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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNRPB
(A153T)
Single nucleotide variant
(missense variant)
Cerebro-costo-mandibular syndrome
GUncertain significance
LOC130065304, SNRPB
Single nucleotide variant
(5 prime UTR variant)
Cerebro-costo-mandibular syndrome
GPathogenic
SNRPB
Single nucleotide variant
(intron variant)
Cerebro-costo-mandibular syndrome
GPathogenic
SNRPB
Single nucleotide variant
(intron variant)
Cerebro-costo-mandibular syndrome
GPathogenic
SNRPB
Single nucleotide variant
(intron variant)
Cerebro-costo-mandibular syndrome
GPathogenic
SNRPB
Single nucleotide variant
(intron variant)
SNRPB-related condition
+1 more
GPathogenic
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