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Links from Gene

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARFGAP1
(I279V +3 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
ADRM1, ARFGAP1
+27 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
ARFGAP1
(S270N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(R107Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(R107W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(A105V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(S377L +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(A239V +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(D234N +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1, ARFRP1
+22 more
Copy number loss
not specified
GPathogenic
ARFGAP1, BHLHE23
+15 more
Copy number loss
not specified
GPathogenic
ARFGAP1, CHRNA4
+1 more
Copy number loss
not provided
GUncertain significance
ARFGAP1, BIRC7
+13 more
Copy number gain
See cases
GUncertain significance
ARFGAP1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
ARFGAP1
(P260S +3 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
ARFGAP1
(D379N +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(P78L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
ARFGAP1, ARFRP1
+165 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ARFGAP1
(G338D +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(G271R +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GLikely benign
ARFGAP1
(S277F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(P143S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(I70V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARFGAP1
(N29S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARFGAP1, BHLHE23
+13 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
ABHD16B, ADRM1
+50 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
ARFGAP1
(E12A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(K165E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(N278S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(L87F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(G255S +3 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
ARFGAP1
(V278A +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GLikely benign
ARFGAP1
(V245I +3 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
ARFGAP1
(A123V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(A81V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(S230Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(S368I +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(E357K +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(D302A +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(A360T +3 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ARFGAP1
(A212V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(V146L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(S205F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(A127V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARFGAP1
(F133I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1
(H132R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD16B, ADRM1
+63 more
Copy number gain
not provided
GUncertain significance
ADRM1, ARFGAP1
+198 more
Duplication
not specified
GUncertain significance
ARFGAP1, BHLHE23
+102 more
Duplication
not provided
GUncertain significance
ARFGAP1, BIRC7
+14 more
Copy number loss
not specified
GPathogenic
ABHD16B, ARFGAP1
+38 more
Copy number loss
not specified
GPathogenic
ABHD16B, ARFGAP1
+51 more
Copy number loss
not specified
GPathogenic
OGFR, OPRL1
+64 more
Copy number gain
not specified
GUncertain significance
LAMA5, LIME1
+88 more
Copy number gain
not specified
GPathogenic
ARFGAP1, BHLHE23
+14 more
Deletion
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
ARFGAP1, CHRNA4
+19 more
Deletion
Seizure
GLikely pathogenic
ARFGAP1, BHLHE23
+7 more
Copy number loss
not provided
GUncertain significance
ABHD16B, ARFGAP1
+35 more
Copy number loss
not provided
GPathogenic
ARFGAP1, BIRC7
+14 more
Copy number gain
not provided
GUncertain significance
ARFGAP1, BIRC7
+14 more
Copy number loss
Developmental and epileptic encephalopathy, 2
GPathogenic
HELZ2, DIDO1
+51 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
PCMTD2, SAMD10
+47 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
NKAIN4, COL20A1
+44 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
UCKL1, ZGPAT
+27 more
Copy number loss
Seizures, benign familial neonatal, 1
+1 more
GLikely pathogenic
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
ARFGAP1, BHLHE23
+20 more
Copy number loss
Epileptic spasm
GPathogenic
MRGBP, NKAIN4
+49 more
Duplication
Developmental and epileptic encephalopathy, 33
+1 more
GUncertain significance
CHRNA4, STMN3
+20 more
Copy number gain
not provided
GUncertain significance
GMEB2, KCNQ2
+10 more
Copy number gain
not provided
GUncertain significance
ABHD16B, ARFGAP1
+49 more
Copy number loss
not provided
GPathogenic
BHLHE23, ZGPAT
+87 more
Copy number gain
not provided
GPathogenic
CDH4, CHRNA4
+68 more
Copy number gain
not provided
GPathogenic
ARFGAP1, BIRC7
+14 more
Copy number gain
not provided
GUncertain significance
ARFGAP1, BHLHE23
+23 more
Copy number gain
not provided
GUncertain significance
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
COL20A1, NKAIN4
+14 more
Copy number loss
not provided
GPathogenic
NKAIN4, HAR1B
+7 more
Copy number gain
not provided
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ARFGAP1, BHLHE23
+8 more
Copy number loss
See cases
GLikely benign
ARFGAP1, ARFRP1
+23 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ARFGAP1
+33 more
Copy number loss
See cases
GPathogenic
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
COL9A3, DIDO1
+46 more
Copy number loss
not provided
GLikely pathogenic
ARFGAP1, ARFRP1
+35 more
Copy number loss
See cases
GPathogenic
COL20A1, BHLHE23
+24 more
Copy number loss
See cases
GPathogenic
PPDPF, OPRL1
+35 more
Copy number loss
See cases
GPathogenic
ARFGAP1, BIRC7
+15 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADRM1, ARFGAP1
+26 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ARFGAP1, NKAIN4
Complex
Breast ductal adenocarcinoma
GUncertain significance
ARFGAP1, BHLHE23
+23 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
ABHD16B, ARFGAP1
+177 more
Copy number gain
See cases
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC130066412, LOC130066413
+244 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
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