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Items: 65

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
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
IKZF2, LINC01953
+16 more
Copy number gain
See cases
GLikely benign
IKZF2
(S433T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IKZF2
(K433E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(L369V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(H391Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(H414P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(R388K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(I338T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(N362S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(H259R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IKZF2
(D318E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(N302S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
Single nucleotide variant
(intron variant)
not specified
GBenign
IKZF2
(I266V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF2
(P259S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IKZF2
(N228S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF2
(E222Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF2
(C218F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF2
(P214L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF2
Duplication
(intron variant)
not specified
GBenign
IKZF2
(Y195H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(N193K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(S182N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IKZF2
Single nucleotide variant
(intron variant)
not specified
GBenign
IKZF2
(G153R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(C145R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(R112C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(G110D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF2
(N93S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IKZF2
(S86N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(D74E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(H74L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
(S65T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2, LINC01953
+16 more
Copy number loss
See cases
GUncertain significance
IKZF2, LOC129935528
Single nucleotide variant
(intron variant)
not provided
GBenign
IKZF2
Single nucleotide variant
(intron variant)
not specified
GBenign
IKZF2
(I27T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF2
Single nucleotide variant
(synonymous variant)
not specified
GBenign
IKZF2
(I10T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ERBB4, IKZF2
+1 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
IKZF2, SPAG16
Copy number gain
not specified
GUncertain significance
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
ERBB4, IKZF2
+1 more
Deletion
Trichorhinophalangeal dysplasia type I
GUncertain significance
AAMP, ABCA12
+60 more
Copy number gain
not provided
GPathogenic
SPAG16, IKZF2
Copy number gain
not provided
GLikely benign
ERBB4, IKZF2
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+225 more
Copy number gain
See cases
GPathogenic
ERBB4, IKZF2
Copy number loss
See cases
GLikely pathogenic
ABCA12, BARD1
+5 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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