U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(S239F)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+5 more
GUncertain significance
SDHB
(L183F)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+4 more
GUncertain significance
SDHB
(K151E)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHB
(K123T)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+3 more
GUncertain significance
LOC129929542, SDHB
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic/Likely pathogenic
TMEM127
(I188V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TMEM127
(S176G)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GUncertain significance
TMEM127
(A98T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
LOC129934333, TMEM127
(I41V)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
+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
LOC129934333, TMEM127
(G11C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
(A45T)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+7 more
GConflicting classifications of pathogenicity
SDHAF2
(R69C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SDHAF2
(E159A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SDHD
(A18V)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+8 more
GConflicting classifications of pathogenicity
SDHD
(F34C)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 1
+7 more
GConflicting classifications of pathogenicity
SDHD
(A82P +1 more)
Single nucleotide variant
(missense variant +2 more)
Pheochromocytoma
+6 more
GUncertain significance
SDHD
(L85F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+9 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
Format
Items per page
Sort by
Choose Destination