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Links from MedGen

Items: 1 to 100 of 226

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ROR2
(Y786*)
Single nucleotide variant
(nonsense)
Autosomal recessive Robinow syndrome
GUncertain significance
ROR2
(H362Q)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GUncertain significance
ROR2
(K285R)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(F378S)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GUncertain significance
ROR2
(G214R)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(R619H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ROR2
(D672Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive Robinow syndrome
GPathogenic
ROR2
Single nucleotide variant
(synonymous variant)
Brachydactyly type B1
+2 more
GLikely benign
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ROR2
Single nucleotide variant
(intron variant)
Autosomal recessive Robinow syndrome
+2 more
GBenign
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ROR2
(H162R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ROR2
Single nucleotide variant
(intron variant)
Brachydactyly type B1
+2 more
GLikely benign
ROR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ROR2
Single nucleotide variant
(synonymous variant)
Autosomal recessive Robinow syndrome
+2 more
GLikely benign
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ROR2
(T501N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ROR2
(D928H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ROR2
(R112W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ROR2
(R153W)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+3 more
GUncertain significance
ROR2
(R94Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
(A600V)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+2 more
GUncertain significance
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ROR2
(R528*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ROR2
(D578N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
(I414V)
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive Robinow syndrome
+2 more
GUncertain significance
ROR2
(R518Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
(E467Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
(Y666C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ROR2
Single nucleotide variant
(synonymous variant)
Brachydactyly type B1
+2 more
GConflicting classifications of pathogenicity
ROR2
(V542M)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+2 more
GUncertain significance
ROR2
(P534H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ROR2
(R638Q)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+2 more
GUncertain significance
ROR2
(D591N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
(Q547K)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+2 more
GUncertain significance
ROR2
Single nucleotide variant
(intron variant)
Autosomal recessive Robinow syndrome
+3 more
GUncertain significance
ROR2
(Q841E)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+3 more
GUncertain significance
ROR2
(E563K)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+3 more
GUncertain significance
ROR2
(R121Q)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GUncertain significance
ROR2
(M452fs)
Deletion
(3 prime UTR variant +1 more)
Autosomal recessive Robinow syndrome
GPathogenic
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ROR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ROR2
(Y317C)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GLikely pathogenic
ROR2
(T544A)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+3 more
GUncertain significance
ROR2
(R785H)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+3 more
GUncertain significance
ROR2
(D625N)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+2 more
GUncertain significance
ROR2
(R178Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ROR2
(D672N)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+2 more
GUncertain significance
ROR2
(E257K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
(P101L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ROR2
Single nucleotide variant
(synonymous variant)
Brachydactyly type B1
+2 more
GConflicting classifications of pathogenicity
ROR2
(R736W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ROR2
(T331fs)
Deletion
(frameshift variant)
Autosomal recessive Robinow syndrome
GPathogenic
ROR2
(F739L)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(R736Q)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(P692T)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(R619S)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(I506F)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(R366W)
Single nucleotide variant
(missense variant)
Brachydactyly type B1
+1 more
GLikely pathogenic
ROR2
(C300F)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(C239*)
Single nucleotide variant
(nonsense)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(Q225fs)
Deletion
(frameshift variant)
Autosomal recessive Robinow syndrome
GPathogenic
ROR2
Single nucleotide variant
(intron variant)
Autosomal recessive Robinow syndrome
+1 more
GConflicting classifications of pathogenicity
ROR2
Copy number loss
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(C83Y)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(S29fs)
Microsatellite
(frameshift variant)
Autosomal recessive Robinow syndrome
GPathogenic
ROR2, SPTLC1
Copy number loss
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(R397*)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GPathogenic
ROR2
(N367I)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
Microsatellite
(splice donor variant)
Autosomal recessive Robinow syndrome
GLikely pathogenic
ROR2
(M1R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive Robinow syndrome
GPathogenic
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
(G52D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ROR2
(Y60S)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
(D254N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ROR2
(D296N)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+2 more
GUncertain significance
ROR2
(R428H)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ROR2
(S449R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
(A748S)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GConflicting classifications of pathogenicity
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(intron variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(synonymous variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
(Y624N)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ROR2
Single nucleotide variant
(synonymous variant)
Autosomal recessive Robinow syndrome
+2 more
GConflicting classifications of pathogenicity
ROR2
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly type B1
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
ROR2
(A241E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ROR2
(T330I)
Single nucleotide variant
(missense variant)
Autosomal recessive Robinow syndrome
+1 more
GUncertain significance
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