| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(1505964) |
Deletion (D) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(8557265) |
Deletion (D) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(8809352) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000152: Testotoxicosis |
N |
Y |
(8809352) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000143: Pseudohypoparathyroidism |
N |
Y |
(9876352) |
Deletion (D) |
Y |
| D00000143: Pseudohypoparathyroidism |
N |
Y |
(9876352) |
Microinsertion (MI) |
Y |
| D00000143: Pseudohypoparathyroidism |
N |
Y |
(9876352) |
Microinsertion (MI) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(10094437) |
Deletion (D) |
Y |
| D00000231: Essential hypertension |
N |
Y |
(10406816) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(10487696) |
Deletion (D) |
Y |
| D00000260: Fibrous dysplasia |
N |
Y |
(10646121) |
Unknown (?) |
Y |
| D00000145: Pseudohypoparathyroidism type 1b |
N |
Y |
(11029463) |
Deletion (D) |
Y |
| D00000112: Platelike osteoma cutis |
N |
Y |
(11092389) |
Deletion (D) |
Y |
| D00000264: Progressive osseous heteroplasia |
N |
Y |
(11092390) |
Nonsense (No) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(11095461) |
Deletion (D) |
Y |
| D00000147: Acromegaly |
N |
Y |
(11158006) |
No mutation found (N) |
N |
| D00000261: Mazabraud syndrome |
N |
Y |
(11241472) |
No mutation found (N) |
N |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(11412411) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000131: Enhanced trauma-related bleeding tendency |
N |
Y |
(11583302) |
Insertion (I) |
Y |
| D00000131: Enhanced trauma-related bleeding tendency |
N |
Y |
(11583302) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(11600516) |
Microinsertion (MI) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(11600516) |
Insertion (I) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(11600516) |
Deletion (D) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(11600516) |
Splice site mutation (SpS) |
Y |
| D00000264: Progressive osseous heteroplasia |
N |
Y |
(11784876) |
Unknown (?) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(11788646) |
Microinsertion (MI) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(11788646) |
Unknown (?) |
Y |
| D00000146: Pseudohypoparathyroidism type 1c |
N |
Y |
(11788646) |
Microinsertion (MI) |
Y |
| D00000146: Pseudohypoparathyroidism type 1c |
N |
Y |
(11788646) |
Unknown (?) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(11926205) |
Microinsertion (MI) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(11926205) |
Deletion (D) |
Y |
| D00000144: Pseudohypoparathyroidism type 1a |
N |
Y |
(11926205) |
Insertion (I) |
Y |
| D00000294: McCune-Albright syndrome |
N |
Y |
(12199346) |
Microinsertion (MI) |
Y |
| D00000149: Cushing's syndrome (ACTH-independent) |
N |
Y |
(12373631) |
No mutation found (N) |
N |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12407707) |
Deletion (D) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12621129) |
Single nucleotide insertion (SNI) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12621129) |
Deletion (D) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12621129) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12621129) |
Single nucleotide deletion (SND) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12621129) |
Microinsertion (MI) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12621129) |
Nonsense (No) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(12656668) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000148: Cushing's syndrome |
N |
Y |
(12727968) |
Microinsertion (MI) |
Y |
| D00000295: McCune-Albright syndrome with precocious puberty |
N |
Y |
(12729407) |
Microinsertion (MI) |
Y |
| D00000083: Thyroid carcinoma in McCune-Albright syndrome |
N |
Y |
(12970318) |
Unknown (?) |
Y |
| D00000264: Progressive osseous heteroplasia |
N |
Y |
(14723729) |
Microinsertion (MI) |
Y |
| D00000294: McCune-Albright syndrome |
N |
Y |
(15126527) |
Microinsertion (MI) |
Y |
| D00000151: Premature thelarche |
N |
Y |
(15289771) |
Microinsertion (MI) |
Y |
| D00000214: Autonomic nervous system activity |
Y |
Y |
(15479166) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000153: Obesity |
N |
Y |
(15531240) |
Single nucleotide polymorphism (SNP) |
N |
| D00000062: Transitional cell carcinoma of the bladder |
N |
Y |
(15824158) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000232: Hypertension |
N |
Y |
(15894831) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000139: Diabetes mellitus |
N |
Y |
(15894831) |
Single nucleotide polymorphism (SNP) |
N |
| D00000153: Obesity |
N |
Y |
(15917856) |
Polymorphism (P) |
Y |
| D00000022: Colorectal cancer |
N |
Y |
(16033819) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000293: Albright hereditary osteodystrophy |
Y |
Y |
(16116826) |
Nonsense (No) |
Y |
| D00000143: Pseudohypoparathyroidism |
N |
Y |
(16116826) |
Nonsense (No) |
Y |
| D00000320: Athletic performance |
N |
Y |
(16210433) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000167: Schizophrenia (deficit) |
Y |
Y |
(16406317) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000058: Clear renal cell carcinoma |
N |
Y |
(16467086) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000088: B-cell chronic lymphocytic leukaemia |
N |
Y |
(17020971) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000150: Polycystic ovary syndrome |
N |
Y |
(17062894) |
Single nucleotide polymorphism (SNP) |
N |
| D00000107: Invasive breast carcinoma |
N |
Y |
(17186357) |
Single nucleotide polymorphism (SNP) |
Y |
