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Items: 1 to 100 of 2978

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
MIR488, MR1
+456 more
Copy number loss
See cases
GPathogenic
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
C1orf21, C1orf21-DT
+46 more
Copy number loss
See cases
GUncertain significance
GS1-204I12.4, HMCN1
+44 more
Copy number loss
See cases
GPathogenic
HMCN1
Single nucleotide variant
(5 prime UTR variant)
Age related macular degeneration 1
GUncertain significance
HMCN1
Single nucleotide variant
(5 prime UTR variant)
Age related macular degeneration 1
GUncertain significance
HMCN1
Single nucleotide variant
(5 prime UTR variant)
Age related macular degeneration 1
GUncertain significance
HMCN1
Single nucleotide variant
(5 prime UTR variant)
Age related macular degeneration 1
GUncertain significance
HMCN1
Single nucleotide variant
(5 prime UTR variant)
Age related macular degeneration 1
GUncertain significance
HMCN1
Duplication
(5 prime UTR variant)
Macular degeneration
GUncertain significance
HMCN1
Duplication
(5 prime UTR variant)
Macular degeneration
GUncertain significance
HMCN1
Deletion
(5 prime UTR variant)
HMCN1-related disorder
GLikely benign
HMCN1
(S3Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(V6I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(H8L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(T9I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HMCN1
(Y17F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(L20P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(A21V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(P26S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(Q27E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(I30N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(E37K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
HMCN1
(A39T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Indel
(missense variant)
not provided
GUncertain significance
HMCN1
(F46I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(M52V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(L67S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(P85R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(P85L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMCN1
(I91V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(G92C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(G92D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(D99N)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
GUncertain significance
HMCN1
(K101R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(K102R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(Y105N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(Y105C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
(R108K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMCN1
(Q113R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
(I123T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HMCN1
(G124E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(K127R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(A129S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(G136V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HMCN1
(R146Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(D149V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(R151W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
HMCN1
(R151Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(H154Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(I160T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMCN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMCN1
(Q164*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
Age related macular degeneration 1
+1 more
GLikely benign
HMCN1
Deletion
(intron variant)
not provided
GBenign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
HMCN1-related disorder
GLikely benign
HMCN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMCN1
(V168I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(V168L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMCN1
(V170I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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