant (missense variant)	Cerebro-costo-mandibular syndrome +1 more	GUncertain significance
Select item 183435	NM_003091.4(SNRPB):c.-72C>A	LOC130065304, SNRPB	Single nucleotide variant (5 prime UTR variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183434	NM_003091.4(SNRPB):c.155+406C>A	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183433	NM_003091.4(SNRPB):c.155+302G>T	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183432	NM_003091.4(SNRPB):c.155+302G>C	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome	GPathogenic
Select item 183431	NM_003091.4(SNRPB):c.155+301G>C	SNRPB	Single nucleotide variant (intron variant)	Cerebro-costo-mandibular syndrome +1 more	GPathogenic

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