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Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
LOC130062613, LOC130062614
+664 more
Copy number loss
See cases
GPathogenic
LOC130062683, LOC130062684
+664 more
Copy number loss
See cases
GPathogenic
ALPK2, ATP8B1
+340 more
Copy number loss
See cases
GPathogenic
LOC129391005, LOC129391006
+644 more
Copy number loss
See cases
GPathogenic
LOC130062551, LOC130062552
+636 more
Copy number loss
See cases
GPathogenic
LOC126862818, LOC126862819
+636 more
Copy number gain
See cases
GPathogenic
LOC130062592, LOC130062593
+602 more
Copy number loss
See cases
GPathogenic
LOC130062765, LOC130062766
+572 more
Copy number loss
See cases
GPathogenic
LOC108281158, LOC110120868
+573 more
Copy number loss
See cases
GPathogenic
CTDP1-DT, CYB5A
+450 more
Copy number loss
See cases
GPathogenic
LOC132090499, LOC132090500
+200 more
Copy number gain
See cases
GLikely pathogenic
SERPINB13, SERPINB2
+436 more
Copy number loss
See cases
GPathogenic
LOC126862831, LOC130062709
+430 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
LOC130062750, LOC130062751
+430 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+429 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+426 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+373 more
Copy number loss
See cases
GPathogenic
BCL2, HMSD
+56 more
Copy number gain
See cases
GUncertain significance
ADNP2, ATP9B
+348 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+347 more
Copy number loss
See cases
GPathogenic
KDSR
(R322T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(M319T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(C318R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(R317H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDSR
(T296S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 4
GLikely pathogenic
KDSR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KDSR
(P247A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KDSR
(Y186F)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 4
GPathogenic
KDSR
(G182S)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 4
GLikely pathogenic
KDSR
(Q174L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(V171A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDSR
(V150M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KDSR
(F138C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KDSR
(S136N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(D132E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(V126L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDSR
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 4
+1 more
GBenign
KDSR
Single nucleotide variant
(splice acceptor variant)
Erythrokeratodermia variabilis et progressiva 4
GPathogenic
KDSR
Single nucleotide variant
(intron variant)
not provided
GBenign
KDSR
(R64*)
Single nucleotide variant
(nonsense)
Erythrokeratodermia variabilis et progressiva 4
GLikely pathogenic
KDSR
(V62I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(G56V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KDSR
Deletion
(inframe_indel)
Erythrokeratodermia variabilis et progressiva 4
GPathogenic
KDSR
(V35G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDSR
(L22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDSR
(M18L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADNP2, ALPK2
+72 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+90 more
Copy number loss
not specified
GPathogenic
BCL2, CBLN2
+30 more
Copy number gain
not specified
GLikely pathogenic
ADNP2, ATP9B
+51 more
Copy number loss
not provided
GPathogenic
ADNP2, ALPK2
+80 more
Copy number loss
not provided
GPathogenic
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
FBXO15, SLC66A2
+57 more
Copy number loss
not specified
GPathogenic
PHLPP1, PIGN
+58 more
Copy number loss
not specified
GPathogenic
SERPINB3, ZCCHC2
+81 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+82 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+82 more
Copy number loss
not specified
GPathogenic
ADNP2, ALPK2
+82 more
Copy number loss
not specified
GPathogenic
ALPK2, ATP8B1
+52 more
Copy number loss
not specified
GPathogenic
MAPK4, MBD1
+101 more
Copy number loss
not specified
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
BCL2, HMSD
+17 more
Duplication
Multiple congenital anomalies-hypotonia-seizures syndrome 1
GUncertain significance
PHLPP1, PIGN
+17 more
Deletion
not provided
GPathogenic
MAPRE2, TSHZ1
+176 more
Copy number gain
not provided
GPathogenic
LMAN1, MALT1
+80 more
Copy number loss
not provided
GPathogenic
PARD6G, PHLPP1
+85 more
Copy number gain
Global developmental delay
GPathogenic
TXNL4A, CYB5A
+53 more
Copy number loss
not provided
GPathogenic
ZNF236, CYB5A
+66 more
Copy number loss
not provided
GPathogenic
PHLPP1, MC4R
+72 more
Copy number loss
not provided
GPathogenic
BOD1L2, SALL3
+90 more
Copy number loss
not provided
GPathogenic
ACAA2, ALPK2
+66 more
Copy number gain
not provided
GPathogenic
ADNP2, ATP9B
+59 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
ACAA2, ADNP2
+107 more
Copy number loss
not provided
GPathogenic
PMAIP1, GALR1
+72 more
Copy number loss
not provided
GPathogenic
DIPK1C, SLC66A2
+64 more
Copy number loss
not provided
GPathogenic
CDH7, DOK6
+55 more
Copy number loss
not provided
GPathogenic
ZNF236, TIMM21
+52 more
Copy number loss
not provided
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
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