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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAMD9
(L987S)
Single nucleotide variant
(missense variant)
SAMD9-related condition
+2 more
GUncertain significance
SAMD9
(N418D)
Single nucleotide variant
(missense variant)
MIRAGE syndrome
+1 more
GUncertain significance
SAMD9
(M1471I)
Single nucleotide variant
(missense variant)
Normophosphatemic familial tumoral calcinosis
+3 more
GConflicting classifications of pathogenicity
SAMD9
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SAMD9
(N10fs)
Deletion
(frameshift variant)
MIRAGE syndrome
+3 more
GUncertain significance
SAMD9
(I1135V)
Single nucleotide variant
(missense variant)
Monosomy 7 myelodysplasia and leukemia syndrome 2
+4 more
GUncertain significance
SAMD9
(G391*)
Single nucleotide variant
(nonsense)
Normophosphatemic familial tumoral calcinosis
GLikely pathogenic
SAMD9
(A454T)
Single nucleotide variant
(missense variant)
Normophosphatemic familial tumoral calcinosis
+1 more
GBenign/Likely benign
SAMD9
(R344*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SAMD9
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
SAMD9
(N1003S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GLikely benign
SAMD9
(I1578T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SAMD9
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
SAMD9
(I733T)
Single nucleotide variant
(missense variant)
Normophosphatemic familial tumoral calcinosis
+1 more
GUncertain significance
SAMD9
(R837fs)
Duplication
(frameshift variant)
Normophosphatemic familial tumoral calcinosis
GUncertain significance
SAMD9
(Q1169*)
Single nucleotide variant
(nonsense)
Normophosphatemic familial tumoral calcinosis
GUncertain significance
SAMD9
(V45fs)
Deletion
(frameshift variant)
Normophosphatemic familial tumoral calcinosis
GLikely pathogenic
SAMD9
(Q1445del)
Microsatellite
(inframe_deletion)
Normophosphatemic familial tumoral calcinosis
+1 more
GUncertain significance
SAMD9
(E600fs)
Deletion
(frameshift variant)
SAMD9-related condition
+3 more
GConflicting classifications of pathogenicity
SAMD9
(D1218*)
Duplication
(nonsense)
not provided
+4 more
GBenign/Likely benign
SAMD9
(E1520*)
Single nucleotide variant
(nonsense)
Normophosphatemic familial tumoral calcinosis
+2 more
GUncertain significance
SAMD9
(M1T)
Single nucleotide variant
(missense variant +1 more)
Normophosphatemic familial tumoral calcinosis
GLikely pathogenic
SAMD9
(Y1127*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
SAMD9
(Q154*)
Single nucleotide variant
(nonsense)
Normophosphatemic familial tumoral calcinosis
+1 more
GConflicting classifications of pathogenicity
SAMD9
(H32fs)
Deletion
(frameshift variant)
Normophosphatemic familial tumoral calcinosis
GUncertain significance
SAMD9
(K1495E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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