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Items: 1 to 100 of 973

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(E18573fs +5 more)
Deletion
(frameshift variant)
TTN-related disorder
GLikely pathogenic
FOXF1
(Q62P)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
JAG1
(Q172*)
Single nucleotide variant
(nonsense)
JAG1-related disorder
GPathogenic
UBA2
(A296fs +1 more)
Duplication
(frameshift variant)
UBA2-related disorder
GLikely pathogenic
PNPLA8
(N439fs +1 more)
Insertion
(frameshift variant)
Mitochondrial myopathy-lactic acidosis-deafness syndrome
GLikely pathogenic
ABCD1
(V635M)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
+1 more
GConflicting classifications of pathogenicity
FLNA
(E27*)
Single nucleotide variant
(nonsense)
FLNA-related disorder
GLikely pathogenic
TBX4
(R250fs)
Deletion
(frameshift variant)
TBX4-related disorder
GLikely pathogenic
OTC
(S146*)
Single nucleotide variant
(nonsense)
Ornithine carbamoyltransferase deficiency
GPathogenic
OTX2
(S161fs +1 more)
Duplication
(frameshift variant +1 more)
OTX2-related disorder
GLikely pathogenic
NSD2
(E123*)
Single nucleotide variant
(nonsense)
NSD2-related disorder
GPathogenic
NKX2-1, SFTA3
(A311fs +1 more)
Duplication
(frameshift variant)
NKX2-1-related disorder
GPathogenic
KAT6B
(C1130fs +7 more)
Duplication
(frameshift variant)
KAT6B-related disorder
GPathogenic
NDUFB11
(R129* +1 more)
Single nucleotide variant
(nonsense)
Linear skin defects with multiple congenital anomalies 3
+1 more
GLikely pathogenic
CCDST, FLG
(Q2771*)
Single nucleotide variant
(nonsense)
FLG-related disorder
GLikely pathogenic
BRWD3
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, X-linked 93
GLikely pathogenic
MSH2
(K247* +8 more)
Single nucleotide variant
(nonsense +1 more)
MSH2-related disorder
GLikely pathogenic
SAMHD1
Single nucleotide variant
(splice donor variant)
SAMHD1-related disorder
GLikely pathogenic
PPP3CA
(T448fs)
Deletion
(frameshift variant +1 more)
PPP3CA-related disorder
GLikely pathogenic
ALPK3
(S1438*)
Single nucleotide variant
(nonsense)
ALPK3-related disorder
GPathogenic
DNMT3A
(C331S +3 more)
Single nucleotide variant
(missense variant +1 more)
DNMT3A-related disorder
GLikely pathogenic
ABCB4
(R469fs)
Deletion
(frameshift variant)
ABCB4-related disorder
GLikely pathogenic
CD46
Single nucleotide variant
(splice acceptor variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GLikely pathogenic
CLPP
(G162S)
Single nucleotide variant
(missense variant)
Perrault syndrome 3
GLikely pathogenic
RET
(W228* +3 more)
Single nucleotide variant
(nonsense +1 more)
RET-related disorder
GPathogenic
RALGAPA1
(F1880fs +4 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GLikely pathogenic
RALGAPA1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GLikely pathogenic
TBL1XR1
(D140G +1 more)
Single nucleotide variant
(missense variant)
TBL1XR1-related disorder
GLikely pathogenic
VWA1
(L390fs)
Deletion
(frameshift variant +1 more)
Neuronopathy, distal hereditary motor, autosomal recessive 7
GLikely pathogenic
FOXF1
(R86W)
Single nucleotide variant
(missense variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GLikely pathogenic
LOC126807619, NSD1
(G1501R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely pathogenic
LOC126806425, TTN
+1 more
(K14940fs +5 more)
Deletion
(frameshift variant)
TTN-related disorder
GPathogenic
EPHB4
(Y924*)
Single nucleotide variant
(nonsense)
EPHB4-related disorder
GLikely pathogenic
IRF2BPL
(Y431*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
GLikely pathogenic
RAC3
(K116N)
Single nucleotide variant
(missense variant)
RAC3-related disorder
GLikely pathogenic
KCNH1
(P533S +1 more)
Single nucleotide variant
(missense variant)
KCNH1-related disorder
GLikely pathogenic
KMT2A
(P2515fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
ATM
(E1325*)
Single nucleotide variant
(nonsense)
Breast cancer, susceptibility to
GLikely pathogenic
TRIP12
(Q1095fs +11 more)
Deletion
(frameshift variant)
Clark-Baraitser syndrome
GPathogenic
COL5A2
(Y1311*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic type, 2
GPathogenic
CFB
(F286L)
Single nucleotide variant
(missense variant)
CFB-related disorder
GPathogenic
GRHL2
Single nucleotide variant
(splice acceptor variant)
GRHL2-related disorder
GLikely pathogenic
SCN5A
(K1423T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LCT
Single nucleotide variant
(splice donor variant)
Congenital lactase deficiency
+1 more
GLikely pathogenic
CYP11A1
(R202W +1 more)
Single nucleotide variant
(missense variant)
Congenital Adrenal Insufficiency
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(C378Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
SOX17
(R70G)
Single nucleotide variant
(missense variant)
Sox17- related disorders
GLikely pathogenic
CHD4
(V961fs +2 more)
Microsatellite
(frameshift variant)
Sifrim-Hitz-Weiss syndrome
GLikely pathogenic
CREBBP
(I1611fs +1 more)
Deletion
(frameshift variant)
CREBBP-related disorder
GPathogenic
CHD2
