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Items: 1 to 100 of 147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932646, LOC129932647
+967 more
Copy number gain
See cases
GPathogenic
LOC129932948, LOC129932949
+954 more
Copy number gain
See cases
GPathogenic
LOC129932666, LOC129932667
+954 more
Copy number gain
See cases
GPathogenic
LOC128772241, LOC128772242
+952 more
Copy number gain
See cases
GPathogenic
SCCPDH, SDCCAG8
+951 more
Copy number gain
See cases
GPathogenic
LOC129932613, LOC129932614
+949 more
Copy number gain
See cases
GPathogenic
LOC129932859, LOC129932860
+869 more
Copy number gain
See cases
GPathogenic
LOC129932775, LOC129932776
+655 more
Copy number gain
See cases
GPathogenic
ACTN2, AGT
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC129932908, LOC129932909
+270 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
LOC110121264, LOC110121265
+301 more
Copy number loss
See cases
GPathogenic
CHRM3, CHRM3-AS1
+11 more
Copy number loss
See cases
GUncertain significance
ADSS2, AHCTF1
+282 more
Copy number loss
See cases
GPathogenic
AKT3, AKT3-IT1
+55 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+278 more
Copy number loss
See cases
GPathogenic
CHRM3, CHRM3-AS1
+13 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+277 more
Copy number loss
See cases
GPathogenic
BECN2, CHML
+35 more
Copy number loss
See cases
GPathogenic
CHRM3
Single nucleotide variant
(intron variant)
Prune belly syndrome
GUncertain significance
CHRM3
Duplication
Gestational diabetes mellitus uncontrolled
Gnot provided
OR2G3, OR2G6
+276 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
BECN2, CHML
+35 more
Copy number gain
See cases
GUncertain significance
CHRM3, CHRM3-AS1
Copy number loss
See cases
GUncertain significance
CHRM3
Single nucleotide variant
(intron variant)
not provided
GBenign
SNORA100, SPMIP3
+274 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(S10L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
(P31R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(N41D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
(R44Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CHRM3
Single nucleotide variant
(synonymous variant)
CHRM3-related disorder
+1 more
GLikely benign
CHRM3
(V65I)
Single nucleotide variant
(missense variant)
not provided
GBenign
CHRM3
(A72T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
(V95I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CHRM3
(G118R)
Single nucleotide variant
(missense variant)
Prune belly syndrome
GPathogenic
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(F197L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
Prune belly syndrome
+1 more
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(E325K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
(N339K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRM3
(N340del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CHRM3
(D353N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(T361M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(N379T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
Prune belly syndrome
+1 more
GLikely benign
CHRM3
(S386L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHRM3
(P392fs)
Indel
(frameshift variant)
Prune belly syndrome
GPathogenic
CHRM3
(L396M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHRM3
(L401M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(D406N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CHRM3
(V414M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(L427del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CHRM3
(Q430R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
(L431P)
Single nucleotide variant
(missense variant)
not provided
GBenign
CHRM3
(V435M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CHRM3
(V443I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHRM3
(N444T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CHRM3
(T451M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(R478W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(T524I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(R569C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
(A585T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRM3
(A589D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CHRM3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CHRM3
Duplication
(3 prime UTR variant)
not provided
GBenign
CHRM3
Duplication
(3 prime UTR variant)
not provided
GBenign
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