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Links from Gene

Items: 1 to 100 of 181

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCR1, NLRP7
(G712fs +1 more)
Deletion
(frameshift variant)
Hydatidiform mole, recurrent, 1
GLikely pathogenic
NCR1, NLRP7
(A698V +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GLikely pathogenic
NCR1, NLRP7
(I714M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(L670V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NCR1
(G83D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1
(F47L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1
(H61N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1
(N143S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1, NLRP7
(G834E +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GLikely pathogenic
NCR1, NLRP7
(K1006N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(A874T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(Y894C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(F30V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1
(A173S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1
(Q165R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1
(T53P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1
(E76Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1
(H61D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
NLRP7-related disorder
GLikely benign
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
NLRP7-related disorder
GLikely benign
NCR1, NLRP7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NCR1, NLRP7
(R787H +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NCR1, NLRP7
(R909fs +1 more)
Duplication
(frameshift variant)
NLRP7-related disorder
GLikely pathogenic
NCR1, NLRP7
(R659H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(L823V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(C668R)
Single nucleotide variant
(missense variant +1 more)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(T878K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(N111D)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NCR1
(K43E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1
(R94Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1, NLRP7
(E1010D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(R91C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1, NLRP7
(R721L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(S674N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(E120G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NCR1, NLRP7
(A719T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(R241Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1, NLRP7
(M785I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(T4A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1, NLRP7
(C857Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1
(M88R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1
(S66F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCR1
(H61R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCR1, NLRP7
(R801C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(L908I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(E971K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(H907Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NCR1, NLRP7
(H818R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACNG6, CACNG7
+51 more
Duplication
not provided
GUncertain significance
BRSK1, CCDC106
+54 more
Copy number loss
not provided
GLikely pathogenic
NCR1, NLRP7
Deletion
(intron variant)
Hydatidiform mole
GLikely benign
NCR1, NLRP7
Single nucleotide variant
(intron variant)
Hydatidiform mole
+1 more
GBenign
NCR1, NLRP7
(L871F +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole
GUncertain significance
NCR1, NLRP7
Microsatellite
(intron variant)
Hydatidiform mole
GUncertain significance
TMC4, TMEM150B
+87 more
Copy number gain
not provided
GUncertain significance
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
NCR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(R795C +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GBenign
NCR1, NLRP7
(M779R +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
+1 more
GUncertain significance
NCR1, NLRP7
(C807F +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NCR1, NLRP7
(V1011L +2 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(N966S +2 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(G998R +2 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(T1000A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
NCR1, NLRP7
Single nucleotide variant
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(H707R +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(L773P +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(T746fs +1 more)
Insertion
(frameshift variant)
Hydatidiform mole, recurrent, 1
GLikely pathogenic
CDC42EP5, FCAR
+28 more
Copy number gain
not provided
GUncertain significance
NCR1, NLRP7
(T734M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NCR1, NLRP7
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
BRSK1, CACNG6
+68 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
NCR1, NLRP7
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
Hydatidiform mole, recurrent, 1
+1 more
GLikely benign
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(R795H +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
+1 more
GConflicting classifications of pathogenicity
NCR1, NLRP7
(H850Y +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
NCR1, NLRP7
(R917H +1 more)
Single nucleotide variant
(missense variant)
Hydatidiform mole, recurrent, 1
+1 more
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
NCR1, NLRP7
(T971M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
Single nucleotide variant
Hydatidiform mole, recurrent, 1
+1 more
GLikely benign
NCR1, NLRP7
Single nucleotide variant
Hydatidiform mole, recurrent, 1
GUncertain significance
NCR1, NLRP7
(N902Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FCAR, GP6
+4 more
Copy number gain
See cases
GUncertain significance
LILRB3, CDC42EP5
+32 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
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