(N890K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
EARS2
(Q117*)
Single nucleotide variant
(nonsense +1 more)
EARS2-related disorder
GLikely pathogenic
KMT2D
(E446fs)
Deletion
(frameshift variant)
Kabuki syndrome 1
GPathogenic
LRBA
(R645*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to LRBA deficiency
GPathogenic/Likely pathogenic
AHCY
(R36W +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely pathogenic
VPS13D
(R3493* +1 more)
Single nucleotide variant
(nonsense)
Spinocerebellar atrophy
GLikely pathogenic
NR0B1
Single nucleotide variant
(splice acceptor variant)
Congenital adrenal hypoplasia, X-linked
GPathogenic
FOXC2
(P309fs)
Duplication
(frameshift variant)
Distichiasis-lymphedema syndrome
GPathogenic
SETD5
(I200fs +1 more)
Duplication
(frameshift variant)
SETD5-related disorder
GPathogenic
MYRF
(R951* +1 more)
Single nucleotide variant
(nonsense)
MYRF-related disorder
GPathogenic
WT1
Single nucleotide variant
(splice donor variant +1 more)
WT1-related disorder
GPathogenic
ADK
(Q232* +4 more)
Single nucleotide variant
(nonsense +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ADK, LOC102723439
(S180fs +2 more)
Microsatellite
(frameshift variant +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ASXL1
(L714* +1 more)
Single nucleotide variant
(nonsense)
ASXL1-related disorder
GPathogenic
VCP
(G203R +1 more)
Single nucleotide variant
(missense variant)
VCP-related disorder
GLikely pathogenic
SCN2A
(V221D)
Single nucleotide variant
(missense variant +1 more)
SCN2A-related disorder
GLikely pathogenic
FOXF1
(S266*)
Single nucleotide variant
(nonsense)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
NPHP3, NPHP3-ACAD11
(H883fs)
Deletion
(non-coding transcript variant +1 more)
NPHP3-related disorder
GLikely pathogenic
KMT2D
(E958fs)
Duplication
(frameshift variant)
Kabuki syndrome 1
GPathogenic
COL11A1
Deletion
(splice donor variant)
COL11A1-related disorder
GPathogenic
MEF2C
(Q7*)
Single nucleotide variant
(nonsense)
MEF2C Haploinsufficiency Syndrome
GPathogenic
ANKRD11
(T539fs)
Microsatellite
(frameshift variant)
KBG syndrome
GPathogenic
COL4A1
(G805fs)
Duplication
(frameshift variant)
COL4A1-related disorder
GLikely pathogenic
KLHL7
(L146del +1 more)
Microsatellite
(inframe_deletion +1 more)
KLHL7-related disorder
GLikely pathogenic
KLHL7
(T143fs +1 more)
Duplication
(frameshift variant +1 more)
KLHL7-related disorder
GLikely pathogenic
FERMT3
(E354fs +3 more)
Microsatellite
(frameshift variant)
Leukocyte adhesion deficiency 3
GPathogenic
FLNA
(Y403*)
Single nucleotide variant
(nonsense)
FLNA-related disorder
GLikely pathogenic
PPP1R12A
(H864fs +2 more)
Deletion
(frameshift variant +1 more)
Genitourinary and/or brain malformation syndrome
GLikely pathogenic
USP9X
(E1367* +1 more)
Single nucleotide variant
(nonsense)
USP9X-related disorder
GLikely pathogenic
IGHMBP2
(S419fs)
Duplication
(frameshift variant)
Autosomal recessive distal spinal muscular atrophy 1
+1 more
GPathogenic/Likely pathogenic
COQ7, COQ7-DT
+1 more
(R16fs)
Duplication
(frameshift variant +1 more)
Primary coenzyme Q10 deficiency 8
GLikely pathogenic
KAT6B
(F1127fs +7 more)
Deletion
(frameshift variant)
KAT6B-related disorder
GPathogenic
GRIA2
(A592G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
GLikely pathogenic
MED12L
(R2061fs +1 more)
Microsatellite
(frameshift variant)
Nizon-Isidor syndrome
GLikely pathogenic
GLDC
(W897*)
Single nucleotide variant
(nonsense)
Non-ketotic hyperglycinemia
GLikely pathogenic
PTCH1
(D57fs)
Duplication
(frameshift variant +2 more)
PTCH1-related disorder
GLikely pathogenic
HIVEP2
(H975fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 43
GLikely pathogenic
NODAL
(Q85*)
Single nucleotide variant
(5 prime UTR variant +1 more)
NODAL-related disorder
GLikely pathogenic
ANKRD11
(E660fs)
Microsatellite
(frameshift variant)
KBG syndrome
GLikely pathogenic
KIF5A
(G890fs +1 more)
Deletion
(frameshift variant)
KIF5A-related disorder
GLikely pathogenic
SCN4A, GH-LCR
(L705P)
Single nucleotide variant
(missense variant)
SCN4A-related disorder
GLikely pathogenic
NIPBL
(G519*)
Single nucleotide variant
(nonsense)
Cornelia de Lange syndrome 1
GPathogenic
KCNB1
(I196S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 26
GLikely pathogenic
NSD2
(R548fs)
Deletion
(frameshift variant)
Rauch-Steindl syndrome
GPathogenic
PEX13
(R193fs)
Deletion
(frameshift variant)
PEX13-related disorder
+1 more
GPathogenic
DOCK8
(E385* +1 more)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to DOCK8 deficiency
GPathogenic
CDAN1
(G1098fs)
Duplication
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
SPOP
(L157fs)
Insertion
(frameshift variant)
Nabais Sa-de Vries syndrome
GLikely pathogenic
PDHA1
(E175K +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
TRAPPC12
(P19fs)
Deletion
(frameshift variant)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
GLikely pathogenic
TAOK1
Single nucleotide variant
(splice donor variant)
TAOK1-related disorder
GPathogenic
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