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Links from Gene

Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MZT2B, TUBA3E
(C295S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(T225A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(N216S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(R214W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
MZT2B, TUBA3E
(A426E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
MZT2B, TUBA3E
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
AMER3, ARHGEF4
+16 more
Copy number loss
not provided
GUncertain significance
MZT2B, TUBA3E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MZT2B, TUBA3E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MZT2B, TUBA3E
(G416R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC115, CCDC74B
+19 more
Copy number loss
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
GPathogenic
MZT2B, TUBA3E
(Y224S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(H266N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(R123L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(N206S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(V260M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(V392D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MZT2B, TUBA3E
(V62M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(E448K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(T51M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TUBA3E, MZT2B
(L152M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(R214Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(D431G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(R229H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(T382M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(H28R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(R123P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(P263H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(R229C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(H406R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(P348L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(P72S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZT2B, TUBA3E
(P268R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
MZT2B, TUBA3E
Single nucleotide variant
(intron variant)
not provided
GBenign
MZT2B, TUBA3E
(A126V)
Single nucleotide variant
(missense variant)
not provided
GBenign
MZT2B, TUBA3E
(R156W)
Single nucleotide variant
(missense variant)
not provided
GBenign
AMER3, AMMECR1L
+44 more
Copy number loss
See cases
GLikely pathogenic
MZT2B, TUBA3E
(S101N)
Single nucleotide variant
(missense variant)
not provided
GBenign
MZT2B, TUBA3E
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MZT2B, TUBA3E
(R221S)
Single nucleotide variant
(missense variant)
not provided
GBenign
MZT2B, TUBA3E
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MZT2B, TUBA3E
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number loss
not provided
GUncertain significance
CCDC115, CCDC74B
+7 more
Copy number gain
not provided
GUncertain significance
IMP4, MZT2B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
AMER3, IMP4
+23 more
Copy number gain
not provided
GUncertain significance
CCDC115, IMP4
+4 more
Copy number loss
not provided
GUncertain significance
CCDC115, IMP4
+4 more
Copy number loss
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number loss
not provided
GUncertain significance
CCDC115, IMP4
+4 more
Copy number loss
not provided
GUncertain significance
TUBA3E, PTPN18
+13 more
Copy number loss
not provided
GLikely pathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
MZT2B, TUBA3E
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
AMER3, ARHGEF4
+23 more
Copy number gain
See cases
GUncertain significance
CCDC74B, MZT2B
+4 more
Copy number loss
See cases
GUncertain significance
CCDC115, CCDC74B
+11 more
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
CCDC115, IMP4
+4 more
Copy number loss
See cases
GUncertain significance
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
Congenital disorders of glycosylation type II
GPathogenic
PTPN18, TUBA3E
+6 more
Copy number gain
See cases
GBenign
CCDC115, IMP4
+4 more
Deletion
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
TUBA3E
Complex
Breast ductal adenocarcinoma
GUncertain significance
TUBA3E, MZT2B
(R215C)
Single nucleotide variant
(missense variant)
Lissencephaly
+3 more
GLikely pathogenic
CCDC115, CCDC74B
+22 more
Copy number loss
See cases
GUncertain significance
CCDC115, IMP4
+16 more
Copy number loss
See cases
GUncertain significance
AMMECR1L, BIN1
+125 more
Copy number gain
See cases
GUncertain significance
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
CCDC115, CCDC74B
+23 more
Copy number gain
See cases
GBenign
CCDC115, CCDC74B
+23 more
Copy number gain
See cases
GBenign
CCDC115, CCDC74B
+22 more
Copy number gain
See cases
GBenign
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
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