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Items: 1 to 100 of 2339

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2, MARCHF4
+1702 more
Copy number gain
See cases
GPathogenic
LOC129935810, LOC129935811
+1686 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1664 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1147 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+985 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+393 more
Copy number loss
See cases
GPathogenic
CCL20, CHRND
+347 more
Copy number loss
See cases
GPathogenic
LOC122889013, LOC122889014
+629 more
Copy number gain
See cases
GPathogenic
LOC126806558, LOC126806559
+309 more
Copy number gain
See cases
GPathogenic
LOC122889013, LOC122889014
+575 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+454 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+454 more
Copy number loss
See cases
GPathogenic
ALPG, ALPI
+38 more
Copy number loss
See cases
GPathogenic
DIS3L2, LOC129935854
Single nucleotide variant
Perlman syndrome
GUncertain significance
DIS3L2, LOC129935854
Single nucleotide variant
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Deletion
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(5 prime UTR variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(M1V)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
(M1L)
Single nucleotide variant
(missense variant +2 more)
DIS3L2-related disorder
+1 more
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(P4T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P4L)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P4R)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(D5G)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(Y6C)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(R7G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(R7T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(M8R)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(L10F)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(R11W)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(R11Q)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(P12T)
Indel
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P12T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P12S)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
+1 more
GBenign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(L13V)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(L13M)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(T15A)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(T15N)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(R17fs)
Deletion
(frameshift variant +1 more)
Perlman syndrome
GPathogenic/Likely pathogenic
DIS3L2
(P16A)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P16T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P16H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DIS3L2
(P16R)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(R17G)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(G18S)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GUncertain significance
DIS3L2
Deletion
(intron variant)
Perlman syndrome
GBenign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(G18fs)
Deletion
(frameshift variant +2 more)
Perlman syndrome
GLikely pathogenic
DIS3L2
(G18D)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(V19M)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(V19G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DIS3L2
(S20P)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(S20C)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(A21V)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(V22L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(A23S)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(A23T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(A23P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DIS3L2
(A23G)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(G24A)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(P25R)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(D27H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DIS3L2
(D27G)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(I28T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(I28M)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(G29C)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(G29fs)
Deletion
(frameshift variant +1 more)
Perlman syndrome
GPathogenic
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