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Links from MedGen

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC102B, TMX3
Duplication
Megacolon
GUncertain significance
BCAS3, USP32
+12 more
Deletion
Megacolon
GLikely pathogenic
C2CD4B
Duplication
Megacolon
GUncertain significance
CEP83
Deletion
Megacolon
GUncertain significance
TMEM132C
Duplication
Megacolon
GUncertain significance
OTOGL
Deletion
Megacolon
GUncertain significance
GEM, CDH17
Duplication
Megacolon
GUncertain significance
SLC25A13
Deletion
Megacolon
GUncertain significance
TNRC18, WIPI2
+1 more
Duplication
Megacolon
GUncertain significance
RBAK, MMD2
+1 more
Duplication
Megacolon
GUncertain significance
AP5Z1, FOXK1
+1 more
Duplication
Megacolon
GUncertain significance
SDK1
Deletion
Megacolon
GUncertain significance
GALNT11, KMT2C
Duplication
Megacolon
GUncertain significance
MORC1, MORC1-AS1
+2 more
Deletion
Megacolon
GUncertain significance
SLC6A6
Duplication
Megacolon
GLikely pathogenic
INO80D, NDUFS1
Deletion
Megacolon
GUncertain significance
MTX2
Duplication
Megacolon
GUncertain significance
ATP6V1C2, NOL10
Duplication
Megacolon
GUncertain significance
DGCR6, PRODH
+1 more
Duplication
Megacolon
GLikely pathogenic
PCNT
Deletion
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
Duplication
Megacolon
GUncertain significance
Duplication
Megacolon
GUncertain significance
L3MBTL4
Duplication
Megacolon
GUncertain significance
CTXND1
Duplication
Megacolon
GUncertain significance
KLRG1, A2M
Duplication
Megacolon
GUncertain significance
AHNAK
Duplication
Megacolon
GLikely pathogenic
TMEM273, WDFY4
+23 more
Deletion
Megacolon
GLikely pathogenic
LINGO2
Deletion
(intron variant)
Megacolon
GUncertain significance
CFTR
Deletion
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
CFTR
Deletion
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
CRISP2
Deletion
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
CASC15, LOC129995974
+1 more
Deletion
Megacolon
GUncertain significance
ETFDH
Deletion
Megacolon
GUncertain significance
LOC123493226, RXFP1
+3 more
Deletion
Megacolon
GUncertain significance
Duplication
Megacolon
GUncertain significance
CLDN18
Deletion
Megacolon
GUncertain significance
LOC107325936, FHIT
Deletion
(intron variant)
Megacolon
GLikely pathogenic
DNAH12
Deletion
Megacolon
GUncertain significance
DES
Deletion
(splice donor variant)
Megacolon
GUncertain significance
ATIC, FN1
+6 more
Deletion
Megacolon
GUncertain significance
COL3A1, LOC126806446
+1 more
Deletion
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
Duplication
Megacolon
GUncertain significance
SLC8A1, LOC120961747
Deletion
(intron variant)
Megacolon
GLikely pathogenic
AKT3
Deletion
Megacolon
GLikely pathogenic
SWT1, TRMT1L
Duplication
Megacolon
GUncertain significance
FLG, FLG-AS1
Duplication
Megacolon
GUncertain significance
RHCE
Duplication
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
CMC4, FUNDC2
+3 more
Deletion
Megacolon
GUncertain significance
Deletion
Megacolon
GUncertain significance
Duplication
Megacolon
GUncertain significance
HIC2
Duplication
Megacolon
GUncertain significance
AIFM3, ARVCF
+46 more
Deletion
Megacolon
GLikely pathogenic
RHCE
Duplication
Megacolon
GUncertain significance
DFFB, C1orf174
Duplication
Megacolon
GUncertain significance
RET
Deletion
(intron variant)
Megacolon
+1 more
GUncertain significance
EDN3
Microsatellite
(inframe_insertion)
not provided
+2 more
GUncertain significance
Translocation
Penile hypospadias
+6 more
GUncertain significance
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