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Items: 1 to 100 of 1509869

  • The following term was not found in ClinVar: c.1021C.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR4F5
(I96S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(I235T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(S248P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4F5
(S323T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(Q186L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P10S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SAMD11
(I191T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(S21F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
(R26W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R207W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(V35A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(A36V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P38L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(A219V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R41W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(R47* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(S61R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(C65G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R67W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(R247W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(P77L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
(H257Y +1 more)
Single nucleotide variant
(missense variant)
SAMD11-related disorder
+1 more
GBenign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(R259C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SAMD11
(R259L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(I260T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
SAMD11-related disorder
+1 more
GBenign
SAMD11
(M261T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
(V86A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(V86D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
SAMD11-related disorder
+1 more
GBenign
SAMD11
(H266Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(H89Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(R97* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GBenign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(L107F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAMD11
(P108S +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
SAMD11
(T109S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(R116C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SAMD11
(R118L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(M301I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SAMD11
(H125Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SAMD11
(Q126* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SAMD11
(R307C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(C129R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(C308W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
(F131C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SAMD11
(R133* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SAMD11
(S135I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SAMD11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SAMD11
(P321L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SAMD11
Single nucleotide variant
(intron variant)
not provided
GBenign
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