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Links from Gene

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH2D6
(V235I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH2D6
(R232C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH2D6
(R251C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
(M118I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
(M305T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SH2D6
(R279Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SH2D6
(E216K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
(R284H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SH2D6
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SH2D6
(D217N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH2D6
(R295H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SH2D6
(E297K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
(R59H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
(G130S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SH2D6
(P261S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SH2D6
(R98Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ATOH8, C2orf68
+35 more
Copy number loss
not specified
GPathogenic
ELMOD3, GGCX
+27 more
Copy number loss
not provided
GPathogenic
SH2D6, TCF7L1
+4 more
Copy number gain
not provided
GUncertain significance
ATOH8, C2orf68
+41 more
Copy number loss
not provided
GPathogenic
ATOH8, AUP1
+78 more
Copy number loss
not provided
GPathogenic
MAT2A, TCF7L1
+22 more
Copy number gain
not provided
GUncertain significance
AAK1, ACTG2
+127 more
Duplication
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
SFTPB, SH2D6
+81 more
Copy number loss
See cases
GPathogenic
C2orf68, CAPG
+9 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ATOH8, C2orf68
+179 more
Copy number loss
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ATOH8, C2orf68
+302 more
Copy number gain
See cases
GPathogenic
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