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Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
AMMECR1L, BIN1
+121 more
Copy number loss
See cases
GPathogenic
LOC115945190, LOC120961783
+101 more
Copy number loss
See cases
GPathogenic
AMMECR1L, BIN1
+116 more
Copy number loss
See cases
GLikely pathogenic
AMMECR1L, BIN1
+100 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
LOC129934710, LOC129934711
+112 more
Deletion
See cases
Gnot provided
AMMECR1L, BIN1
+125 more
Copy number gain
See cases
GUncertain significance
SAP130
(R1017Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(N1001D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(E975K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(E933K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(V929I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(P870H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(R881H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(E859D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(P796A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(M794I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(T815A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(T805A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(M768V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(V779I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(V747I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(A795S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(P727S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(V712I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(I697V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(P722L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(V722I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(A685V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1, LOC112806046
+26 more
Copy number gain
See cases
GLikely benign
SAP130
(R656W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SAP130
(S665W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
Insertion
(inframe_insertion)
not provided
GUncertain significance
SAP130
(I570V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(L560V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(I549F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(Q542H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(P517S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(A537T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(S493A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(R463W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(M411V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(I342V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(A310S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(R334H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(V263G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(N283S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(S256C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(I247T +1 more)
Single nucleotide variant
(missense variant)
SAP130-related disorder
GUncertain significance
SAP130
(S242N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(G113E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(Q87* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SAP130
(A50V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(A35T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(P46A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SAP130
(R34L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129934738, SAP130
(G19R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934738, SAP130
(A14G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934738, SAP130
(P7S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934738, SAP130
(P3L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
AMMECR1L, BIN1
+16 more
Copy number gain
not specified
GUncertain significance
AMMECR1L, BIN1
+15 more
Copy number loss
not provided
GUncertain significance
AMMECR1L, BIN1
+14 more
Deletion
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
AMMECR1L, BIN1
+15 more
Deletion
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
AMMECR1L, ERCC3
+12 more
Copy number gain
not specified
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
AMER3, AMMECR1L
+44 more
Copy number loss
See cases
GLikely pathogenic
WDR33, POLR2D
+3 more
Copy number gain
not provided
GUncertain significance
SAP130, UGGT1
Copy number loss
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
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