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Links from Gene

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DST
(I2691fs +2 more)
Deletion
(frameshift variant +1 more)
Hereditary sensory and autonomic neuropathy type 6
GLikely pathogenic
DST
(Q1327* +6 more)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 6
GUncertain significance
DST, DST-AS1
(Y146C +2 more)
Single nucleotide variant
(missense variant)
DST-related disorder
GLikely benign
DST, DST-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DST, DST-AS1
Single nucleotide variant
(intron variant)
DST-related disorder
+1 more
GLikely benign
DST, LOC129389544
(L2469* +6 more)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GPathogenic
DST, DST-AS1
(S168F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DST, DST-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DST, DST-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DST
(S2644N)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 6
GUncertain significance
DST
(L2132P +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 6
GUncertain significance
DST
(V4538I +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
GUncertain significance
DST, LOC129996656
(W1526S +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
GUncertain significance
DST, LOC129996656
(F1523L +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(T1847A +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(G1866C +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(A1541T +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
(K4749E +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(T1998S +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129389544
(I2419V +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DST, LOC129389544
(G2086R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DST, DST-AS1
(A65V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DST, LOC129996656
(E1890D +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+2 more
GUncertain significance
DST, LOC129996656
(H1857R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DST, LOC129996656
(E1802* +6 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
DST, LOC129996656
(T1963I +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DST, DST-AS1
(M150V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DST, DST-AS1
(N5S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DST, DST-AS1
(R215W +1 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
GPathogenic
DST, LOC129389544
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GLikely benign
DST, LOC129996656
(Y4143S +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST
Deletion
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
(Q2494R +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129996656
(M1811T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129389544
(K2119E +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+2 more
GUncertain significance
DST, LOC129996656
(T1459A +6 more)
Single nucleotide variant
(missense variant)
DST-related disorder
+2 more
GUncertain significance
DST
Deletion
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
(A2132G +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
LOC129996656, DST
(E1511K +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST
(A1189fs)
Deletion
(intron variant +1 more)
not provided
GPathogenic
DST
(N2130*)
Duplication
(nonsense +1 more)
not provided
GPathogenic
DST, DST-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DST, DST-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DST, LOC129389544
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129389544
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GLikely benign
DST, LOC129389544
(K2122R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DST, LOC129389544
(M2113T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129996656
(H1833Y +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
(T2424I +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(A4162T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129996656
(P4098A +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129996656
(M1485V +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129996656
(Q1463E +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
(L2089F +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129389544
(V2143A +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129996656
(L1900F +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129389544
(Q2430R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DST, LOC129389544
(W2116* +6 more)
Single nucleotide variant
(nonsense)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GPathogenic
DST, LOC129389544
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GUncertain significance
DST, LOC129389544
(P2457A +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DST, LOC129389544
(K2596R +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(E4154K +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC129996656, DST
(G1540S +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(K1846E +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+2 more
GUncertain significance
DST, LOC129996656
(H1833D +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+2 more
GUncertain significance
LOC129389544, DST
(A2094V +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+2 more
GUncertain significance
DST, LOC129389544
(D4503N +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(G1866D +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+3 more
GUncertain significance
DST, LOC129389544
(H4703R +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST, LOC129996656
(E4167G +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DST, LOC129996656
(H1833Q +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DST, LOC129389544
(T2645I +6 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
+1 more
GUncertain significance
DST
(E3790V +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DST, LOC129389544
(S2427P +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+1 more
GBenign
DST, LOC129389544
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+2 more
GBenign/Likely benign
DST, LOC129996656
Single nucleotide variant
(synonymous variant)
DST-related disorder
+3 more
GBenign/Likely benign
DST, LOC129389544
(K2606R +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
+2 more
GBenign
DST
(S1375* +6 more)
Single nucleotide variant
(nonsense)
Esophageal atresia
+1 more
GUncertain significance
DST, DST-AS1
(A203E +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 6
GPathogenic/Likely pathogenic
DST
(C1325G +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DST
(R3516S +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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