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Links from MedGen

Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GORAB
(Q64*)
Single nucleotide variant
(nonsense +2 more)
Geroderma osteodysplastica
+1 more
GPathogenic
GORAB
(N114Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Geroderma osteodysplastica
GUncertain significance
GORAB, GORAB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
(P62R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
GORAB
(S335fs +1 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GORAB
(V270L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GORAB
(G96fs)
Deletion
(frameshift variant +2 more)
Geroderma osteodysplastica
GLikely pathogenic
GORAB
(R35*)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic
GORAB
(E114K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GORAB, GORAB-AS1
(S2I)
Single nucleotide variant
(missense variant)
Geroderma osteodysplastica
+2 more
GUncertain significance
GORAB, GORAB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GORAB
(R187W +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
+2 more
GUncertain significance
GORAB
(D130N)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
GORAB
(A65T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GORAB
(E135K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GORAB
Single nucleotide variant
(synonymous variant +2 more)
Geroderma osteodysplastica
GLikely benign
GORAB, GORAB-AS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
GORAB
(K136N)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
GORAB
(R262Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
(D216E +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
+1 more
GUncertain significance
GORAB, GORAB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GORAB, GORAB-AS1
(D21Y)
Single nucleotide variant
(missense variant +2 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
(R28C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GORAB, GORAB-AS1
Single nucleotide variant
(intron variant)
Geroderma osteodysplastica
GUncertain significance
GORAB, GORAB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
GORAB, GORAB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Geroderma osteodysplastica
+1 more
GConflicting classifications of pathogenicity
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
(C200F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GORAB, GORAB-AS1
(M1I)
Single nucleotide variant
(missense variant)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
(V199G +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB, GORAB-AS1
(A2fs)
Deletion
(frameshift variant +2 more)
Geroderma osteodysplastica
GLikely pathogenic
GORAB
(P78fs)
Duplication
(frameshift variant +2 more)
Geroderma osteodysplastica
GPathogenic/Likely pathogenic
GORAB
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
GORAB
(R65* +1 more)
Single nucleotide variant
(nonsense +2 more)
Geroderma osteodysplastica
GUncertain significance
GORAB, GORAB-AS1
Duplication
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GORAB, GORAB-AS1
Indel
Geroderma osteodysplastica
GPathogenic/Likely pathogenic
GORAB
(V163M +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
+1 more
GUncertain significance
GORAB
(Y242H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GORAB
(L106H +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
+1 more
GUncertain significance
GORAB
(V75I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
GORAB
(R248P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GBenign
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
GORAB
(A339V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GORAB
(R265H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
GORAB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GORAB
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
GORAB
(R234Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GORAB
(R212Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
+1 more
GUncertain significance
GORAB
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GORAB
(R179Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GORAB
Single nucleotide variant
(synonymous variant +2 more)
Geroderma osteodysplastica
+1 more
GConflicting classifications of pathogenicity
GORAB
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GORAB
(T117A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GORAB
(E88G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GORAB
(L63R +1 more)
Single nucleotide variant
(missense variant +2 more)
Geroderma osteodysplastica
GUncertain significance
GORAB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GORAB, GORAB-AS1
(F33L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GORAB
(L152* +1 more)
Single nucleotide variant
(nonsense +1 more)
Geroderma osteodysplastica
+1 more
GUncertain significance
GORAB
(R234W +2 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
+2 more
GUncertain significance
GORAB
(R28H)
Single nucleotide variant
(missense variant +2 more)
Geroderma osteodysplastica
+1 more
GUncertain significance
GORAB
(E320K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
GORAB
(K137fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GORAB
(A245P +1 more)
Single nucleotide variant
(missense variant +1 more)
Geroderma osteodysplastica
GPathogenic
GORAB
Deletion
Geroderma osteodysplastica
GPathogenic
GORAB
Single nucleotide variant
(3 prime UTR variant +1 more)
Geroderma osteodysplastica
GPathogenic
GORAB
(R107*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
GORAB
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
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