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Items: 1 to 100 of 436

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DVL1
(S575N +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CHD5
(R240L)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MTOR
(S1863L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTHFR
(P346R +2 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
CLCN6
(R479H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
VPS13D
(L66F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPEN
(R871C)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPEN
(M1911T)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KDM1A
(R726Q +2 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
SELENON
(R291Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SELENON
(G371D +1 more)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+3 more
GConflicting classifications of pathogenicity
TRIM63
(S161fs)
Microsatellite
(frameshift variant)
See cases
+2 more
GPathogenic
AHDC1
(R590W)
Single nucleotide variant
(missense variant)
See cases
GLikely benign
RRAGC
(W115R +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
MACF1
(R1196Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MACF1
(P5017L +1 more)
Single nucleotide variant
(missense variant)
See cases
+2 more
GConflicting classifications of pathogenicity
ACADM
(K329E +4 more)
Single nucleotide variant
(missense variant)
ACADM-related condition
+7 more
GPathogenic/Likely pathogenic
NRAS
(G138R)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
POGZ
(A1150S +5 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
GATAD2B
(R162W)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ASH1L
(R2841H +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MIR555, ASH1L
(P2625T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TBX19
(T203M)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
DARS2
(C152F)
Single nucleotide variant
(missense variant)
DARS2-related condition
+3 more
GPathogenic
CACNA1E
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1E
(R1134C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASPM
(R3064* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TNNT2
(R203Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
USH2A
(W3521R)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
USH2A
(N2651fs)
Duplication
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
GJC2
(M286T)
Single nucleotide variant
(missense variant)
See cases
GPathogenic
FH
(R233H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
HNRNPU
(E625* +1 more)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
MYT1L
(P868S +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KIDINS220
(L491W +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
DNMT3A
(D306N +3 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GLikely pathogenic
SOS1
(Q970R +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+2 more
GUncertain significance
SOS1
(R552S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic
MSH6
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
FBXO11
(P229S +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely benign
SPTBN1
(A217T +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPTBN1
(H1812R +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TET3
(R401C +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
RANBP2
(T585M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZEB2
(R921* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
ZEB2
(C310S +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
TBR1
(D66fs)
Deletion
(frameshift variant)
See cases
+1 more
GPathogenic
IFIH1
(R728*)
Single nucleotide variant
(nonsense)
Singleton-Merten syndrome 1
+3 more
GConflicting classifications of pathogenicity
SCN2A
(R538C)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+3 more
GUncertain significance
LOC102724058, SCN1A
(G1869E +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(splice donor variant)
See cases
GPathogenic
COL3A1
(A872P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(G1077S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
PGAP1
(L424P +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PGAP1
(P333L +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SATB2
(R389H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
FN1
(P1913L +3 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GLikely pathogenic
STK36
(L122P)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
STK36
(T152A)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PAX3
(G292fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
COL4A4
(R1377Q)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
TRIP12
(I1089fs +8 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
TRIP12
(D240V +4 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
LOC129936056, SUMF1
(Q56H)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SETD5
(G853R +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SETD5
(S1273fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GLikely pathogenic
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
THRB
(N4S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MLH1
(Q301* +3 more)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome
GPathogenic
PTH1R
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
SETD2
(S300N +1 more)
Single nucleotide variant
(missense variant +1 more)
Luscan-Lumish syndrome
+1 more
GUncertain significance
DHX30
Single nucleotide variant
(splice donor variant)
See cases
GLikely pathogenic
BAP1
(C91R)
Single nucleotide variant
(missense variant)
BAP1-associated neurodevelopmental disorder
+3 more
GConflicting classifications of pathogenicity
ARHGAP31
(A154V)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ADCY5
(R418Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
STAG1
(S700F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NLGN1
(K170fs)
Deletion
(frameshift variant +1 more)
See cases
GUncertain significance
PIK3CA
(R108H)
Single nucleotide variant
(missense variant)
Cowden syndrome
+4 more
GConflicting classifications of pathogenicity
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+8 more
GPathogenic
CC2D2A
Deletion
(splice acceptor variant)
Inborn genetic diseases
+6 more
GPathogenic
HNRNPDL
(A46P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDFY3
(R3473Q)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NAA15
(A155G)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MMAA
(R145*)
Single nucleotide variant
(nonsense)
MMAA-related condition
+4 more
GPathogenic/Likely pathogenic
FGA
(L636fs)
Duplication
(frameshift variant)
See cases
GLikely pathogenic
TRIO
(N2143S)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
TRIO
(R2663W)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
NIPBL
(Q1567*)
Single nucleotide variant
(nonsense)
See cases
GPathogenic
CPLANE1
(P2787S +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CPLANE1
Single nucleotide variant
(splice acceptor variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CPLANE1
(P968fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
CPLANE1
(L465fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
MAP3K1
(R186G)
Single nucleotide variant
(missense variant)
See cases
+1 more
GLikely pathogenic
MARVELD2
(R445C +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SLC12A2
(M218R)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
KDM3B
(R591Q)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KDM3B
(N1106S)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
KDM3B
(R1472Q)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KDM3B
(A1543T)
Single nucleotide variant
(missense variant)
See cases
+1 more
GLikely pathogenic
PDGFRB
(N505S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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