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Links from MedGen

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRP72
(V573L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC129992625, SRP72
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
+1 more
GConflicting classifications of pathogenicity
SRP72
(R208H)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
SRP72
(R208C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SRP72
Single nucleotide variant
(intron variant)
Autosomal dominant aplasia and myelodysplasia
+1 more
GBenign
SRP72
Single nucleotide variant
(intron variant)
Autosomal dominant aplasia and myelodysplasia
+1 more
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
(Q485K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
(S327P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
(L192V)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129992625, SRP72
(S10L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
(H646Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
LOC129992625, SRP72
(S3G)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
LOC129992625, SRP72
(G7A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Deletion
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Microsatellite
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Microsatellite
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SRP72
Microsatellite
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Deletion
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Microsatellite
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
+1 more
GBenign
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
+1 more
GBenign
SRP72
Microsatellite
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GUncertain significance
SRP72
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GBenign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
SRP72
Duplication
(intron variant)
not specified
+2 more
GBenign/Likely benign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SRP72
Single nucleotide variant
(intron variant)
Autosomal dominant aplasia and myelodysplasia
GLikely benign
SRP72
(K325E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SRP72
Single nucleotide variant
(synonymous variant +2 more)
SRP72-related disorder
+3 more
GBenign
SRP72
(H229R)
Single nucleotide variant
(missense variant +2 more)
SRP72-related disorder
+2 more
GBenign
SRP72
(V136I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
SRP72
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
SRP72
(V45I)
Single nucleotide variant
(missense variant +1 more)
SRP72-related disorder
+3 more
GConflicting classifications of pathogenicity
SRP72
(R20W)
Single nucleotide variant
(missense variant +1 more)
SRP72-related disorder
+3 more
GBenign/Likely benign
SRP72
(A13S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant aplasia and myelodysplasia
+2 more
GConflicting classifications of pathogenicity
LOC129992625, SRP72
(G8E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC129992625, SRP72
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
LOC129992625, SRP72
(G7E)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant aplasia and myelodysplasia
+2 more
GConflicting classifications of pathogenicity
SRP72, LOC129992625
(G7W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
SRP72
(I530T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
SRP72
(R207H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SRP72
(T355fs +1 more)
Microsatellite
(frameshift variant +1 more)
Autosomal dominant aplasia and myelodysplasia
GPathogenic
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