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Links from MedGen

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMPSTE24
(L178*)
Single nucleotide variant
(nonsense)
Lethal tight skin contracture syndrome
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
LMNA
(D334E +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 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
LMNA
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(3 prime UTR variant +1 more)
Emery-Dreifuss muscular dystrophy
+9 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
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+10 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
(E239K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
LMNA
(T154A +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Emery-Dreifuss muscular dystrophy
+9 more
GUncertain significance
ZMPSTE24
Deletion
(splice acceptor variant)
Lethal tight skin contracture syndrome
GPathogenic
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
LMNA
Single nucleotide variant
(synonymous variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+14 more
GConflicting classifications of pathogenicity
LMNA
(R231W +2 more)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+20 more
GConflicting classifications of pathogenicity
LMNA
(A318V +2 more)
Single nucleotide variant
(missense variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+14 more
GUncertain significance/Uncertain risk allele
LMNA
(R453Q +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+13 more
GConflicting classifications of pathogenicity
LMNA
(V442M +2 more)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+14 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 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
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
Microsatellite
(3 prime UTR variant)
Mandibuloacral dysplasia
+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)
not specified
+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)
ZMPSTE24-related disorder
+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
LOC129930253, ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
LOC129930253, ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
LOC129930252, ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
LOC129930252, ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
LMNA
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy due to LMNA mutation
+10 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Familial partial lipodystrophy, Dunnigan type
+16 more
GConflicting classifications of pathogenicity
LMNA
(R329S +2 more)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia
+12 more
GUncertain significance
LMNA
Single nucleotide variant
(intron variant)
Mandibuloacral dysplasia
+12 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
not provided
+12 more
GConflicting classifications of pathogenicity
LMNA
(R99S)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia with type A lipodystrophy
+12 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2B1
+12 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Maturity onset diabetes mellitus in young
+12 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Congenital muscular dystrophy due to LMNA mutation
+10 more
GLikely benign
LMNA
Single nucleotide variant
(5 prime UTR variant)
Congenital muscular dystrophy due to LMNA mutation
+10 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant)
Familial partial lipodystrophy
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1A
+10 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Hutchinson-Gilford syndrome
+9 more
GUncertain significance
LMNA
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2B1
+10 more
GUncertain significance
LMNA
(T496M +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+18 more
GConflicting classifications of pathogenicity
LMNA
(H506P +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+20 more
GUncertain significance
LMNA
(R329G +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
+11 more
GUncertain significance/Uncertain risk allele
LMNA
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+13 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1A
+14 more
GConflicting classifications of pathogenicity
LOC126805877, LMNA
(R133Q +2 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
+14 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1A
+17 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+14 more
GConflicting classifications of pathogenicity
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+24 more
GConflicting classifications of pathogenicity
LMNA
(R532H +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(splice donor variant)
Lethal tight skin contracture syndrome
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
LMNA
(V415I +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+14 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
+16 more
GConflicting classifications of pathogenicity
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