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Links from Gene

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC5
(R1041L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(A1343T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(K780E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC121048724, LOC121048725
+160 more
Copy number loss
Esodeviation
+7 more
GPathogenic
ABCC5, ABCF3
+136 more
Copy number gain
See cases
GPathogenic
ABCC5
(I173N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(S1281I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R120H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(R120C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(I706S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(T1140M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R1037W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(G1005R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(I862F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(S368A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(E74K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(N164S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(D427H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(R389H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(F38S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5, ABCF3
+47 more
Copy number loss
not specified
GPathogenic
ABCC5
(N1068S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
ABCC5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ABCC5
(S29Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ABCC5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCC5
(T269I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(V415M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(I4N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(R168Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(I279T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(T966N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R957Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(A710V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(E555K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(N323D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(A1302G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(L1024P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(I180M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(T834A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAMK2N2, CLCN2
+26 more
Deletion
ALG3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ABCC5, ABCF3
+21 more
Deletion
not provided
GUncertain significance
ABCC5
(R101H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(M308V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(R169K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(E140D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(A210T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(G417R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(S672G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R104K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(G224D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(D178G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R813G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(D427N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(K750Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(E826K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(A164T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCC5
(R1203Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABCC5
(T911S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R1335Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(L424V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(R251Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(G299E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(I1030F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5
(R245Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC5
(A962T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCUN1D1, ALG3
+41 more
Copy number loss
not provided
GPathogenic
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ABCC5, ABCF3
+118 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+53 more
Copy number loss
Short stature
GPathogenic
ABCC5, ABCF3
+49 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+59 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+82 more
Copy number gain
not provided
GPathogenic
ABCC5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ECE2, FAM131A
+34 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
CLCN2, YEATS2
+52 more
Copy number loss
not provided
GPathogenic
YEATS2, PARL
+3 more
Copy number gain
not provided
GUncertain significance
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
ABCC5
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCC5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KNG1, FETUB
+75 more
Copy number loss
not provided
GPathogenic
PPP1R2, TBCCD1
+126 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+85 more
Copy number loss
See cases
GLikely pathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+126 more
Copy number loss
See cases
GLikely pathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+63 more
Copy number gain
See cases
GUncertain significance
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