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Items: 1 to 100 of 218

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
GPathogenic
NELFA, NICOL1
+504 more
Copy number loss
See cases
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
AFAP1, AFAP1-AS1
+633 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+504 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
ABLIM2, ADD1
+461 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+597 more
Copy number loss
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC129992002, LOC129992003
+597 more
Copy number loss
See cases
GPathogenic
LOC101928279, LOC101928306
+346 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+479 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+569 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+536 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+363 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+657 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+313 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+623 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+323 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+327 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+322 more
Copy number loss
See cases
GPathogenic
LOC129991980, LOC129991981
+319 more
Copy number loss
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
NSD2, NSG1
+438 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+618 more
Copy number gain
See cases
GPathogenic
LOC129992049, LOC129992050
+537 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 more
Copy number gain
See cases
GPathogenic
LOC129992176, LOC129992177
+439 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+414 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+500 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+216 more
Copy number loss
See cases
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADRA2C, BLOC1S4
+181 more
Deletion
not provided
GLikely pathogenic
CYTL1, LINC01396
+38 more
Copy number gain
See cases
GUncertain significance
ABLIM2, ACOX3
+365 more
Copy number loss
See cases
GPathogenic
CYTL1, EVC
+29 more
Copy number gain
See cases
GUncertain significance
CYTL1, LINC01396
+13 more
Copy number gain
See cases
GUncertain significance
MSX1
Deletion
not provided
GBenign
MSX1
Single nucleotide variant
not provided
GBenign
MSX1
Single nucleotide variant
not provided
GBenign
LOC129992137, MSX1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC129992137, MSX1
Single nucleotide variant
(5 prime UTR variant)
MSX1-related disorder
GLikely benign
LOC129992137, MSX1
(A20T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
(G22D)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(G26A)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(G28fs)
Duplication
(frameshift variant)
Tooth agenesis, selective, 1
GPathogenic
LOC129992137, MSX1
(A29V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC129992137, MSX1
(G30D)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(G30A)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
LOC129992137, MSX1
(A32T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
(A32S)
Single nucleotide variant
not provided
GUncertain significance
LOC129992137, MSX1
(A32V)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(S34G)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
LOC129992137, MSX1
(S34R)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
LOC129992137, MSX1
(A35T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
(A36T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(A40G)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
+1 more
GBenign
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(M43L)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GBenign
LOC129992137, MSX1
(G44S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
(K51E)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
+1 more
GBenign
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(L66I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
(M67K)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, 1
GPathogenic
LOC129992137, MSX1
(P73L)
Single nucleotide variant
(missense variant)
Orofacial cleft 5
+2 more
GBenign/Likely benign
LOC129992137, MSX1
(A75P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129992137, MSX1
(P82L)
Single nucleotide variant
(missense variant)
MSX1-related disorder
GUncertain significance
LOC129992137, MSX1
(E84*)
Single nucleotide variant
(nonsense)
MSX1-related disorder
GLikely pathogenic
LOC129992137, MSX1
(E84V)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
LOC129992137, MSX1
(Q87R)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GBenign
LOC129992137, MSX1
(Q94*)
Single nucleotide variant
(nonsense)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GPathogenic
LOC129992137, MSX1
(L96P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
(G97S)
Single nucleotide variant
(missense variant)
MSX1-related selective tooth agenesis with or without orofacial cleft
GUncertain significance
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GBenign
LOC129992137, MSX1
(G104R)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
LOC129992137, MSX1
(A108T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
LOC129992137, MSX1
(S111*)
Single nucleotide variant
(nonsense)
Tooth agenesis, selective, 1
GPathogenic
LOC129992137, MSX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MSX1
(G121W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSX1
(G122V)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
MSX1
(G122E)
Single nucleotide variant
(missense variant)
Orofacial cleft 5
GPathogenic
MSX1
(L124H)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
MSX1
(D129V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSX1
(E141K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSX1
Single nucleotide variant
(synonymous variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
MSX1
(P144R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSX1
(M146I)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
MSX1
(P153Q)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GLikely benign
MSX1
(P154L)
Single nucleotide variant
(missense variant)
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
GUncertain significance
MSX1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
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