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Links from Gene

Items: 1 to 100 of 159

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG4B
(V255I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(C306G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(I42F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(R307C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR3, AGXT
+55 more
Deletion
Bethlem myopathy 1A
GPathogenic
ACKR3, AGAP1
+60 more
Copy number loss
not provided
GPathogenic
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+35 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+60 more
Copy number loss
See cases
GPathogenic
ATG4B
(V26I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(P20R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(F195V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(P188L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(V175G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(S110R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(L92I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(G62V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B, D2HGDH
+5 more
Copy number gain
not specified
GUncertain significance
ACKR3, AGAP1
+58 more
Copy number loss
not specified
GPathogenic
ACKR3, AGAP1
+58 more
Copy number loss
not specified
GPathogenic
ATG4B, D2HGDH
+4 more
Copy number gain
not provided
GUncertain significance
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
AQP12A, AGXT
+51 more
Copy number loss
not provided
GPathogenic
CHRND, LRRFIP1
+123 more
Duplication
not provided
GPathogenic
ATG4B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATG4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATG4B
(P216L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(E41K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(V374A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATG4B
(S107G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(R201W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(N113S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(A318T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(H300Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(E237K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(A311V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(R77Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(A208G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO7, ACKR3
+59 more
Deletion
Bethlem myopathy 1A
GPathogenic
ATG4B
(E21D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(D200N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(P304L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(R90W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(N214I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(C203S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(R12Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(L228R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(I42V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(M170V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATG4B
(N330I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR3, AGAP1
+59 more
Copy number loss
not provided
GPathogenic
ATG4B, BOK
+8 more
Copy number loss
not provided
GUncertain significance
ACKR3, AGAP1
+60 more
Copy number loss
not provided
GPathogenic
ATG4B, D2HGDH
+5 more
Copy number gain
not provided
GUncertain significance
AGXT, ANKMY1
+39 more
Copy number loss
not provided
GPathogenic
HES6, ILKAP
+58 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
CHRND, CHRNG
+93 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
LOC122889013, LOC122889014
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+53 more
Deletion
D-2-hydroxyglutaric aciduria 1
GPathogenic
ANKMY1, ATG4B
+53 more
Duplication
D-2-hydroxyglutaric aciduria 1
+3 more
GUncertain significance
ACKR3, AGAP1
+59 more
Duplication
not provided
GUncertain significance
AGXT, ANKMY1
+36 more
Copy number loss
not provided
GPathogenic
PASK, RAB17
+53 more
Copy number loss
not provided
GPathogenic
ATG4B, D2HGDH
+4 more
Copy number loss
not provided
GUncertain significance
LOC100128563, MAB21L4
+37 more
Copy number gain
not provided
GUncertain significance
D2HGDH, DTYMK
+57 more
Deletion
Intellectual disability
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
DTYMK, DUSP28
+96 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
DTYMK, ING5
+6 more
Copy number gain
not provided
GUncertain significance
AGXT, ANO7
+19 more
Copy number gain
See cases
GUncertain significance
AGXT, ANO7
+19 more
Copy number gain
See cases
GUncertain significance
AGXT, ANKMY1
+48 more
Copy number gain
See cases
GUncertain significance
AGXT, ANO7
+15 more
Deletion
not provided
GPathogenic
ACKR3, AGAP1
+63 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+119 more
Copy number gain
not provided
GPathogenic
THAP4, ATG4B
+8 more
Copy number loss
not provided
GLikely pathogenic
ANO7, THAP4
+17 more
Copy number loss
not provided
GLikely pathogenic
ING5, SEPTIN2
+15 more
Copy number loss
not provided
GLikely pathogenic
OR6B2, RNPEPL1
+35 more
Copy number loss
not provided
GPathogenic
GAL3ST2, SNED1
+35 more
Copy number loss
not provided
GPathogenic
ACKR3, AGXT
+56 more
Copy number gain
not provided
GPathogenic
GPC1, GPR35
+24 more
Copy number loss
not provided
GUncertain significance
ATG4B
Single nucleotide variant
(intron variant)
not provided
GBenign
AGXT, ANKMY1
+37 more
Copy number loss
See cases
GPathogenic
TWIST2, ANKMY1
+43 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
SCLY, SEPTIN2
+48 more
Copy number loss
Chromosome 2q37 deletion syndrome
GLikely pathogenic
OR6B2, PASK
+56 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ACKR3, AGAP1
+65 more
Copy number gain
not provided
GPathogenic
AQP12B, ASB1
+59 more
Copy number loss
not provided
GPathogenic
GPC1, MAB21L4
+35 more
Copy number loss
not provided
GPathogenic
AGXT, ANKMY1
+34 more
Copy number loss
not provided
GPathogenic
AGXT, ANKMY1
+33 more
Copy number loss
not provided
GPathogenic
STK25, D2HGDH
+17 more
Copy number loss
not provided
GPathogenic
SNED1, PASK
+15 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+59 more
Copy number loss
See cases
GPathogenic
ANO7, ATG4B
+15 more
Copy number gain
See cases
GUncertain significance
ACKR3, AGAP1
+74 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+33 more
Copy number loss
See cases
GLikely pathogenic
AGXT, ANKMY1
+53 more
Copy number loss
See cases
GPathogenic
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