U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 222

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSF, CFAP47
+2632 more
Duplication
Autism
+1 more
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number loss
See cases
GPathogenic
LOC130067918, LOC130067919
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068528, LOC130068529
+2634 more
Copy number gain
See cases
GPathogenic
ARMCX5, ARMCX5-GPRASP2
+2634 more
Copy number loss
See cases
GPathogenic
LOC130068369, LOC130068370
+1399 more
Copy number gain
See cases
GPathogenic
LOC130067939, LOC130067940
+1014 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1025 more
Copy number gain
See cases
GPathogenic
APOO, APOOL
+2634 more
Copy number gain
See cases
GPathogenic
LOC130068061, LOC130068062
+1023 more
Copy number loss
See cases
GPathogenic
LOC130068308, LOC130068309
+2634 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
LOC121627970, LOC121627971
+1042 more
Copy number loss
See cases
GPathogenic
LOC126863325, LOC126863326
+2633 more
Copy number gain
See cases
GPathogenic
VCX3A, VCX3B
+1070 more
Copy number loss
See cases
GPathogenic
LOC130067920, LOC130067921
+1476 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
LOC126863242, LOC126863243
+1629 more
Copy number loss
See cases
GPathogenic
LOC130068348, LOC130068349
+1164 more
Copy number loss
See cases
GPathogenic
ZNF41, ZNF630
+1009 more
Copy number loss
See cases
GPathogenic
LOC130068075, LOC130068076
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068153, LOC130068154
+1933 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
SYP, SYP-AS1
+1164 more
Copy number loss
See cases
GPathogenic
LOC130068278, LOC130068279
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068310, LOC130068311
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068203, LOC130068204
+1025 more
Copy number loss
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
GPathogenic
LOC107988022, LOC107988024
+2629 more
Copy number loss
See cases
GPathogenic
LOC130067944, LOC130067945
+2629 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number loss
See cases
GPathogenic
LOC130067929, LOC130067930
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068219, LOC130068220
+2633 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
CLCN4, CLCN5
+1155 more
Copy number loss
See cases
GPathogenic
LOC126863224, LOC126863225
+2632 more
Copy number gain
See cases
GPathogenic
LOC121627971, LOC121627972
+2633 more
Copy number loss
See cases
GPathogenic
FUNDC1, FUNDC2
+2633 more
Copy number loss
See cases
GPathogenic
LOC126863244, LOC126863245
+2633 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1131 more
Copy number loss
See cases
GPathogenic
MAGED2, MAGED4
+1799 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC130067990, LOC130067991
+1217 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1000 more
Copy number loss
See cases
GPathogenic
LOC130068098, LOC130068099
+2633 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC126863315, LOC126863316
+2633 more
Copy number gain
See cases
GPathogenic
PAGE4, PAGE5
+1164 more
Copy number loss
See cases
GPathogenic
LOC125467739, LOC125467740
+1494 more
Copy number loss
See cases
GPathogenic
LOC130068055, LOC130068056
+2612 more
Copy number loss
See cases
GPathogenic
CNKSR2, COL4A5
+2604 more
Copy number gain
See cases
GPathogenic
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
LOC130068152, LOC130068153
+2594 more
Copy number gain
See cases
GPathogenic
RBM10, RBM3
+1131 more
Copy number loss
See cases
GPathogenic
LOC130068468, LOC130068469
+2594 more
Copy number gain
See cases
GPathogenic
LOC130067984, LOC130067985
+2596 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2586 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+961 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+2047 more
Copy number loss
See cases
GPathogenic
LOC130068242, LOC130068243
+2103 more
Copy number loss
See cases
GPathogenic
LOC126863280, LOC126863281
+2099 more
Copy number loss
See cases
GPathogenic
AKAP4, ARAF
+309 more
Copy number gain
See cases
GPathogenic
AKAP4, ARAF
+328 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+213 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+204 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+200 more
Copy number gain
See cases
GPathogenic
AKAP4, ALAS2
+343 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+199 more
Copy number gain
See cases
GPathogenic
LOC130068245, LOC130068246
+198 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+196 more
Copy number loss
See cases
GPathogenic
AKAP4, BMP15
+196 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+157 more
Copy number gain
See cases
GPathogenic
IGBP1, IL2RG
+640 more
Copy number loss
See cases
GPathogenic
AKAP4, BMP15
+88 more
Copy number loss
See cases
GPathogenic
LOC130068457, LOC130068458
+824 more
Copy number loss
See cases
GPathogenic
BMP15, LOC121627972
+1 more
Duplication
not provided
GUncertain significance
BMP15
(M1fs)
Deletion
(frameshift variant +3 more)
Ovarian dysgenesis 2
GPathogenic
BMP15
Single nucleotide variant
(5 prime UTR variant)
Ovarian dysgenesis 2
+2 more
GBenign
BMP15
Deletion
Primary amenorrhea
GPathogenic
BMP15
(S5R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
BMP15
(L7V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMP15
(R8I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMP15
(G29R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
BMP15
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
BMP15
(Q56*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
BMP15
(R68W)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 2
+1 more
GConflicting classifications of pathogenicity
BMP15
(M70L)
Single nucleotide variant
(missense variant)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
BMP15
(R76C)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 2
GConflicting classifications of pathogenicity
BMP15
(R88C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMP15
(I90T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMP15
(N103S)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 2
+2 more
GBenign
BMP15
Single nucleotide variant
(intron variant)
not provided
GBenign
BMP15
(Y137N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMP15
(R138H)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 2
GPathogenic
BMP15
(L148P)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 2
+1 more
GBenign/Likely benign
BMP15
(W155fs)
Deletion
(frameshift variant)
Ovarian dysgenesis 2
GLikely pathogenic
BMP15
(P174S)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 2
GLikely benign
Format
Items per page
Sort by
Choose Destination