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Items: 99

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
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
LOC130007275, LOC130007276
+97 more
Copy number loss
See cases
GPathogenic
GPR162
(A2V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(A6V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(R14S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(R14H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GPR162
(L25F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(D82G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(R120C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(A227E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(G231E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPR162
(S298L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(A31V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R51C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R335H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(D351H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(D358N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R79Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(K366R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R368C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R368H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(P377T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(P377Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(E416A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(T417A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(N418I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(F420S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(A160V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R163Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(E465K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(E181A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(E468K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(G191R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(A477T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(A193V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R218W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(E219A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(E220D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(S516P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(P241A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R527W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R252C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(R253Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(L538F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(L256P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
(A272T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
Duplication
(frameshift variant)
not provided
GBenign
GPR162
(G564A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR162
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR162
(A569G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACRBP, CD27
+23 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
ACRBP, CD4
+16 more
Copy number gain
not specified
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
A2ML1, ACRBP
+85 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
ATN1, C12orf57
+20 more
Copy number gain
not specified
GUncertain significance
ACRBP, ATN1
+40 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
ACRBP, ACSM4
+64 more
Duplication
not provided
GUncertain significance
COPS7A, DPPA3
+57 more
Duplication
Temtamy syndrome
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
ACRBP, ATN1
+43 more
Duplication
Temtamy syndrome
GUncertain significance
ACRBP, ATN1
+43 more
Duplication
Peroxisome biogenesis disorder 2B
GUncertain significance
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+107 more
Copy number gain
not provided
GPathogenic
CD4, CDCA3
+8 more
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
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+101 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+166 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
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