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Links from MedGen

Items: 1 to 100 of 141

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHANK3
(H1064fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
CHKB, LOC112695108
+404 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
HIRA
Copy number gain
Phelan-McDermid syndrome
GUncertain significance
SHANK3
Single nucleotide variant
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(E1096fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(V1568fs)
Microsatellite
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(E1588* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(A1423fs)
Duplication
(frameshift variant)
Schizophrenia 15
+1 more
GPathogenic
SHANK3
(E1276A +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(V263M +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(P668R +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(V123I +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
Single nucleotide variant
(synonymous variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(E1391* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(H1693fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(R1539fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(S1455fs)
Microsatellite
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+178 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
SHANK3
(D972fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(E1130fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(T1448fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(Q112P +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GLikely benign
SHANK3
(R1115* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GLikely pathogenic
LOC126863188, SHANK3
Single nucleotide variant
(splice donor variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(A186T +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(P1148fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(R192H +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(K117R +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(R133H +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(M1317fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(G52E)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(G1723fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(Y1636*)
Duplication
(nonsense +1 more)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(R357* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(H238R +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(S1560W +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
COL4A5
(K330R)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(Y1561* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(D1212fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(F1168fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(Q1318fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(D804fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(F1084fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(G250V +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
Deletion
(intron variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(S1155C +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(Y957fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(E991fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(R1255Q +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(L1418F +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(Q1502R +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(T1063fs)
Insertion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(P1148fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(Y882* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+33 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
ACR, SHANK3
Copy number loss
Phelan-McDermid syndrome
GPathogenic
(R300L +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(E1130fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(R256C)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(Q1318fs)
Deletion
(frameshift variant)
Schizophrenia 15
+1 more
GPathogenic
SHANK3
(A319V +1 more)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
Single nucleotide variant
(synonymous variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(A1289fs)
Duplication
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(P1630L)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
Deletion
(splice donor variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(G438S)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
+1 more
GUncertain significance
SHANK3
Single nucleotide variant
(intron variant)
Phelan-McDermid syndrome
GBenign
A4GALT, ACR
+96 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
SHANK3
(E1425fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(Q446*)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GPathogenic
SHANK3
Single nucleotide variant
(synonymous variant)
Phelan-McDermid syndrome
+2 more
GConflicting classifications of pathogenicity
SHANK3
(N355K)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SHANK3
(P1005L)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(Q1578*)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(V107L)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
SHANK3
(K192*)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(A139T)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GUncertain significance
LOC126863188, SHANK3
(R624P)
Single nucleotide variant
(missense variant)
Phelan-McDermid syndrome
GLikely pathogenic
SHANK3
(S1686W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SHANK3
(R883P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SHANK3
(L1105fs)
Deletion
(frameshift variant)
Schizophrenia 15
+1 more
GLikely pathogenic
SHANK3
(E1371del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
SHANK3
(V1432fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
CPT1B, CRELD2
+401 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC121627953, LOC121627954
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
DENND6B, HDAC10
+190 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067779, LOC130067780
+281 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ADM2, ALG12
+333 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+206 more
Deletion
Phelan-McDermid syndrome
GPathogenic
DENND6B, EFCAB6
+443 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863185, LOC126863186
+282 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863188, LOC129391286
+228 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863183, LOC126863184
+207 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067774, LOC130067775
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
TRABD, TRABD-AS1
+338 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+295 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+226 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CRELD2, DENND6B
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067781, LOC130067782
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
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