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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060335, LOC130060336
+242 more
Copy number gain
See cases
GPathogenic
ADORA2B, ARHGAP44
+228 more
Duplication
not specified
GPathogenic
ADORA2B, CCDC144A
+137 more
Copy number loss
See cases
GPathogenic
LOC284191, LRRC75A
+216 more
Copy number gain
See cases
GPathogenic
ADORA2B, AKAP10
+333 more
Copy number gain
See cases
GPathogenic
ADORA2B, AKAP10
+337 more
Copy number gain
See cases
GPathogenic
ADORA2B, ALKBH5
+240 more
Copy number gain
See cases
GPathogenic
LOC126862516, LOC126862517
+314 more
Copy number loss
See cases
GPathogenic
LOC130060335, LOC130060336
+217 more
Copy number loss
See cases
GPathogenic
ADORA2B, CCDC144A
+64 more
Copy number gain
See cases
GUncertain significance
FAM106C, FAM83G
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, ALKBH5
+199 more
Copy number loss
See cases
GPathogenic
ZSWIM7
(K136E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZSWIM7
(C82S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZSWIM7
(C78fs)
Deletion
(frameshift variant)
Ovarian dysgenesis 10
GLikely pathogenic
ZSWIM7
(T75I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZSWIM7
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 71
GPathogenic
ZSWIM7
(R64H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZSWIM7
(S59L)
Single nucleotide variant
(missense variant)
Infertility disorder
GLikely pathogenic
ZSWIM7
(Q52R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZSWIM7
(A45T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC19, ZSWIM7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TTC19, ZSWIM7
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130060309, TTC19
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130060309, TTC19
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130060309, TTC19
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC130060309, TTC19
+1 more
Single nucleotide variant
(intron variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19, ZSWIM7
Single nucleotide variant
(intron variant)
Mitochondrial complex III deficiency nuclear type 1
+1 more
GBenign/Likely benign
TTC19, ZSWIM7
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TTC19, ZSWIM7
(R25Q)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 1
+1 more
GUncertain significance
ZSWIM7
(A19V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTC19, ZSWIM7
(L13P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC130060310, TTC19
+1 more
Single nucleotide variant
(5 prime UTR variant)
Inborn genetic diseases
GUncertain significance
LOC130060310, TTC19
+1 more
Single nucleotide variant
(5 prime UTR variant)
Inborn genetic diseases
GUncertain significance
LOC130060310, TTC19
+1 more
Single nucleotide variant
(5 prime UTR variant)
Inborn genetic diseases
GLikely benign
LOC130060310, TTC19
+1 more
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19, ZSWIM7
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ZSWIM7, TTC19
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
TTC19, ZSWIM7
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
+1 more
GBenign/Likely benign
ADORA2B, AKAP10
+61 more
Copy number loss
not specified
GPathogenic
ADORA2B, CCDC144A
+11 more
Copy number gain
not specified
GUncertain significance
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
ADORA2B, AKAP10
+61 more
Copy number loss
not provided
GPathogenic
ADORA2B, CENPV
+10 more
Copy number gain
not provided
GUncertain significance
ADORA2B, CCDC144A
+10 more
Copy number gain
not provided
GUncertain significance
ADORA2B, CCDC144A
+10 more
Copy number gain
not provided
GUncertain significance
ADORA2B, NCOR1
+2 more
Copy number gain
not provided
GUncertain significance
ADORA2B, AKAP10
+78 more
Complex
PMP22-RAI1 contiguous gene duplication syndrome
GPathogenic
ADORA2B, ARHGAP44
+18 more
Copy number loss
Hereditary liability to pressure palsies
Gnot provided
CENPV, LRRC75A
+10 more
Copy number gain
not provided
GUncertain significance
UBB, TRPV2
+10 more
Copy number loss
not provided
GUncertain significance
ADORA2B, ALKBH5
+37 more
Copy number loss
not provided
GPathogenic
TTC19, NCOR1
+2 more
Copy number gain
not provided
GLikely benign
ZNF287, CENPV
+9 more
Copy number gain
not provided
GUncertain significance
ZSWIM7, ADORA2B
+10 more
Copy number gain
not provided
GUncertain significance
ADORA2B, ALKBH5
+42 more
Copy number loss
not provided
GPathogenic
ADORA2B, CCDC144A
+10 more
Copy number gain
not provided
GUncertain significance
ADORA2B, CENPV
+9 more
Copy number loss
not provided
GUncertain significance
ADORA2B, CCDC144A
+12 more
Copy number gain
not provided
GUncertain significance
ADORA2B, CENPV
+9 more
Copy number gain
not provided
GUncertain significance
ZSWIM7, ADORA2B
+2 more
Copy number gain
not provided
GUncertain significance
ADORA2B, CCDC144A
+10 more
Copy number gain
See cases
GLikely benign
EFTUD2, EIF1
+1143 more
Copy number gain
See cases
GPathogenic
KRT15, KRT16
+1143 more
Copy number gain
See cases
GPathogenic
ADORA2B, AKAP10
+59 more
Copy number loss
See cases
GPathogenic
ADORA2B, ZSWIM7
Copy number loss
See cases
GUncertain significance
ADORA2B, AKAP10
+59 more
Copy number gain
See cases
GPathogenic
ADORA2B, ADPRM
+41 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
ZSWIM7
(S58*)
Single nucleotide variant
Ovarian dysgenesis 10
GPathogenic
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