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Links from MedGen

Items: 1 to 100 of 322

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTN4R
(R377Q)
Single nucleotide variant
(missense variant)
Schizophrenia
GUncertain significance
SLC6A3
Deletion
(3 prime UTR variant)
Schizophrenia
GUncertain risk allele
SLC6A3
Single nucleotide variant
(intron variant)
Schizophrenia
GBenign
SLC6A3
Single nucleotide variant
Schizophrenia
GBenign
DRD5, SLC2A9
Single nucleotide variant
(synonymous variant)
Schizophrenia
+1 more
GUncertain significance
NRXN2
(S1449fs +9 more)
Deletion
(frameshift variant)
Schizophrenia
+1 more
Gnot provided
NDUFA10
Deletion
(genic downstream transcript variant)
Schizophrenia
GUncertain significance
ATRX
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
DMD
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
CRYBA4, CRYBB1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
KCNJ6, KCNJ6-AS1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
GSS
Insertion
(intron variant)
Schizophrenia
GUncertain significance
PIGN
Insertion
(intron variant)
Schizophrenia
GUncertain significance
WWOX
Insertion
(intron variant)
Schizophrenia
GUncertain significance
SCAPER
Insertion
(intron variant)
Schizophrenia
GUncertain significance
SCG3
Insertion
(intron variant)
Schizophrenia
GUncertain significance
NDUFA10
Deletion
(genic downstream transcript variant)
Schizophrenia
GUncertain significance
PAK1
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
PACS1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
FBP1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
ABCB4
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
MAGI2
Insertion
(intron variant)
Schizophrenia
GUncertain significance
SMOC2
Insertion
(intron variant)
Schizophrenia
GUncertain significance
ARID1B
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
LAMA2
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
ARSB
Insertion
(intron variant)
Schizophrenia
GUncertain significance
PRLR
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
ERBB4
Deletion
(intron variant)
Schizophrenia
GUncertain significance
LRBA
Insertion
(intron variant)
Schizophrenia
GUncertain significance
GRXCR1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
SLC2A9
Insertion
(intron variant)
Schizophrenia
GUncertain significance
RSRC1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
GLB1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
TTN
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
TET3
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
EXOC6B
Insertion
(intron variant)
Schizophrenia
GUncertain significance
GALM
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
NBAS
Insertion
(intron variant)
Schizophrenia
GUncertain significance
ERBB4
Deletion
(intron variant)
Schizophrenia
GUncertain significance
ATRX
Deletion
(intron variant)
Schizophrenia
GUncertain significance
IL1RAPL1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
DYM
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PIEZO2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
DNAH9
Deletion
(intron variant)
Schizophrenia
GUncertain significance
WWOX
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
SCNN1B
Deletion
(intron variant)
Schizophrenia
GUncertain significance
OTOA
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
SCAPER
Deletion
Schizophrenia
GUncertain significance
MYO1E
Deletion
(intron variant)
Schizophrenia
GUncertain significance
DYSF
Deletion
(intron variant)
Schizophrenia
GUncertain significance
RASGRP1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
GABRA5
Deletion
(intron variant)
Schizophrenia
GUncertain significance
GABRB3
Deletion
(intron variant)
Schizophrenia
GUncertain significance
WARS1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
GPHN
Deletion
(intron variant)
Schizophrenia
GUncertain significance
FREM2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
KIF5A
Deletion
(intron variant)
Schizophrenia
GUncertain significance
GYS2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
JAM3
Deletion
(intron variant)
Schizophrenia
GUncertain significance
OPCML
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PNPT1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
MMP20
Deletion
(intron variant)
Schizophrenia
GUncertain significance
KMT5B
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PTEN
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PCDH15
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PRKG1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PDSS1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
ZMYND11
Deletion
(intron variant)
Schizophrenia
GUncertain significance
KCNT1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
NFIB
Deletion
(intron variant)
Schizophrenia
GUncertain significance
KANK1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CRB1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CNTNAP2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CNTNAP2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CFTR, LOC111674472
Deletion
(intron variant)
Schizophrenia
GUncertain significance
BBS9
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CHN2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CHN2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
DNAAF5
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PRKN
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PRKN
Deletion
(intron variant)
Schizophrenia
GUncertain significance
ATXN1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
LMX1A
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PHACTR1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
FARS2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
SH3TC2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
CTNNA1
Deletion
(intron variant)
Schizophrenia
GUncertain significance
SPEF2
Deletion
(intron variant)
Schizophrenia
GUncertain significance
PRLR
Deletion
(intron variant)
Schizophrenia
GUncertain significance
SLC9A3
Deletion
(intron variant)
Schizophrenia
GUncertain significance
KIT
Deletion
(intron variant)
Schizophrenia
GUncertain significance
LOC129992362, RBPJ
Deletion
(intron variant)
Schizophrenia
GUncertain significance
GPD1L
Deletion
(intron variant)
Schizophrenia
GUncertain significance
DHCR24
Deletion
(intron variant)
Schizophrenia
GUncertain significance
SYN2
(Q529*)
Single nucleotide variant
(nonsense)
Schizophrenia
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
+1 more
GBenign/Likely benign
MTHFR
(R109Q +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+3 more
GUncertain significance
MTHFR
(I225V +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+3 more
GConflicting classifications of pathogenicity
ATG7, HRH1
+6 more
Copy number loss
Schizophrenia
Gnot provided
IRAK1BP1, PHIP
Microsatellite
(nonsense)
Schizophrenia
GPathogenic
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