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Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+307 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
FBLN2, HDAC11
+23 more
Copy number gain
See cases
GUncertain significance
HDAC11, LOC126806611
+244 more
Deletion
3p- syndrome
GPathogenic
WNT7A
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
WNT7A
(Y346H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
(T343M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
WNT7A
(K327N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
(Y313H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT7A
(M307L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
WNT7A-related disorder
GLikely benign
WNT7A
(N295S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
(R292C)
Single nucleotide variant
(missense variant)
Schinzel phocomelia syndrome
GLikely pathogenic
WNT7A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
WNT7A
(N276I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
(P275S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
(S274W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
(I271V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
(R245C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT7A
(R222Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT7A
(R222W)
Single nucleotide variant
(missense variant)
Schinzel phocomelia syndrome
GPathogenic
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
WNT7A
(G204S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
WNT7A
(I191T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126806608, WNT7A
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126806608, WNT7A
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126806608, WNT7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806608, WNT7A
(E186K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126806608, WNT7A
(A163T)
Single nucleotide variant
(missense variant)
Bladder exstrophy-epispadias-cloacal extrophy complex
GUncertain significance
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126806608, WNT7A
(R157H)
Single nucleotide variant
(missense variant)
Fuhrmann syndrome
+1 more
GConflicting classifications of pathogenicity
LOC126806608, WNT7A
(R157C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
WNT7A-related disorder
GLikely benign
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
WNT7A-related disorder
GLikely benign
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC126806608, WNT7A
(D130E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126806608, WNT7A
(T124I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126806608, WNT7A
(I111V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126806608, WNT7A
(A109T)
Single nucleotide variant
(missense variant)
Fuhrmann syndrome
GPathogenic
LOC126806608, WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126806608, WNT7A
(R102W)
Single nucleotide variant
(missense variant)
Schinzel phocomelia syndrome
GPathogenic
WNT7A
Duplication
(intron variant)
not provided
GBenign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(intron variant)
Schinzel phocomelia syndrome
+2 more
GBenign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT7A
(R90H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
(R78C)
Single nucleotide variant
(missense variant)
Anophthalmia-microphthalmia syndrome
GLikely benign
WNT7A
(E72K)
Single nucleotide variant
(missense variant)
Schinzel phocomelia syndrome
GPathogenic
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT7A
Single nucleotide variant
(synonymous variant)
WNT7A-related disorder
+1 more
GLikely benign
WNT7A
(A50V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
(R49Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
(R49W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
WNT7A
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT7A
Deletion
(intron variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
WNT7A
(M18I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
Single nucleotide variant
(synonymous variant)
WNT7A-related disorder
+1 more
GLikely benign
WNT7A
(R3Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT7A
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
WNT7A
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
WNT7A
Single nucleotide variant
not provided
GLikely benign
WNT7A
Single nucleotide variant
not provided
GBenign
WNT7A
Single nucleotide variant
not provided
GLikely benign
WNT7A
Single nucleotide variant
not provided
GLikely benign
WNT7A
Single nucleotide variant
not provided
GLikely benign
WNT7A
Single nucleotide variant
not provided
GBenign
WNT7A
Single nucleotide variant
not provided
GLikely benign
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
ANKRD28, BTD
+41 more
Copy number gain
See cases
GPathogenic
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