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Items: 1 to 100 of 1633

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TARDBP
Deletion
(intron variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic Lateral Sclerosis, Dominant
+6 more
GBenign/Likely benign
TARDBP
(S377P)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GLikely pathogenic
TARDBP
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
TARDBP
Deletion
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
TARDBP
Deletion
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
TARDBP
Deletion
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
MASP2, TARDBP
Insertion
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
+2 more
GBenign
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
+3 more
GBenign/Likely benign
TARDBP
Deletion
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
TARDBP
Duplication
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+1 more
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
+2 more
GBenign
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+2 more
GLikely benign
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
ANKRD45, ASTN1
+239 more
Copy number loss
See cases
GPathogenic
FIRRM, METTL18
(V334I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FIRRM, METTL18
(G333C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(S314R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(L310R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(F309L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(T295S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(V285I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(G268S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(K262T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(R251S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(M221V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FIRRM, METTL18
(L157V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(M105V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(G92A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(T75I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(P56R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(L55V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(E43D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FIRRM, METTL18
(E37K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIRRM, METTL18
(L27Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
FIRRM, GORAB
+6 more
Deletion
not provided
GPathogenic
ATP8B2, AVPR1B
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
METTL13, METTL18
+60 more
Copy number loss
not provided
GPathogenic
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
ABL2, ACBD6
+70 more
Copy number gain
not provided
GPathogenic
ANKRD45, ATP1B1
+51 more
Deletion
1q24q25 microdeletion syndrome
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
DCTN1
(R409W +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SCN2A
(D12N)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
Gnot provided
SCN2A
(T1420M)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
Gnot provided
SCN2A
(T1623N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
ERBB4
(R1096H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARCHF4
(K211E)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GUncertain significance
MARCHF4
(W13C)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GLikely benign
GLT8D1
(K131fs)
Deletion
(frameshift variant)
Frontotemporal dementia
GLikely pathogenic
CHMP2B, LOC129937085
Single nucleotide variant
Frontotemporal dementia
GUncertain significance
CHMP2B
Duplication
(3 prime UTR variant)
Frontotemporal dementia
GUncertain significance
CHMP2B
Duplication
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia
GLikely benign
CHMP2B
Deletion
(3 prime UTR variant)
Frontotemporal dementia
GUncertain significance
CHMP2B
Deletion
(3 prime UTR variant)
Frontotemporal dementia
GUncertain significance
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+1 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
+2 more
GBenign/Likely benign
CHMP2B
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia
GUncertain significance
CHMP2B, POU1F1
Single nucleotide variant
(no sequence alteration)
Frontotemporal dementia
+2 more
GBenign
CHMP2B, POU1F1
Duplication
(3 prime UTR variant)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia
+3 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(intron variant)
Combined Pituitary Hormone Deficiency, Recessive
+4 more
GBenign/Likely benign
CHMP2B, POU1F1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MEF2C
Deletion
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
MEF2C
Deletion
(intron variant)
Frontotemporal dementia
GLikely pathogenic
CSF1R
(R752K +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
HCG26, HCG27
+2581 more
Copy number gain
See cases
GPathogenic
AARS2, ABCC10
+435 more
Copy number loss
See cases
GPathogenic
TREM2
(W198*)
Single nucleotide variant
(nonsense +1 more)
Frontotemporal dementia
GPathogenic
TREM2
(D39E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC123620117, LOC123620118
+324 more
Copy number loss
See cases
GPathogenic
LOC132089385, LOC132089386
+221 more
Copy number loss
See cases
GPathogenic
TTBK1
(D10H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK1
(E11K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK1
(D53E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK1
(V64A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK1
(I94V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TTBK1
(R123*)
Single nucleotide variant
(nonsense)
Mild global developmental delay
+5 more
GUncertain significance
TTBK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TTBK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTBK1
(A210V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTBK1
(R214W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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