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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC125387319, LOC125387320
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+553 more
Copy number gain
See cases
GLikely pathogenic
ANKRD60, APCDD1L
+175 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
GNAS, GNAS-AS1
+16 more
Copy number gain
See cases
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GNAS, GNAS-AS1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely pathogenic
GNAS, GNAS-AS1
(D2N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(R3G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
+2 more
GUncertain significance
GNAS, GNAS-AS1
(R3W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS, GNAS-AS1
(R4G)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
+1 more
GUncertain significance
GNAS, GNAS-AS1
(H15R)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(L20fs)
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(I24M)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(R43C)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(F64fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(H88fs)
Duplication
(5 prime UTR variant +1 more)
Inborn genetic diseases
GPathogenic
GNAS-AS1, GNAS
(E90del)
Microsatellite
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign/Likely benign
GNAS, GNAS-AS1
(C100R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(T111I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
Gnot provided
GNAS, GNAS-AS1
(E112Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
Deletion
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(I119fs)
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(I119S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(S121F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
GNAS, GNAS-AS1
(E122K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
GNAS, GNAS-AS1
(T123A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
Deletion
(5 prime UTR variant +1 more)
GNAS-related condition
+1 more
GUncertain significance
GNAS, GNAS-AS1
(P133L)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(P137S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
GNAS, GNAS-AS1
(P137L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(E138K)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GNAS, GNAS-AS1
(L159fs)
Duplication
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(T160fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(D172N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1C
+7 more
GLikely benign
GNAS, GNAS-AS1
(P204L)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(E205K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
+3 more
GUncertain significance
GNAS, GNAS-AS1
(E206Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(K211E)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(E213del)
Microsatellite
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
GNAS, GNAS-AS1
(S230F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(P234L)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
(G238V)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS-AS1, GNAS
(P239T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
GNAS, GNAS-AS1
(I240M)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related condition
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
GNAS, GNAS-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNAS, GNAS-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
GNAS, GNAS-AS1
Copy number gain
See cases
GBenign
GNAS, GNAS-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
GNAS, GNAS-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
LAMA5, LIME1
+88 more
Copy number gain
not specified
GPathogenic
ANKRD60, APCDD1L
+25 more
Copy number loss
not specified
GPathogenic
ANKRD60, APCDD1L
+36 more
Deletion
not provided
GUncertain significance
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
BHLHE23, ZGPAT
+87 more
Copy number gain
not provided
GPathogenic
CDH4, CHRNA4
+68 more
Copy number gain
not provided
GPathogenic
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
not provided
GPathogenic
L3MBTL1, LAMA5
+540 more
Copy number gain
not provided
GPathogenic
KIF3B, KIZ
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
GNAS, GNAS-AS1
Deletion
Pseudohypoparathyroidism type 1B
GPathogenic
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