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Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066240, LOC130066241
+553 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+355 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
ADRM1, ARFGAP1
+198 more
Duplication
not specified
GUncertain significance
ARFGAP1, ARFRP1
+183 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+249 more
Copy number loss
See cases
GPathogenic
OGFR-AS1, OPRL1
+248 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+244 more
Copy number loss
See cases
GPathogenic
ARFGAP1, ARFRP1
+165 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
LOC130066361, LOC130066362
+102 more
Duplication
not provided
GUncertain significance
RGS19, RTEL1
+181 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number gain
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number loss
See cases
GLikely pathogenic
ABHD16B, ARFRP1
+156 more
Copy number gain
See cases
GUncertain significance
EEF1A2, KCNQ2
+8 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
EEF1A2, FNDC11
+59 more
Copy number loss
See cases
GPathogenic
PTK6, PPDPF
+6 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
PTK6
(P450R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(R438Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(R438W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(L437P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(P432T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(R405C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(A402T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(D369N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(K367E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(S365F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(G362S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(A358V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(P356T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Keratoconus
GUncertain significance
PTK6
(I337T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(L333F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(G329R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(D312N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(P285S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(D258E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(R243W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(G200S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(T192M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(P187L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(D182N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PTK6
(P130R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(R127H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(R165Q)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
PTK6
(H162L)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
PTK6
(S159T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(A84E)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PTK6
(A123D)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
PTK6
(R119W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(P110Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK6
(V106I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK6
(G100V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK6
(T99M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK6
(R91W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK6
(R85H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK6
(V73M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(T72M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(E42Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(E42K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTK6
(G10A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTK6
(R4W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGAP1, ARFRP1
+22 more
Copy number loss
not specified
GPathogenic
ABHD16B, ARFRP1
+24 more
Copy number gain
not provided
GUncertain significance
CHRNA4, COL20A1
+8 more
Copy number gain
not provided
GUncertain significance
ARFGAP1, BIRC7
+13 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
SRMS, STMN3
+9 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SLC17A9, TNFRSF6B
+50 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
CHRNA4, EEF1A2
+9 more
Duplication
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
EEF1A2, FNDC11
+8 more
Deletion
Dyskeratosis congenita, autosomal recessive 5
+2 more
GPathogenic
ABHD16B, ADRM1
+63 more
Copy number gain
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
CHRNA4, EEF1A2
+10 more
Deletion
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
+1 more
GPathogenic
ABHD16B, ARFGAP1
+35 more
Copy number loss
not provided
GPathogenic
ARFGAP1, BIRC7
+14 more
Copy number gain
not provided
GUncertain significance
EEF1A2, FNDC11
+4 more
Copy number loss
not provided
GUncertain significance
ARFGAP1, BIRC7
+14 more
Copy number loss
Developmental and epileptic encephalopathy, 2
GPathogenic
CHRNA4, EEF1A2
+7 more
Copy number loss
Developmental and epileptic encephalopathy, 7
+1 more
GLikely pathogenic
SLC17A9, ZGPAT
+51 more
Copy number loss
Developmental and epileptic encephalopathy, 7
+1 more
GLikely pathogenic
HAR1A, HAR1B
+47 more
Copy number loss
Developmental and epileptic encephalopathy, 7
+1 more
GLikely pathogenic
CHRNA4, ABHD16B
+44 more
Copy number loss
Developmental and epileptic encephalopathy, 7
+1 more
GLikely pathogenic
COL20A1, DNAJC5
+27 more
Copy number loss
Developmental and epileptic encephalopathy, 7
+1 more
GLikely pathogenic
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
EEF1A2, FNDC11
+8 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
ARFGAP1, BHLHE23
+20 more
Copy number loss
Epileptic spasm
GPathogenic
ABHD16B, ADRM1
+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
PTK6, FNDC11
+8 more
Copy number loss
not provided
GUncertain significance
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