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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
ADAM23, C2orf80
+131 more
Copy number loss
See cases
GPathogenic
ACADL, C2orf80
+96 more
Copy number loss
See cases
GPathogenic
C2orf80, CRYGA
+17 more
Copy number loss
See cases
GUncertain significance
CRYGA
(D172N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R169Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(D161N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(W157C)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CRYGA
(R153S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(G149R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R142Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R140Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R140L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(Y134C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(Y134F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(C130Y)
Single nucleotide variant
(missense variant)
CRYGA-related disorder
GLikely benign
CRYGA
(E128Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
Single nucleotide variant
(synonymous variant)
CRYGA-related disorder
GBenign
CRYGA
(A110T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(L105V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R99Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R99*)
Single nucleotide variant
(nonsense)
not provided
GBenign
CRYGA
(S86N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R80H)
Single nucleotide variant
(missense variant)
Developmental cataract
GLikely benign
CRYGA
(Q77R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CRYGA
(K62N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
Single nucleotide variant
(synonymous variant)
CRYGA-related disorder
GLikely benign
CRYGA
(R48H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(R48C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRYGA
(S40R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(P24S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRYGA
(N18I)
Single nucleotide variant
(missense variant)
CRYGA-related disorder
GBenign
CRYGA
(R15H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf80, CRYGA
+6 more
Copy number gain
not specified
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
ABI2, ACADL
+38 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
C2orf80, CRYGA
+5 more
Deletion
not provided
GPathogenic
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
C2orf80, CRYGA
+6 more
Copy number gain
not specified
GUncertain significance
ABI2, ADAM23
+58 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
ABI2, ACADL
+44 more
Deletion
Primary pulmonary hypertension
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ACADL, ADAM23
+36 more
Copy number loss
not provided
GPathogenic
C2orf80, CRYGA
+6 more
Copy number gain
not provided
GUncertain significance
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
C2orf80, CRYGA
+6 more
Copy number gain
not provided
GUncertain significance
C2orf80, CRYGA
+6 more
Copy number gain
not provided
GUncertain significance
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
AAMP, ABCA12
+60 more
Copy number gain
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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