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Links from OMIM

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(V600E +15 more)
Single nucleotide variant
(missense variant)
Neoplasm
OOncogenic
KRAS
(R149*)
Single nucleotide variant
(nonsense)
Thyroid cancer, nonmedullary, 1
GLikely pathogenic
TP53
(K214fs +3 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
RINT1
(L33V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
Single nucleotide variant
(intron variant)
Thyroid cancer, nonmedullary, 1
GUncertain significance
RINT1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
LIG4
(Q558P +2 more)
Single nucleotide variant
(missense variant)
Papillary thyroid carcinoma
GLikely pathogenic
NKX2-1, SFTA3
(A339V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PALB2
(N716S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PCM1
(Q979* +3 more)
Single nucleotide variant
(nonsense +1 more)
Thyroid cancer, nonmedullary, 1
GUncertain significance
ATM, C11orf65
(R2854C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
OUncertain significance
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
STier I - Strong
OOncogenic
NRAS
(Q61R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
OOncogenic
HRAS, LRRC56
(Q61K)
Single nucleotide variant
(missense variant +1 more)
Epidermal nevus
+2 more
GPathogenic/Likely pathogenic
MINPP1
(S41L)
Single nucleotide variant
(missense variant)
Thyroid cancer, nonmedullary, 2
GPathogenic
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