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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM98
(V5L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(R33W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(R40C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
Single nucleotide variant
(intron variant)
TMEM98-related disorder
GBenign
TMEM98
(Q56P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(P59T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
Deletion
(splice donor variant)
Nanophthalmos 4
GPathogenic
TMEM98
(W83R)
Single nucleotide variant
(missense variant)
not provided
GBenign
LOC121587587, TMEM98
Single nucleotide variant
(synonymous variant)
TMEM98-related disorder
GLikely benign
LOC121587587, TMEM98
(V131M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC121587587, TMEM98
(R134Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(V139M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(K144N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(M146L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
(L154F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
Single nucleotide variant
(synonymous variant)
TMEM98-related disorder
GLikely benign
TMEM98
(A157T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM98
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TMEM98
(A193P)
Single nucleotide variant
(missense variant)
Nanophthalmos 4
GPathogenic
TMEM98
(H196P)
Single nucleotide variant
(missense variant)
Nanophthalmos 4
GPathogenic
TMEM98
(A204T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AATF, ACACA
+66 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
ASIC2, C17orf75
+8 more
Copy number loss
not specified
GUncertain significance
LRRC37B, CDK5R1
+12 more
Copy number loss
Nanophthalmos 4
+2 more
GPathogenic
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
ABHD15, ADAP2
+80 more
Copy number gain
not provided
GLikely pathogenic
ASIC2, C17orf75
+18 more
Copy number loss
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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