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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
SIAH3, SLAIN1
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1288 more
Copy number gain
See cases
GPathogenic
LINC00550, LINC00552
+1268 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+706 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+705 more
Copy number gain
See cases
GPathogenic
LOC130010067, LOC130010068
+344 more
Copy number gain
See cases
GPathogenic
LOC132090867, MBNL2
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+236 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+168 more
Copy number loss
See cases
GPathogenic
LOC130009970, LOC130009971
+638 more
Copy number gain
See cases
GPathogenic
ABCC4, CLDN10
+88 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+348 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+73 more
Copy number loss
See cases
GPathogenic
DZIP1
(S846A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(D844N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(W861G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(P819L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(P795T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(I755N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(P751S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(V745F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(N742K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(N740S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(R738H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DZIP1
(T697P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(T674A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(P650S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(M645I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(M645L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DZIP1
(A629T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(R626T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(D604E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(M622K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(K564T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(H582R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(S557I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(L555I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(V573I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(R563H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DZIP1
(S478L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(S465F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DZIP1
(R391Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(A380G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(Q365R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(R353C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DZIP1
(D352E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DZIP1
(S317L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(E306K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(M274R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(A265G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(Y230*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 47
GPathogenic
DZIP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DZIP1
(Q210R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(E192Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(A167V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DZIP1
(S140L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(A124V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(V77L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
(R63Q)
Single nucleotide variant
(missense variant)
Spermatogenic failure 47
GPathogenic
DZIP1
(F58L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DZIP1
Single nucleotide variant
(missense variant)
DZIP1-related disorder
GUncertain significance
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
ABCC4, ACOD1
+81 more
Copy number loss
not specified
GPathogenic
ABCC4, ACOD1
+102 more
Copy number loss
not specified
GPathogenic
SLC15A1, SOX21
+50 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+98 more
Copy number loss
not provided
GPathogenic
ABCC4, ACOD1
+78 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+121 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
DZIP1, ERCC5
+35 more
Copy number gain
See cases
GPathogenic
ABCC4, CLDN10
+7 more
Duplication
not provided
GUncertain significance
CLDN10, DNAJC3
+1 more
Copy number gain
not provided
GUncertain significance
ABCC4, BIVM
+40 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+116 more
Copy number gain
not provided
GPathogenic
CCDC169-SOHLH2, CCDC70
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+93 more
Copy number gain
See cases
GPathogenic
PCID2, PCOTH
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABCC4, CLDN10
+18 more
Copy number loss
not specified
GUncertain significance
EFNB2, ERCC5
+96 more
Copy number loss
not specified
GPathogenic
DCUN1D2, DNAJC3
+97 more
Copy number gain
not specified
GPathogenic
F10, F7
+101 more
Copy number loss
not specified
GPathogenic
ITGBL1, LAMP1
+104 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not specified
GPathogenic
ABCC4, DNAJC15
+332 more
Copy number gain
not specified
GPathogenic
ZMYM5, SPATA13
+329 more
Copy number gain
not specified
GPathogenic
DCT, TGDS
+7 more
Duplication
not provided
GUncertain significance
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