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Links from MedGen

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GARS1
(S281F +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
GUncertain significance
GARS1
(D126N +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
+1 more
GUncertain significance
GARS1
(M638V +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
GUncertain significance
GARS1
(I272T +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
GUncertain significance
GARS1
(G285R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GARS1
(I280M +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(3 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(intron variant)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(synonymous variant)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2D
+2 more
GUncertain significance
GARS1
(Q381H +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+3 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+2 more
GBenign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
GARS1
(T364M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2D
+3 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R265Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5A
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(R331C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+2 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5A
+1 more
GUncertain significance
GARS1
(L511Q +1 more)
Single nucleotide variant
(missense variant)
Distal spinal muscular atrophy
+5 more
GConflicting classifications of pathogenicity
GARS1
(H162R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GARS1
(G273R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
GARS1
(V152I +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
+3 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(T142A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital generalized lipodystrophy type 2
+1 more
GUncertain significance
GARS1
(D215H +1 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5A
GLikely pathogenic
BSCL2, HNRNPUL2-BSCL2
(G337E +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Charcot-Marie-Tooth disease type 2
+6 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(A369V +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5A
+5 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
GARS1
(E234K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GBenign/Likely benign
GARS1
(I334F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GARS1
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2D
+1 more
Gnot provided
GARS1
(V188I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
GARS1
(K85E +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
GARS1
(H472R +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GPathogenic
GARS1
(Q88E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GARS1
(V396I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+3 more
GUncertain significance
GARS1
Single nucleotide variant
(3 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GBenign
GARS1
Single nucleotide variant
(3 prime UTR variant)
Distal spinal muscular atrophy
+3 more
GBenign/Likely benign
GARS1
(E738K +1 more)
Single nucleotide variant
(missense variant)
Distal spinal muscular atrophy
+5 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+4 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+5 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(intron variant)
Distal spinal muscular atrophy
+5 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+6 more
GBenign
GARS1
(N493S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+7 more
GBenign/Likely benign
GARS1
(R388Q +1 more)
Single nucleotide variant
(missense variant)
Distal spinal muscular atrophy
+6 more
GBenign/Likely benign
GARS1
(N367S +1 more)
Single nucleotide variant
(missense variant)
GARS1-related condition
+6 more
GConflicting classifications of pathogenicity
GARS1
(H353Q +1 more)
Single nucleotide variant
(missense variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(intron variant)
Distal spinal muscular atrophy
+5 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(intron variant)
Distal spinal muscular atrophy
+4 more
GConflicting classifications of pathogenicity
GARS1
(D256H +1 more)
Single nucleotide variant
(missense variant)
Distal spinal muscular atrophy
+4 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
GARS1
(A255V +1 more)
Single nucleotide variant
(missense variant)
Distal spinal muscular atrophy
+6 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+8 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+4 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(synonymous variant)
Distal spinal muscular atrophy
+7 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GBenign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+3 more
GBenign/Likely benign
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+3 more
GBenign
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+3 more
GBenign/Likely benign
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+3 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital generalized lipodystrophy type 2
+1 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(5 prime UTR variant +1 more)
Neuronopathy, distal hereditary motor, type 5A
+1 more
GLikely benign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital generalized lipodystrophy type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital generalized lipodystrophy type 2
+2 more
GBenign/Likely benign
BSCL2, HNRNPUL2-BSCL2
(R42C)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuronopathy, distal hereditary motor, type 5A
+3 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
(G44D)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(G45S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary spastic paraplegia 17
+6 more
GBenign/Likely benign
BSCL2, HNRNPUL2-BSCL2
(L62F)
Single nucleotide variant
(non-coding transcript variant +2 more)
BSCL2-related condition
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(P118T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5A
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
(A249S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
(G211R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital generalized lipodystrophy type 2
+4 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
(A218V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
BSCL2-related condition
+6 more
GConflicting classifications of pathogenicity
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+5 more
GBenign/Likely benign
BSCL2, HNRNPUL2-BSCL2
(I288V +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital generalized lipodystrophy type 2
+1 more
GUncertain significance
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Congenital generalized lipodystrophy type 2
+2 more
GConflicting classifications of pathogenicity
HNRNPUL2-BSCL2, BSCL2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital generalized lipodystrophy type 2
+1 more
GUncertain significance
GARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+6 more
GBenign
GARS1
Single nucleotide variant
(intron variant)
Spinal muscular atrophy, infantile, James type
+4 more
GBenign
GARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+7 more
GBenign
GARS1
(P42A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+7 more
GBenign
GARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
HNRNPUL2-BSCL2, BSCL2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
BSCL2, HNRNPUL2-BSCL2
Single nucleotide variant
(intron variant)
Severe neurodegenerative syndrome with lipodystrophy
+7 more
GBenign
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