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Links from Gene

Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YDJC
(S250I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(P261S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(L293H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(P261L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(R157P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(R76C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130067026, YDJC
(M6L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCR, C22orf15
+43 more
Copy number gain
not provided
GUncertain significance
IGLC1, IGLL1
+23 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+19 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+23 more
Copy number gain
not provided
GPathogenic
BCR, CCDC116
+23 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
LOC130067025, YDJC
(R197C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(G231S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(L318Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(R77L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
YDJC
(V167M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(R214L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(G125V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
YDJC
(E97K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130067025, YDJC
(R189W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(P252R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(R96W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
YDJC
(A218V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC130067025, YDJC
(H198Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(L66P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
YDJC
(E273K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(G142V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
YDJC
(R275H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCDC116, HIC2
+16 more
Copy number gain
not provided
GPathogenic
AIFM3, CCDC116
+23 more
Copy number gain
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
See cases
GPathogenic
ADORA2A, BCR
+50 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GPathogenic
AIFM3, CCDC116
+15 more
Copy number loss
not provided
GUncertain significance
BCR, C22orf15
+45 more
Copy number gain
not provided
GPathogenic
CCDC116, MAPK1
+9 more
Copy number gain
not provided
GUncertain significance
MIR130B, CCDC116
+15 more
Copy number gain
Chromosome 22q11.2 microduplication syndrome
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
RTN4R, SCARF2
+124 more
Copy number gain
Cat eye syndrome
+1 more
GPathogenic
BCR, CCDC116
+23 more
Copy number loss
not provided
GPathogenic
AIFM3, ARVCF
+60 more
Copy number gain
not provided
GPathogenic
CCDC116, SDF2L1
+2 more
Copy number loss
not provided
GUncertain significance
CCDC116, GGT2
+18 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
CCDC116, MAPK1
+12 more
Copy number gain
See cases
GPathogenic
CCDC116, GGTLC2
+16 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
MAPK1, PPM1F
+13 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+25 more
Copy number gain
not provided
GPathogenic
HIC2, YDJC
+23 more
Copy number loss
not provided
GPathogenic
ADORA2A, AIFM3
+66 more
Copy number gain
not provided
GPathogenic
HIC2, HIRA
+133 more
Copy number gain
not provided
GPathogenic
ADA2, AIFM3
+76 more
Copy number gain
not provided
GPathogenic
AIFM3, ARVCF
+76 more
Deletion
DiGeorge syndrome
GPathogenic
CCDC116, MAPK1
+10 more
Copy number gain
not provided
GUncertain significance
BCR, CCDC116
+23 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+20 more
Copy number loss
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
BCR, CCDC116
+25 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+23 more
Copy number loss
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
CCDC116, GGTLC2
+19 more
Copy number gain
not provided
GLikely pathogenic
CCDC116, MAPK1
+15 more
Deletion
Chromosome 22q11.2 deletion syndrome, distal
GPathogenic
ADORA2A, BCR
+47 more
Copy number loss
not provided
GPathogenic
BCR, C22orf15
+45 more
Copy number loss
not provided
GPathogenic
AIFM3, BCR
+39 more
Copy number loss
not provided
GPathogenic
BCR, CCDC116
+25 more
Copy number loss
not provided
GPathogenic
CCDC116, GGT2
+18 more
Copy number loss
not provided
GPathogenic
CCDC116, HIC2
+16 more
Copy number loss
not provided
GPathogenic
CCDC116, HIC2
+16 more
Copy number gain
not provided
GUncertain significance
AIFM3, CCDC116
+23 more
Copy number loss
See cases
GUncertain significance
BCR, CCDC116
+23 more
Copy number loss
See cases
GPathogenic
BCR, CCDC116
+23 more
Copy number gain
See cases
GUncertain significance
CCDC116, HIC2
+16 more
Copy number loss
See cases
GPathogenic
CCDC116, GGTLC2
+17 more
Copy number gain
See cases
GUncertain significance
CCDC116, ADORA2A
+48 more
Copy number gain
See cases
GUncertain significance
CCDC116, HIC2
+16 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
AIFM3, CCDC116
+23 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
CCDC116, GGTLC2
+14 more
Copy number gain
See cases
GPathogenic
AIFM3, BCR
+40 more
Copy number loss
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
ADA2, ADORA2A
+135 more
Copy number gain
See cases
GPathogenic
GGTLC3, GNB1L
+84 more
Copy number gain
See cases
GPathogenic
BCR, CCDC116
+25 more
Copy number gain
See cases
GPathogenic
CCDC116, MAPK1
+13 more
Copy number loss
See cases
GLikely pathogenic
DGCR6, GSC2
+105 more
Copy number loss
Premature ovarian failure
GBenign
CCDC116, IGL
+92 more
Copy number loss
See cases
GPathogenic
CCDC116, FAM230B
+94 more
Copy number gain
See cases
GUncertain significance
CCDC116, GGTLC2
+94 more
Copy number loss
See cases
GPathogenic
AIFM3, ARVCF
+378 more
Copy number loss
See cases
GPathogenic
CCDC116, GGTLC2
+86 more
Copy number gain
See cases
GPathogenic
CCDC116, FAM230B
+99 more
Copy number loss
See cases
GPathogenic
LOC130066994, LOC130066995
+287 more
Copy number gain
See cases
GPathogenic
BCR, C22orf15
+229 more
Copy number gain
See cases
GUncertain significance
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC129929044, LOC129929045
+176 more
Copy number loss
See cases
GPathogenic
BCR, C22orf15
+223 more
Copy number loss
See cases
GPathogenic
CCDC116, FAM230B
+102 more
Copy number loss
See cases
GPathogenic
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