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Links from Gene

Items: 1 to 100 of 264

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GIGYF2, KCNJ13
(D88E +1 more)
Single nucleotide variant
(missense variant +1 more)
KCNJ13-related condition
GUncertain significance
GIGYF2, KCNJ13
(S253N +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
GIGYF2, KCNJ13
(M57I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
GIGYF2-related disorder
GLikely benign
GIGYF2, KCNJ13
(D24Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(F46L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(M101T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(E186* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(R91C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(M49fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(F185Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(K7fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(Q219P +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(R91H +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(S3N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(V97I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
ACKR3, AGAP1
+79 more
Copy number gain
not provided
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
CHRND, LRRFIP1
+123 more
Duplication
not provided
GPathogenic
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(R225Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
ALPG, ALPI
+19 more
Copy number gain
See cases
GUncertain significance
GIGYF2, KCNJ13
(I135fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
GIGYF2, KCNJ13
(H179D +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(L93F)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(R171S +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(Y244H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(R123W +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
GIGYF2, KCNJ13
(L137F +1 more)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(S3G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(M31I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Deletion
(intron variant)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(G148A +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(S287C +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(E153K +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(F185S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(L5V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GIGYF2, KCNJ13
(T97I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(M51T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(A78E +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(L173R +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(F64S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(W45G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(T120* +1 more)
Duplication
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(P116L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(R166G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(I9T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(M49T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GIGYF2, KCNJ13
(G83D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(L177F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(P246L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(L74V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(D32E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(L223W +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(E180K +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
CHRND, CHRNG
+93 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
(C202Y +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GIGYF2, KCNJ13
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ALPG, ALPI
+44 more
Copy number loss
not specified
GLikely pathogenic
ALPG, ALPI
+61 more
Copy number loss
not specified
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
GIGYF2, KCNJ13
(P249S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(Y218C +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(Q258H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(A44D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GIGYF2, KCNJ13
(T241A +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
KCNJ13, GIGYF2
(L48R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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