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Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935841, LOC129935842
+1148 more
Copy number gain
See cases
GPathogenic
LOC129935871, LOC129935872
+986 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+630 more
Copy number gain
See cases
GPathogenic
LOC129935973, LOC129935974
+576 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
LOC129935973, LOC129935974
+455 more
Copy number loss
See cases
GPathogenic
LOC129935990, LOC129935991
+361 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+359 more
Copy number loss
See cases
GPathogenic
GBX2, GBX2-AS1
+180 more
Copy number loss
See cases
GPathogenic
LOC132090688, LOC132090689
+325 more
Copy number loss
See cases
GPathogenic
LOC126806577, LOC126806578
+334 more
Copy number loss
See cases
GPathogenic
HDAC4, HDAC4-AS1
+334 more
Copy number loss
See cases
GPathogenic
PRLH, PRR21
+325 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+318 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+314 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+311 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+309 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+303 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+288 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+298 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+144 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+288 more
Copy number loss
See cases
GPathogenic
LOC122889015, LOC122889016
+287 more
Copy number loss
See cases
GPathogenic
ACKR3, AGXT
+276 more
Copy number loss
See cases
GPathogenic
GPC1-AS1, GPR35
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+274 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+271 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+270 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+264 more
Copy number loss
See cases
GPathogenic
LOC129935970, LOC129935971
+251 more
Copy number loss
See cases
GPathogenic
COPS9, CROCC2
+250 more
Copy number loss
See cases
GPathogenic
ASB1, COPS9
+102 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+235 more
Copy number loss
See cases
GPathogenic
LINC01937, LINC01940
+10 more
Copy number loss
See cases
GUncertain significance
AGXT, ANKMY1
+171 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+185 more
Copy number loss
See cases
GPathogenic
TWIST2
(S10F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TWIST2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWIST2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TWIST2
(E23A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TWIST2
(R24K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TWIST2
(R28H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TWIST2
(G54S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TWIST2
(S57fs)
Deletion
(frameshift variant)
Focal facial dermal dysplasia type III
GPathogenic
TWIST2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWIST2
(Q65*)
Single nucleotide variant
(nonsense)
Focal facial dermal dysplasia type III
GPathogenic
TWIST2
(R68L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TWIST2
Duplication
(inframe_insertion)
Barber-Say syndrome
GPathogenic
TWIST2
(E75Q)
Single nucleotide variant
(missense variant)
Barber-Say syndrome
GPathogenic
TWIST2
(E75K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
TWIST2
(E75A)
Single nucleotide variant
(missense variant)
Barber-Say syndrome
GPathogenic
TWIST2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWIST2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWIST2
(Q119*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TWIST2
(Q119R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TWIST2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TWIST2
(D127G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TWIST2
(N128S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TWIST2
(H138Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TWIST2
(M150T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TWIST2
Single nucleotide variant
(3 prime UTR variant)
TWIST2-related disorder
GLikely benign
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+35 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+60 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+58 more
Copy number loss
not specified
GPathogenic
ACKR3, AGAP1
+58 more
Copy number loss
not specified
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
AQP12A, AGXT
+51 more
Copy number loss
not provided
GPathogenic
HDAC4, TWIST2
Copy number gain
not provided
GUncertain significance
CHRND, LRRFIP1
+123 more
Duplication
not provided
GPathogenic
ACKR3, AGAP1
+59 more
Deletion
Bethlem myopathy 1A
GPathogenic
ACKR3, AGAP1
+59 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+60 more
Copy number loss
not provided
GPathogenic
AQP12A, AGXT
+39 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+59 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ACKR3, AGAP1
+94 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGXT, ANKMY1
+53 more
Deletion
D-2-hydroxyglutaric aciduria 1
GPathogenic
AGXT, ANKMY1
+53 more
Duplication
Hereditary spastic paraplegia 30
+3 more
GUncertain significance
ACKR3, AGAP1
+59 more
Duplication
not provided
GUncertain significance
AGXT, ANKMY1
+36 more
Copy number loss
not provided
GPathogenic
PASK, RAB17
+53 more
Copy number loss
not provided
GPathogenic
D2HGDH, DTYMK
+57 more
Deletion
Intellectual disability
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
KCNJ13, NGEF
+97 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+48 more
Copy number gain
See cases
GUncertain significance
ACKR3, AGAP1
+37 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+63 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+119 more
Copy number gain
not provided
GPathogenic
ACKR3, AGXT
+56 more
Copy number gain
not provided
GPathogenic
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+44 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+49 more
Copy number loss
Chromosome 2q37 deletion syndrome
GLikely pathogenic
ACKR3, AGAP1
+57 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ABCB6, ACKR3
+183 more
Copy number gain
not provided
GPathogenic
ACKR3, AGAP1
+65 more
Copy number gain
not provided
GPathogenic
AQP12B, ASB1
+59 more
Copy number loss
not provided
GPathogenic
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