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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNRNPH2, RPL36A-HNRNPH2
(Y246C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GUncertain significance
HNRNPH2, RPL36A-HNRNPH2
(E154fs)
Deletion
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GLikely pathogenic
HNRNPH2, RPL36A-HNRNPH2
(Q205*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GLikely pathogenic
HNRNPH2, RPL36A-HNRNPH2
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GBenign
HNRNPH2, RPL36A-HNRNPH2
(R114W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
HNRNPH2, RPL36A-HNRNPH2
(D340V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
+1 more
GUncertain significance
HNRNPH2, RPL36A-HNRNPH2
(R212T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GLikely pathogenic
HNRNPH1, LOC128966623
(R62W +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GLikely pathogenic
HNRNPH2, RPL36A-HNRNPH2
(R29C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
GLikely pathogenic
HNRNPH2, RPL36A-HNRNPH2
(Y210C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked, syndromic, Bain type
+2 more
GConflicting classifications of pathogenicity
HNRNPH2, RPL36A-HNRNPH2
(R206Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic
HNRNPH2, RPL36A-HNRNPH2
(R206W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
HNRNPH2, RPL36A-HNRNPH2
(P209L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
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