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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1B, LOC129388446
(S34L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF1B
(R72H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KIF1B
(S691R)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(V846A)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(P869Q)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(P1059Q)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(G1111S)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(R1135Q)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
GUncertain significance
KIF1B
(A679V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF1B
(E825K +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
KIF1B
(G1009C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF1B
(K1097R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+1 more
GUncertain significance
KIF1B
(I1395F +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+1 more
GUncertain significance
KIF1B
(L1488R +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
KIF1B
(R1680C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
KIF1B
(S1689G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A1
+3 more
GConflicting classifications of pathogenicity
KIF1B
(R1696H +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+2 more
GUncertain significance
KIF1B
(T1721S +1 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+1 more
GUncertain significance
SDHB
(S239F)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+5 more
GUncertain significance
SDHB
(L183F)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+4 more
GUncertain significance
SDHB
(K123T)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GUncertain significance
SDHB
(M103V)
Single nucleotide variant
(missense variant)
Paragangliomas 4
+5 more
GConflicting classifications of pathogenicity
LOC129929542, SDHB
Single nucleotide variant
(splice donor variant)
Hereditary pheochromocytoma-paraganglioma
+6 more
GPathogenic/Likely pathogenic
TMEM127
(S176G)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
TMEM127
(A98T)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GConflicting classifications of pathogenicity
LOC129934333, TMEM127
(I41V)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+5 more
GConflicting classifications of pathogenicity
LOC129934333, TMEM127
(A38S)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
LOC129934333, TMEM127
(P18S)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+3 more
GUncertain significance
RET
(R67H)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
RET
(V202M +1 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+10 more
GUncertain significance
RET
(A217D +2 more)
Single nucleotide variant
(missense variant)
RET-related disorder
+8 more
GUncertain significance
RET
(N448K +8 more)
Single nucleotide variant
(missense variant)
Pilocytic astrocytoma
+9 more
GConflicting classifications of pathogenicity
RET
(V467L +8 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+7 more
GUncertain significance
RET
(A498V +8 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+7 more
GUncertain significance
RET
(G279S +11 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia
+7 more
GConflicting classifications of pathogenicity
RET
(D567N +12 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+10 more
GConflicting classifications of pathogenicity
RET
(A641T +14 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
RET
(Y537N +16 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+8 more
GConflicting classifications of pathogenicity
RET
(P587L +16 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2B
+8 more
GConflicting classifications of pathogenicity
RET
(T1038A +17 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+10 more
GConflicting classifications of pathogenicity
RET
(T1085A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
SDHD
(A18V)
Single nucleotide variant
(missense variant +2 more)
Carney-Stratakis syndrome
+8 more
GConflicting classifications of pathogenicity
SDHD
(F34C)
Single nucleotide variant
(missense variant +2 more)
not provided
+7 more
GConflicting classifications of pathogenicity
SDHD
(A82P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+6 more
GUncertain significance
SDHD
(L85F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+9 more
GConflicting classifications of pathogenicity
SDHD
(V111I +1 more)
Single nucleotide variant
(synonymous variant +3 more)
Paragangliomas with sensorineural hearing loss
+7 more
GConflicting classifications of pathogenicity
MAX
(G136R +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MAX
(A133T +4 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+3 more
GConflicting classifications of pathogenicity
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