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Links from MedGen

Items: 1 to 100 of 274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(T73P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
Insertion
(inframe_insertion +1 more)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
(A6V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
(V228L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
(A11V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
(A56T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
(A5V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(V47M)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(S24G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(V191I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
(V93M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
+1 more
GUncertain significance
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
(P23S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NIPA1
(M76I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
(A11G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(L159P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
(P104L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(A10T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(V161M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(M1T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(V54M)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
(A11G +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(V191D +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1, NIPA2
Duplication
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Duplication
Hereditary spastic paraplegia 6
GBenign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
(R206W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(L23M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(V41M)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(K250Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(A7T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(A7V)
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Duplication
(intron variant +1 more)
Hereditary spastic paraplegia 6
GBenign
NIPA1, NIPA2
Deletion
Hereditary spastic paraplegia 6
GLikely benign
NIPA1, NIPA2
Duplication
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(M96L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(G52S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(T269I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(T17M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(A14T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
Deletion
(intron variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(Q139H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(V286M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(V243L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
NIPA1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 6
+1 more
GConflicting classifications of pathogenicity
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
NIPA1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 6
GLikely benign
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Deletion
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(V37M)
Single nucleotide variant
(intron variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
NIPA1
(L170V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GBenign
NIPA1
(Q169R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GPathogenic
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 6
+1 more
GConflicting classifications of pathogenicity
LOC130056709, NIPA1
(V36F)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC130056709, NIPA1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 6
GUncertain significance
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