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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+295 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+280 more
Copy number loss
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADRA1B, ATP10B
+111 more
Duplication
not specified
GUncertain significance
GABRA1, GABRA6
+108 more
Copy number loss
See cases
GPathogenic
FABP6, FABP6-AS1
(T5M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1QTNF2, CCNJL
+6 more
Copy number gain
See cases
GLikely benign
FABP6
(E57K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(L70H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FABP6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FABP6
(S75R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(A32V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(T98N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(G105V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(M109I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(T123I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(G76R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(G89R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FABP6
(V172L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTTG1, UBLCP1
+29 more
Copy number loss
not provided
GLikely pathogenic
ATP10B, C1QTNF2
+11 more
Copy number gain
not provided
GUncertain significance
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ADAM19, ADRA1B
+33 more
Copy number loss
not provided
Gnot provided
CCNJL, SLU7
+6 more
Copy number gain
not provided
GUncertain significance
GABRA1, PTTG1
+17 more
Copy number loss
not provided
GPathogenic
ADAM19, ADRA1B
+51 more
Copy number loss
not provided
GPathogenic
C5orf52, ADAM19
+51 more
Copy number gain
not provided
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
C1QTNF2, CCNJL
+1 more
Copy number gain
See cases
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+50 more
Copy number loss
See cases
GPathogenic
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