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Items: 1 to 100 of 512

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENC1, ERAP1
+690 more
Copy number gain
See cases
GPathogenic
ADGRV1, ARB2A
+435 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARB2A
+276 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARB2A
+274 more
Copy number loss
See cases
GPathogenic
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
ARB2A, ARRDC3-AS1
+146 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+688 more
Copy number loss
See cases
GPathogenic
EPB41L4A-AS1, EPB41L4A-DT
+495 more
Copy number loss
See cases
GPathogenic
APC, ARB2A
+342 more
Copy number loss
See cases
GPathogenic
ARB2A, ARSK
+119 more
Copy number gain
See cases
GUncertain significance
CAST, ELL2
+1 more
(K33R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCSK1, CAST
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
PCSK1, CAST
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Deletion
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GLikely benign
CAST, LOC101929710
+1 more
Duplication
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+2 more
GBenign/Likely benign
CAST, LOC101929710
+1 more
Deletion
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
PCSK1, CAST
+1 more
(N706H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
(V699M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
(V680I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCSK1, CAST
+1 more
(Y674C +1 more)
Single nucleotide variant
(missense variant +1 more)
PCSK1-related condition
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCSK1, CAST
+1 more
(L713F +1 more)
Single nucleotide variant
(missense variant)
Monogenic Non-Syndromic Obesity
+2 more
GUncertain significance
CAST, LOC101929710
+1 more
(P663R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
(K645N +1 more)
Single nucleotide variant
(missense variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
(S690T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CAST, LOC101929710
+1 more
(P638S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAST, LOC101929710
+1 more
(Q665E +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CAST, LOC101929710
+1 more
(G661V +1 more)
Single nucleotide variant
(missense variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
PCSK1, CAST
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAST, LOC101929710
+1 more
(V651I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
(S598R +1 more)
Single nucleotide variant
(missense variant +1 more)
PCSK1-related condition
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
Monogenic Non-Syndromic Obesity
+2 more
GConflicting classifications of pathogenicity
LOC101929710, PCSK1
+1 more
(T640A +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CAST, LOC101929710
+1 more
(Q556* +1 more)
Single nucleotide variant
(nonsense +1 more)
PCSK1-related condition
GUncertain significance
CAST, LOC101929710
+1 more
(S548A +1 more)
Single nucleotide variant
(missense variant +1 more)
PCSK1-related condition
GUncertain significance
CAST, LOC101929710
+1 more
(T594A +1 more)
Single nucleotide variant
(missense variant)
Obesity due to prohormone convertase I deficiency
GUncertain significance
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
(H592N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC101929710, PCSK1
+1 more
Single nucleotide variant
(synonymous variant)
PCSK1-related condition
+2 more
GConflicting classifications of pathogenicity
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant +1 more)
PCSK1-related condition
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CAST, LOC101929710
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAST, LOC101929710
+1 more
(I571N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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