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Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC106799843, LOC106865369
+388 more
Copy number gain
See cases
GPathogenic
LOC106783508, LOC106799843
+271 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
KRTAP5-6, KRTAP5-AS1
+129 more
Copy number loss
See cases
GPathogenic
ASCL2, C11orf21
+115 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+83 more
Copy number loss
See cases
GUncertain significance
ASCL2, C11orf21
+52 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+32 more
Copy number gain
See cases
GUncertain significance
ASCL2, C11orf21
+28 more
Copy number gain
See cases
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
Gnot provided
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
INS-related condition
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+8 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Dominant/Recessive
+5 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(C109F)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
(Y108del)
Microsatellite
(inframe_deletion +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(Y108C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GLikely risk allele
INS, INS-IGF2
(Y108D)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
(E106del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
INS, INS-IGF2
(E106V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS, INS-IGF2
(Y103C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
INS-IGF2, INS
(S101C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GLikely risk allele
INS, INS-IGF2
(C100Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS, INS-IGF2
(S98I)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
(S98C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance/Uncertain risk allele
INS, INS-IGF2
(T97S)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(T97P)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
INS, INS-IGF2
(C96S)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
Gnot provided
INS, INS-IGF2
(C96Y)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(C96R)
Single nucleotide variant
(missense variant +1 more)
Type 1 diabetes mellitus 2
GLikely risk allele
INS, INS-IGF2
(C95Y)
Single nucleotide variant
(missense variant +1 more)
INS-related condition
GLikely pathogenic
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
INS-related condition
GLikely benign
INS, INS-IGF2
(E93G)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(E93K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS, INS-IGF2
(V92L)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(I91T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS, INS-IGF2
(G90C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(R89P)
Single nucleotide variant
(missense variant +1 more)
Hyperproinsulinemia
GPathogenic
INS-IGF2, INS
(R89L)
Single nucleotide variant
(missense variant +1 more)
Hyperproinsulinemia
GPathogenic
INS, INS-IGF2
(R89H)
Single nucleotide variant
(missense variant +1 more)
INS-related condition
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(R89C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
+3 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(G84R)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INS, INS-IGF2
(S76N)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(G75D)
Single nucleotide variant
(missense variant +1 more)
INS-related condition
GLikely benign
INS, INS-IGF2
(G71A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
INS, INS-IGF2
(G69D)
Single nucleotide variant
(missense variant +1 more)
INS-related condition
GUncertain significance
INS, INS-IGF2
(L68M)
Single nucleotide variant
(missense variant +1 more)
INS-related condition
+2 more
GUncertain significance
INS, INS-IGF2
(Q65R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Microsatellite
(intron variant)
not provided
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Type 1 diabetes mellitus 2
+8 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Hyperproinsulinemia
+7 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
INS-related condition
+1 more
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely risk allele
INS, INS-IGF2
Single nucleotide variant
(intron variant)
INS-related condition
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
INS-related condition
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
INS-IGF2, INS
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GBenign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Neonatal insulin-dependent diabetes mellitus
+1 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
INS-related condition
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Neonatal insulin-dependent diabetes mellitus
GBenign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Dominant/Recessive
+1 more
GUncertain significance
INS, INS-IGF2
+1 more
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Dominant/Recessive
+8 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
INS-related condition
GLikely benign
INS, INS-IGF2
Deletion
Permanent neonatal diabetes mellitus
Gnot provided
INS, INS-IGF2
(E59fs)
Deletion
(frameshift variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
(R55C)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
+2 more
GPathogenic/Likely pathogenic/Likely risk allele
INS, INS-IGF2
(P52R)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
(P52H)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GUncertain significance
INS, INS-IGF2
(P52L)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GPathogenic
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GUncertain significance
INS, INS-IGF2
(F49L)
Single nucleotide variant
(missense variant +1 more)
Hyperproinsulinemia
GPathogenic
INS, INS-IGF2
(F49L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
INS, INS-IGF2
Deletion
(inframe_deletion +1 more)
Neonatal insulin-dependent diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(F48C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
+1 more
GLikely pathogenic/Likely risk allele
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