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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057143, LOC130057144
+287 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+140 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+163 more
Copy number loss
See cases
GPathogenic
ALDH1A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH1A2
(P476L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
(P514A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
(K486N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
Single nucleotide variant
(synonymous variant)
ALDH1A2-related condition
+1 more
GLikely benign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Microsatellite
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
(S423C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
(S365Y +2 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ALDH1A2
Microsatellite
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
(R316Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ALDH1A2
(A287T +2 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH1A2
(R251H +2 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
(T188A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH1A2
(L259V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(synonymous variant +1 more)
ALDH1A2-related condition
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
(Q161K +1 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
(I156T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ALDH1A2
(A130S +2 more)
Single nucleotide variant
(missense variant)
ALDH1A2-related condition
+1 more
GBenign/Likely benign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALDH1A2
Duplication
(5 prime UTR variant +1 more)
ALDH1A2-related condition
GBenign
ALDH1A2
(E47G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH1A2
(I14fs)
Duplication
(frameshift variant +1 more)
Diaphragmatic hernia 4, with cardiovascular defects
GUncertain significance
ALDH1A2
Deletion
(intron variant)
not provided
GBenign
ALDH1A2, ALDH1A2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
ALDH1A2-related condition
GLikely benign
ALDH1A2, ALDH1A2-AS1
(P31L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
ALDH1A2, ALDH1A2-AS1
(A17T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GLikely benign
ALDH1A2, ALDH1A2-AS1
(G10R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
ALDH1A2, ALDH1A2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
ALDH1A2-related condition
GBenign
WDR72, ZNF280D
+35 more
Copy number loss
not provided
GPathogenic
ADAM10, ALDH1A2
+82 more
Copy number gain
not provided
GPathogenic
ALDH1A2
Copy number loss
not specified
GUncertain significance
ALDH1A2, ALPK3
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ADAM10, ALDH1A2
+6 more
Copy number gain
not provided
GUncertain significance
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
ADAM10, ALDH1A2
+5 more
Copy number gain
not provided
GUncertain significance
AAGAB, ABHD17C
+523 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+561 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+561 more
Copy number gain
See cases
GPathogenic
ADAM10, ALDH1A2
+17 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+6 more
Copy number gain
See cases
GLikely pathogenic
ADAM10, ALDH1A2
+37 more
Copy number loss
See cases
GPathogenic
GPR176, GRAMD2A
+568 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+446 more
Copy number gain
See cases
GPathogenic
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