ClinVar Miner

List of variants in gene combination LOC130055850, MAX reported as uncertain significance for hereditary pheochromocytoma-paraganglioma

Included ClinVar conditions (38):

Autism; Pheochromocytoma; Global developmental delay; Hypospadias; Tall stature; Paraganglioma
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma; Pheochromocytoma
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Hereditary pheochromocytoma-paraganglioma
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Gastrointestinal stromal tumor; Paragangliomas 3
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma
Hereditary pheochromocytoma-paraganglioma
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Multiple endocrine neoplasia type 2A
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragangliomas 4; Pheochromocytoma
Paragangliomas 5
Pheochromocytoma
Pheochromocytoma; Familial medullary thyroid carcinoma
Pheochromocytoma; Paraganglioma
Pheochromocytoma; Paragangliomas 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002382.5(MAX):c.-80G>A	rs886050634	0.00022
NM_002382.5(MAX):c.25G>T (p.Val9Leu)	rs201743423	0.00007
NM_002382.5(MAX):c.14A>G (p.Asp5Gly)	rs150113270	0.00001
NM_002382.5(MAX):c.-110A>T	rs886050636
NM_002382.5(MAX):c.-126AGTG[6]	rs556734672
NM_002382.5(MAX):c.-99G>A	rs570017996
NM_002382.5(MAX):c.15_17del (p.Asp6del)	rs2063874960
NM_002382.5(MAX):c.21C>G (p.Ile7Met)	rs760248675
NM_002382.5(MAX):c.23A>C (p.Glu8Ala)
NM_002382.5(MAX):c.28G>C (p.Glu10Gln)
NM_002382.5(MAX):c.34G>A (p.Asp12Asn)	rs2063874476
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)	rs2063874476
NM_002382.5(MAX):c.36C>G (p.Asp12Glu)	rs370402660
NM_002382.5(MAX):c.36C>T (p.Asp12=)	rs370402660

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