U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 226

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB1, VAPB
+14 more
Duplication
Adult-onset proximal spinal muscular atrophy, autosomal dominant
+1 more
GUncertain significance
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
STX16, STX16-NPEPL1
(V254I +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(I261T +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(R183Q +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(R20Q +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(P36S)
Single nucleotide variant
(non-coding transcript variant +3 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(R133L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
STX16-related disorder
GLikely benign
STX16, STX16-NPEPL1
(N251H +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
STX16, STX16-NPEPL1
(S35fs)
Duplication
(non-coding transcript variant +3 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
(R255G +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
(Y66C +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
STX16, STX16-NPEPL1
(V119M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
STX16-related disorder
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
STX16, STX16-NPEPL1
(E124A +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
Duplication
(splice donor variant)
not provided
GUncertain significance
STX16
Deletion
not provided
GPathogenic
STX16, STX16-NPEPL1
(N15S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(Q120R +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(A118T +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(A33V +3 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(V109E +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(S130P +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
STX16, STX16-NPEPL1
(R321* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GBenign
STX16, STX16-NPEPL1
(R53C +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
STX16, STX16-NPEPL1
(V303I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
STX16, STX16-NPEPL1
(D52fs +3 more)
Deletion
(non-coding transcript variant +2 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
(A162T +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LAMA5, LIME1
+88 more
Copy number gain
not specified
GPathogenic
ANKRD60, APCDD1L
+25 more
Copy number loss
not specified
GPathogenic
SPO11, TUBB1
+36 more
Deletion
not provided
GUncertain significance
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Duplication
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16
Single nucleotide variant
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Duplication
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Insertion
(intron variant)
not provided
GBenign
STX16
Single nucleotide variant
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Deletion
(intron variant)
not provided
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
STX16, STX16-NPEPL1
(D168N +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
(A206V +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
STX16, STX16-NPEPL1
Deletion
(splice acceptor variant +1 more)
Pseudohypoparathyroidism type 1B
GPathogenic
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
(E131K +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16-NPEPL1, STX16
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +2 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +2 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
Format
Items per page
Sort by
Choose Destination