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 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+142 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+147 more
Copy number loss
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+101 more
Copy number loss
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+170 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+114 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+123 more
Copy number loss
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+146 more
Copy number loss
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, AKAP3
+218 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+126 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
ADIPOR2, AKAP3
+223 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
ADIPOR2, CACNA1C
+49 more
Copy number gain
See cases
GUncertain significance
ADIPOR2, CACNA1C
+22 more
Copy number gain
See cases
GUncertain significance
DCP1B
(A612T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(T609S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(N598T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(P569L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DCP1B
(G544S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DCP1B
(V536I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(T534P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(R514H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(T486I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(G485A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(R470Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(Q460R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(L456F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(Q402H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(P393S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(A387V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(S385R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(R384H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DCP1B
(P371S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(Q360H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(Q353K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(R344C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(N339T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(N339I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(T329I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(R314Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(L304F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(A302T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(S301T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DCP1B
(M298I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(P247L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(R211H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DCP1B
(I190M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(C178G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(V159G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCP1B
(T142A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DCP1B
(Q140H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CACNA1C, DCP1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CACNA1C, DCP1B
(G71E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CACNA1C, DCP1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CACNA1C, DCP1B
(Y27C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CACNA1C, DCP1B
(A3P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
ADIPOR2, CACNA2D4
+7 more
Copy number loss
not provided
GLikely pathogenic
ADIPOR2, AKAP3
+40 more
Copy number loss
not provided
GPathogenic
ADIPOR2, B4GALNT3
+16 more
Copy number loss
not provided
GUncertain significance
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
ADIPOR2, CACNA1C
+8 more
Duplication
not provided
GUncertain significance
CACNA1C, CACNA2D4
+1 more
Duplication
Long QT syndrome
GUncertain significance
CACNA1C, CACNA2D4
+1 more
Duplication
Long QT syndrome
GUncertain significance
ADIPOR2, CACNA1C
+8 more
Copy number loss
not provided
GPathogenic
CACNA1C, DCP1B
Copy number loss
not provided
GUncertain significance
CACNA1C, CACNA2D4
+1 more
Copy number gain
not provided
GUncertain significance
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
CACNA1C, CACNA2D4
+1 more
Copy number gain
not specified
GUncertain significance
C3AR1, CACNA1C
+278 more
Copy number gain
not specified
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
A2ML1, ABCC9
+235 more
Copy number gain
not specified
GPathogenic
CACNA1C, CACNA2D4
+1 more
Duplication
not provided
GUncertain significance
CLEC4A, LRRC23
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
CRACR2A, ERC1
+93 more
Copy number gain
not provided
GPathogenic
ADIPOR2, B4GALNT3
+33 more
Copy number loss
not provided
GPathogenic
CACNA1C, CACNA2D4
+1 more
Copy number gain
not provided
GUncertain significance
DCP1B, CACNA1C
+1 more
Duplication
not provided
GUncertain significance
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
ADIPOR2, CACNA2D4
+5 more
Copy number gain
not provided
GUncertain significance
ADIPOR2, AKAP3
+44 more
Copy number loss
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+107 more
Copy number gain
not provided
GPathogenic
CACNA1C, DCP1B
Copy number gain
not provided
GUncertain significance
ACRBP, ACSM4
+102 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+193 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination