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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ZFYVE21, ZNF839
+662 more
Copy number gain
See cases
GPathogenic
SNORD114-11, SNORD114-12
+754 more
Copy number loss
See cases
GPathogenic
LOC130056455, LOC130056456
+670 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+666 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+653 more
Copy number gain
See cases
GPathogenic
LOC130056511, LOC130056512
+631 more
Copy number loss
See cases
GPathogenic
LOC126862061, LOC126862062
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
PPP2R5C, RCOR1
+571 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+561 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+441 more
Copy number loss
See cases
GPathogenic
LOC130056610, LOC130056611
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
IGHV3-38, IGHV3-43
+397 more
Copy number loss
See cases
GPathogenic
LOC130056636, TMEM121
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADSS1, AKT1
+177 more
Copy number loss
See cases
GPathogenic
C14orf180, CDC42BPB
+367 more
Copy number loss
See cases
GPathogenic
BTBD6, C14orf180
+304 more
Copy number gain
See cases
GPathogenic
ASPG, ATP5MJ
+72 more
Copy number gain
See cases
GUncertain significance
KLC1, XRCC3
(R338*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
GUncertain significance
KLC1, XRCC3
(G309S)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
XRCC3, KLC1
(R302C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XRCC3, KLC1
(R300W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XRCC3, KLC1
(E278K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLC1, XRCC3
(D277Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLC1, XRCC3
(G271R)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
KLC1, XRCC3
(A268T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLC1, XRCC3
(E265K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XRCC3, KLC1
Single nucleotide variant
(intron variant)
not provided
GBenign
KLC1, XRCC3
(R243H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
KLC1, XRCC3
(R243C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLC1, XRCC3
(T241M)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
XRCC3, KLC1
(F223L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XRCC3, KLC1
(R220H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLC1, XRCC3
(R208H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLC1, XRCC3
Single nucleotide variant
(intron variant)
Breast cancer, susceptibility to
Grisk factor
XRCC3
(D186N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
XRCC3
(R162H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(R162P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(M155V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
XRCC3
(Q152K)
Single nucleotide variant
(missense variant)
Ovarian cancer
GBenign
XRCC3
(G131R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(R128W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(G107R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(R94H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
XRCC3
(T77K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(R74Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(R74W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
XRCC3
(R51K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(L38P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XRCC3
(E26del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
DIO3OS, WDR20
+91 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+182 more
Copy number gain
not provided
GPathogenic
ACOT4, ACOT6
+353 more
Copy number gain
not provided
GPathogenic
ADSS1, AHNAK2
+50 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+47 more
Duplication
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
ADSS1, AHNAK2
+46 more
Deletion
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
ATP5MJ, BAG5
+37 more
Duplication
not provided
GUncertain significance
SIVA1, TDRD9
+67 more
Copy number loss
not specified
GPathogenic
ADSS1, AHNAK2
+47 more
Duplication
not provided
GUncertain significance
ADSS1, AHNAK2
+60 more
Copy number loss
not provided
GPathogenic
IGHV3-23, IGHM
+62 more
Copy number loss
not provided
GPathogenic
PPP2R5C, RCOR1
+112 more
Copy number loss
See cases
GPathogenic
CEP170B, BAG5
+56 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+104 more
Copy number gain
not provided
GPathogenic
BTBD6, MIR369
+164 more
Copy number gain
not provided
GPathogenic
ADSS1, AHNAK2
+67 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+58 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+98 more
Copy number gain
not provided
GPathogenic
INF2, JAG2
+30 more
Copy number loss
not provided
GLikely pathogenic
TMEM253, TMEM260
+638 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+638 more
Copy number gain
not provided
GPathogenic
ATXN3, BAG5
+638 more
Copy number gain
not provided
GPathogenic
AMN, TEX22
+53 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+96 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+49 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
PLD4, PPP1R13B
+56 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+62 more
Copy number loss
See cases
GPathogenic
ACTN1, ACTR10
+635 more
Copy number gain
See cases
GPathogenic
AMN, ATP5MJ
+15 more
Copy number loss
See cases
GPathogenic
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