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Links from Gene

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFNB2, LOC126861841
Single nucleotide variant
(synonymous variant)
EFNB2-related disorder
GBenign
EFNB2
(A157T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFNB2
(R156K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFNB2
(D146N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD13, ADPRHL1
+66 more
Copy number gain
not provided
GPathogenic
ARGLU1, BIVM
+6 more
Copy number loss
See cases
GUncertain significance
ABHD13, ARGLU1
+34 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+54 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+39 more
Copy number gain
not specified
GUncertain significance
ABHD13, ADPRHL1
+53 more
Copy number loss
not specified
GPathogenic
ABHD13, ARGLU1
+7 more
Copy number loss
not specified
GUncertain significance
DAOA, DAOA-AS1
+1 more
Copy number loss
not specified
GUncertain significance
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+42 more
Copy number loss
not specified
GPathogenic
EFNB2, LOC126861841
Single nucleotide variant
(synonymous variant)
EFNB2-related disorder
GLikely benign
EFNB2
Single nucleotide variant
(synonymous variant)
EFNB2-related disorder
GLikely benign
EFNB2, LOC126861841
Single nucleotide variant
(synonymous variant)
EFNB2-related disorder
GLikely benign
EFNB2, LOC126861841
Single nucleotide variant
(intron variant)
EFNB2-related disorder
GLikely benign
ANKRD10, ANKRD10-IT1
+98 more
Copy number loss
not provided
GPathogenic
GPR18, GRTP1
+121 more
Copy number gain
not provided
GPathogenic
TBC1D4, TEX29
+129 more
Copy number gain
not provided
GPathogenic
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
LOC130010165, LOC130010166
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
EFNB2, LOC126861841
(S216L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2, LOC126861841
(H184Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2
(V70I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2
(R5G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2
(P179A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFNB2
(G278R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2, LOC126861841
(S169G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2, LOC126861841
(A258S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFNB2
(R151H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFNB2
(D6N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD13, ADPRHL1
+67 more
Copy number gain
not provided
GPathogenic
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
ABHD13, ARGLU1
+25 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+116 more
Copy number gain
not provided
GPathogenic
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+93 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
ABHD13, ADPRHL1
+42 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+62 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+96 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+97 more
Copy number gain
not specified
GPathogenic
DCUN1D2, ERCC5
+101 more
Copy number loss
not specified
GPathogenic
MIR18A, MIR19A
+104 more
Copy number gain
not specified
GPathogenic
ACOD1, ADPRHL1
+129 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
GTF2F2, PRR20D
+175 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ARGLU1, DAOA
+2 more
Copy number loss
not provided
GLikely pathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
ITGBL1, LIG4
+58 more
Deletion
Distal monosomy 13q
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+55 more
Deletion
not provided
GPathogenic
DCUN1D2, TMEM255B
+42 more
Copy number loss
not provided
GPathogenic
EFNB2
(Y73*)
Single nucleotide variant
(nonsense)
not specified
GLikely pathogenic
ARGLU1, ABHD13
+7 more
Copy number loss
not provided
GPathogenic
ABHD13, ADPRHL1
+76 more
Copy number loss
not provided
GPathogenic
CDC16, NALCN
+142 more
Copy number loss
not provided
GPathogenic
EFNB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EFNB2, LOC126861841
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARGLU1, DAOA
+2 more
Copy number loss
not provided
GUncertain significance
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+129 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+86 more
Copy number gain
not provided
GUncertain significance
ABHD13, ADPRHL1
+56 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+103 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+49 more
Copy number loss
not provided
GPathogenic
ARGLU1, COL4A1
+24 more
Copy number loss
not provided
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+77 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+137 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+86 more
Copy number loss
See cases
GPathogenic
TGDS, TM9SF2
+97 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+53 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+100 more
Copy number gain
See cases
GPathogenic
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ARGLU1
+58 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+125 more
Copy number gain
See cases
GPathogenic
MIR4500HG, MIR92A1
+102 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
See cases
GPathogenic
ABHD13, ARGLU1
+6 more
Copy number loss
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+94 more
Copy number loss
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+325 more
Copy number gain
See cases
GUncertain significance
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+332 more
Copy number loss
See cases
GPathogenic
LINC00399, LINC00443
+152 more
Copy number gain
See cases
GUncertain significance
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
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