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Links from MedGen

Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INF2
(S1083G)
Single nucleotide variant
(missense variant)
Birth length less than 3rd percentile
+7 more
GUncertain significance
ABCC8
(R598Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypoglycemia
+11 more
GLikely pathogenic
DHCR7
(Y219H)
Single nucleotide variant
(missense variant)
Elevated circulating 7-dehydrocholesterol concentration
+3 more
GLikely pathogenic
SMARCAL1
(C241*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
+9 more
GPathogenic
DYNC1H1
(P2547L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+10 more
GConflicting classifications of pathogenicity
GALC
(G284S +2 more)
Single nucleotide variant
(missense variant)
not provided
+20 more
GPathogenic/Likely pathogenic
GALC
(A66T +1 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
+19 more
GLikely pathogenic
Translocation
Small for gestational age
GUncertain significance
Translocation
Failure to thrive
+2 more
GUncertain significance
CTNNA3, LOC132089819
Copy number loss
Premature ovarian failure
GBenign
Deletion
Large for gestational age
+3 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
Duplication
Small for gestational age
Gnot provided
PSG1, PSG11
+2 more
Deletion
Preeclampsia
+1 more
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Preeclampsia
+2 more
Gnot provided
DOK6
Deletion
(intron variant)
Large for gestational age
+3 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
CCDC178, LOC126862724
Duplication
Small for gestational age
Gnot provided
LOC129390953
Deletion
Small for gestational age
Gnot provided
RBFOX3
Duplication
Small for gestational age
Gnot provided
LOC112533660, LOC121852945
+7 more
Deletion
Small for gestational age
Gnot provided
ARL17B, KANSL1
+4 more
Duplication
Large for gestational age
+2 more
Gnot provided
TRIM72
Deletion
Small for gestational age
Gnot provided
LINC02890, LOC130058647
+2 more
Deletion
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
DPH6, LOC126862102
Deletion
Small for gestational age
Gnot provided
NIPA1
Deletion
Small for gestational age
Gnot provided
LOC130056269, LOC130056270
+1 more
Duplication
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
LOC125078019, LOC126862020
+3 more
Duplication
Small for gestational age
Gnot provided
LINC02316, LINC02328
Deletion
Small for gestational age
Gnot provided
LOC132090284
Deletion
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+2 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
DHRS4L1, DHRS4L2
+2 more
Deletion
Large for gestational age
+1 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
Deletion
Preeclampsia
+1 more
Gnot provided
LOC126861684
Duplication
Small for gestational age
Gnot provided
TMTC2
Deletion
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
LOC132090103
Duplication
Small for gestational age
Gnot provided
LOC129390426, LOC132090103
Duplication
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
GRIK4, LOC130006923
Deletion
Gestational diabetes mellitus uncontrolled
+1 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
CNTN5
Duplication
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
ANO9, LOC130005062
+8 more
Duplication
Small for gestational age
Gnot provided
B4GALNT4, IFITM1
+27 more
Duplication
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
NRG3
Deletion
Preeclampsia
+1 more
Gnot provided
PCDH15
Deletion
Small for gestational age
Gnot provided
LOC129390167, LOC129390168
+1 more
Duplication
Small for gestational age
Gnot provided
CCDC3, LOC107275223
Deletion
(intron variant)
Small for gestational age
Gnot provided
LOC124310574
Deletion
Large for gestational age
+3 more
Gnot provided
APBA1
Deletion
Small for gestational age
Gnot provided
LOC132089677
Duplication
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Preeclampsia
+2 more
Gnot provided
SLC26A7
Deletion
Small for gestational age
Gnot provided
LOC129390023, LRRC69
Deletion
Small for gestational age
Gnot provided
Deletion
Preeclampsia
+1 more
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+1 more
Gnot provided
MTUS1
Deletion
(splice acceptor variant +2 more)
Preeclampsia
+2 more
Gnot provided
Deletion
Large for gestational age
+3 more
Gnot provided
CNTNAP2
Duplication
Small for gestational age
Gnot provided
MGAM
Deletion
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
Duplication
Small for gestational age
+1 more
Gnot provided
Duplication
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
LOC129389678, LOC129389679
+1 more
Duplication
Small for gestational age
Gnot provided
NKAIN2
Duplication
Small for gestational age
Gnot provided
Duplication
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
HCG4B
Deletion
Small for gestational age
Gnot provided
SGCD
Deletion
(genic upstream transcript variant)
Large for gestational age
+1 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Small for gestational age
Gnot provided
LINC01950
Deletion
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
LINC02112, TAS2R1
Deletion
Gestational diabetes mellitus uncontrolled
+2 more
Gnot provided
Deletion
Small for gestational age
+1 more
Gnot provided
LOC129993568, ZDHHC11
Deletion
Small for gestational age
Gnot provided
LOC132089060, LOC132089061
+1 more
Duplication
Gestational diabetes mellitus uncontrolled
+3 more
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+1 more
Gnot provided
JADE1, LOC129993079
+3 more
Duplication
Small for gestational age
Gnot provided
ELOVL6, LOC116158506
+3 more
Duplication
Small for gestational age
Gnot provided
ANTXR2, LOC129389222
Deletion
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+2 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+1 more
Gnot provided
Deletion
Small for gestational age
Gnot provided
Duplication
Small for gestational age
Gnot provided
Deletion
Gestational diabetes mellitus uncontrolled
+4 more
Gnot provided
AADAC, AADACL2-AS1
Deletion
Premature ovarian failure
GBenign
LOC129937524
Duplication
Small for gestational age
Gnot provided
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