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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMPSTE24
Deletion
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
ZMPSTE24
(T87I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
(M472I)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia with type B lipodystrophy
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GLikely benign
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Mandibuloacral dysplasia with type B lipodystrophy
+1 more
GUncertain significance
ZMPSTE24
(N156S)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia with type B lipodystrophy
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Mandibuloacral dysplasia with type B lipodystrophy
+1 more
GUncertain significance
ZMPSTE24
(G426E)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia with type B lipodystrophy
+1 more
GUncertain significance
ZMPSTE24
(A420G)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+2 more
GUncertain significance
LOC129930253, ZMPSTE24
(R18C)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GLikely benign
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
(G343E)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
(E239K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
Mandibuloacral dysplasia with type B lipodystrophy
+2 more
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
Lethal tight skin contracture syndrome
+2 more
GBenign/Likely benign
ZMPSTE24
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+2 more
GBenign/Likely benign
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GLikely benign
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GBenign
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GBenign
ZMPSTE24
(R369Q)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+4 more
GConflicting classifications of pathogenicity
ZMPSTE24
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Microsatellite
(splice donor variant)
Lethal tight skin contracture syndrome
+4 more
GConflicting classifications of pathogenicity
ZMPSTE24
Single nucleotide variant
(intron variant)
Mandibuloacral dysplasia with type B lipodystrophy
+2 more
GConflicting classifications of pathogenicity
ZMPSTE24
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC129930253, ZMPSTE24
(L10F)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+2 more
GUncertain significance
LOC129930253, ZMPSTE24
Single nucleotide variant
(5 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ZMPSTE24
(E237*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
+2 more
GPathogenic/Likely pathogenic
ZMPSTE24
(E231*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GBenign
ZMPSTE24
Single nucleotide variant
(3 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GBenign
ZMPSTE24
(C109G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ZMPSTE24
(W450*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
ZMPSTE24
(P248L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC129930253, ZMPSTE24
(Q41*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
ZMPSTE24
(W340R)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
ZMPSTE24
(L362fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
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