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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
S1PR2
(R329C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 68
GUncertain significance
S1PR2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
S1PR2
(R108P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 68
GPathogenic
S1PR2
(Y140C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 68
GPathogenic
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