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Links from OMIM

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P2RX2
(G223S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 41
Gnot provided
P2RX2
Deletion
(inframe_indel)
Autosomal dominant nonsyndromic hearing loss 41
GUncertain significance
P2RX2
(A254G +4 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 41
GUncertain significance
P2RX2
(Q140* +3 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant nonsyndromic hearing loss 41
GUncertain significance
P2RX2
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 41
+1 more
GBenign
P2RX2
(V260G +4 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 41
GUncertain significance
P2RX2
Duplication
(splice acceptor variant +1 more)
Autosomal dominant nonsyndromic hearing loss 41
GUncertain significance
P2RX2
(R268T +4 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 41
GUncertain significance
P2RX2
Microsatellite
(intron variant)
not provided
+1 more
GBenign
P2RX2
Single nucleotide variant
(splice donor variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
P2RX2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
P2RX2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nonsyndromic hearing loss 41
+2 more
GBenign
P2RX2
Deletion
(3 prime UTR variant +2 more)
not specified
+2 more
GBenign/Likely benign
P2RX2
(G353R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
P2RX2
(V60L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 41
GPathogenic
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