U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 219

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXLNA, UBXN11
+1145 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AKIRIN1, BMP8A
+268 more
Copy number loss
See cases
GPathogenic
BMP8A, BMP8B
+129 more
Copy number gain
See cases
GPathogenic
ZMPSTE24
Single nucleotide variant
not provided
Gnot provided
ZMPSTE24
Single nucleotide variant
not provided
Gnot provided
ZMPSTE24
Single nucleotide variant
not provided
Gnot provided
ZMPSTE24
Single nucleotide variant
not provided
Gnot provided
LOC129930252, ZMPSTE24
Single nucleotide variant
not provided
Gnot provided
ZMPSTE24, LOC129930252
Single nucleotide variant
not provided
GBenign
LOC129930252, ZMPSTE24
Single nucleotide variant
not provided
GBenign
LOC129930252, ZMPSTE24
Single nucleotide variant
not provided
Gnot provided
LOC129930252, ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
LOC129930252, ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
Mandibuloacral dysplasia
+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
LOC129930253, ZMPSTE24
Single nucleotide variant
(5 prime UTR variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
LOC129930253, ZMPSTE24
(M3T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LOC129930253, ZMPSTE24
(S6L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930253, ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129930253, ZMPSTE24
(L10fs)
Insertion
(frameshift variant)
not provided
GPathogenic
LOC129930253, ZMPSTE24
(L10F)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+2 more
GUncertain significance
LOC129930253, ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129930253, ZMPSTE24
(K17fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
LOC129930253, ZMPSTE24
(R18C)
Single nucleotide variant
(missense variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
LOC129930253, ZMPSTE24
(I19fs)
Duplication
(frameshift variant)
not provided
GPathogenic
LOC129930253, ZMPSTE24
(F20I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129930253, ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129930253, ZMPSTE24
(L32R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129930253, ZMPSTE24
(T35N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129930253, ZMPSTE24
(Q41*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
LOC129930253, ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Deletion
(intron variant)
not provided
GBenign
ZMPSTE24
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
ZMPSTE24
(Y45C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ZMPSTE24
(E54A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMPSTE24
(I58T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
(R68*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ZMPSTE24
(Y70fs)
Microsatellite
(frameshift variant)
not provided
Gnot provided
ZMPSTE24
(Y70fs)
Deletion
(frameshift variant)
not provided
Gnot provided
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZMPSTE24
(T87I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
(L94P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ZMPSTE24
(P99fs)
Deletion
(frameshift variant)
not provided
Gnot provided
ZMPSTE24
(R107W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZMPSTE24
(C109G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GBenign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
(I120V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZMPSTE24
(L132P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
(S134fs)
Deletion
(frameshift variant)
not provided
Gnot provided
ZMPSTE24
(Y144C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+2 more
GBenign/Likely benign
ZMPSTE24
(N156S)
Single nucleotide variant
(missense variant)
Mandibuloacral dysplasia with type B lipodystrophy
+1 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GBenign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GBenign
ZMPSTE24
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
ZMPSTE24
(D166E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
(L178*)
Single nucleotide variant
(nonsense)
Lethal tight skin contracture syndrome
GPathogenic
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZMPSTE24
(S182A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+1 more
GUncertain significance
ZMPSTE24
(G192R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
(Y195fs)
Deletion
(frameshift variant)
Lethal tight skin contracture syndrome
GPathogenic
ZMPSTE24
(I198fs)
Duplication
(frameshift variant)
Lethal tight skin contracture syndrome
GPathogenic
ZMPSTE24
(I198fs)
Deletion
(frameshift variant)
not provided
Gnot provided
ZMPSTE24
(F203L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(splice donor variant)
Lethal tight skin contracture syndrome
GPathogenic
ZMPSTE24
Insertion
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GBenign
ZMPSTE24
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
Gnot provided
ZMPSTE24
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ZMPSTE24
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
ZMPSTE24
(Y215C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ZMPSTE24
(Y218D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
(E231*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
GPathogenic
ZMPSTE24
(E237*)
Single nucleotide variant
(nonsense)
Mandibuloacral dysplasia with type B lipodystrophy
+2 more
GPathogenic/Likely pathogenic
ZMPSTE24
(I238V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMPSTE24
(E239K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZMPSTE24
(E239*)
Single nucleotide variant
(nonsense)
Lethal tight skin contracture syndrome
GPathogenic
ZMPSTE24
(K243R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZMPSTE24
(P248L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination