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Items: 1 to 100 of 812

  • The following terms were not found in ClinVar: Pentyl, sulfonyl.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112577491, LOC112577504
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
CLCN6
(N333K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLCN6
(D569N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
LOC126805640, LOC126805641
+206 more
Copy number loss
See cases
GPathogenic
CLCNKA, LOC106501712
(N214D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCNKA, LOC106501712
(T529N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCNKB, LOC106501713
(N143K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCNKB, LOC106501713
(N313D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCNKB, LOC106501713
(N459H +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+3 more
GUncertain significance
LOC129929733, LOC129929734
+1145 more
Copy number gain
See cases
GPathogenic
CLIC4
(N115T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRL2, ADGRL4
+241 more
Copy number loss
See cases
GPathogenic
LOC129930966, LOC129930967
+548 more
Copy number gain
See cases
GPathogenic
CLCA2
(N179S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLCA2
(D542N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLCA1
(K5N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLCA1
(K5N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLCA1
(N29H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLCA1
(N416S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLCA4
(D33N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLCA4, CLCA4-AS1
(N671K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129388571, LOC129388572
+563 more
Copy number gain
See cases
GPathogenic
CLCC1, GPSM2
(N669T)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
CLCC1, GPSM2
Single nucleotide variant
(3 prime UTR variant +2 more)
Chudley-McCullough syndrome
+2 more
GConflicting classifications of pathogenicity
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1325 more
Copy number gain
See cases
GPathogenic
PACC1
(D146N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACC1
(S50N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
ACTL8, AKR7A2
+58 more
Copy number loss
not specified
GPathogenic
DNAJB4, DNASE2B
+52 more
Copy number loss
not provided
GLikely pathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
IGFN1, IKBKE
+211 more
Copy number gain
not provided
GPathogenic
ABCB10, ACBD3
+381 more
Copy number gain
See cases
GPathogenic
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
EMC1, EPHA2
+73 more
Copy number loss
not provided
GPathogenic
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
CAPN9, CATSPERE
+433 more
Copy number gain
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL2
+80 more
Copy number loss
See cases
GPathogenic
EGLN1, EIF2D
+393 more
Copy number gain
See cases
GPathogenic
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
CASR
(L125P)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+5 more
GConflicting classifications of pathogenicity
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+867 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
LOC126806887, LOC126806888
+160 more
Copy number loss
Esodeviation
+7 more
GPathogenic
CLCN2
(D851N +3 more)
Single nucleotide variant
(missense variant)
See cases
+2 more
GConflicting classifications of pathogenicity
CLCN2
(D850N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCN2
(S769N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCN2
(D439N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CLCN2
(N359S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLCN2
(G24D)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+1 more
GPathogenic/Likely pathogenic
ABCC5, ABCF3
+136 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+47 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
AADAC, AADACL2
+286 more
Duplication
not provided
GPathogenic
ABCC5, ABCF3
+26 more
Deletion
ALG3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
DCUN1D1, ALG3
+41 more
Copy number loss
not provided
GPathogenic
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ABCC5, ABCF3
+118 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+59 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+82 more
Copy number gain
not provided
GPathogenic
ECE2, FAM131A
+34 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
CLCN2, YEATS2
+52 more
Copy number loss
not provided
GPathogenic
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
FYTTD1, FAM43A
+103 more
Copy number gain
not provided
GPathogenic
KNG1, FETUB
+75 more
Copy number loss
not provided
GPathogenic
PPP1R2, TBCCD1
+126 more
Copy number gain
not provided
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
CMTM6, CMTM7
+1054 more
Copy number gain
See cases
GPathogenic
LRRC31, MCCC1
+198 more
Copy number gain
See cases
GPathogenic
PTX3, MIR1224
+220 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
LOC126807210, LOC126807211
+1102 more
Copy number gain
See cases
GPathogenic
LOC126807213, LOC126807214
+1068 more
Copy number gain
See cases
GPathogenic
LOC132089068, LOC132089069
+1051 more
Copy number gain
See cases
GPathogenic
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