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Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
AMHR2, ATF7
+219 more
Copy number gain
See cases
GPathogenic
ANKRD52, APOF
+124 more
Duplication
not specified
GUncertain significance
ERBB3
Single nucleotide variant
not provided
GBenign
ERBB3
Single nucleotide variant
not provided
GBenign
ERBB3
Single nucleotide variant
not provided
GBenign
ERBB3
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
(P30L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ERBB3
(D41N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBB3
(A42T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(M60I)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ERBB3
(L74R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ERBB3
Single nucleotide variant
(intron variant)
Visceral neuropathy, familial
+2 more
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBB3
(L97P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(R103C)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ERBB3
(V104L)
Single nucleotide variant
(missense variant)
Gallbladder carcinoma
+7 more
GLikely pathogenic
ERBB3
(V104M)
Single nucleotide variant
(missense variant)
Transitional cell carcinoma of the bladder
+8 more
GPathogenic/Likely pathogenic
ERBB3
(R132C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ERBB3
(A182S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERBB3
Single nucleotide variant
(stop lost +1 more)
ERBB3-related condition
GUncertain significance
ERBB3
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
(D178N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB3
(T204I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ERBB3
(H217P)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 2
GUncertain significance
ERBB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB3
(C259Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(P262H)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
ERBB3
(H277Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(G284R)
Single nucleotide variant
(missense variant)
Neoplasm of stomach
+1 more
GLikely pathogenic
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
(D297N)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+4 more
GLikely pathogenic
ERBB3
(D297Y)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+4 more
GLikely pathogenic
ERBB3
(D297V)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+4 more
GLikely pathogenic
ERBB3
(G367S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
(W373R)
Single nucleotide variant
(missense variant)
ERBB3-related condition
GUncertain significance
ERBB3
(N385S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ERBB3
(T394K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Single nucleotide variant
(intron variant)
Lethal congenital contracture syndrome 2
GPathogenic
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBB3
(H407Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ERBB3
(I418T)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 2
GLikely pathogenic
ERBB3
(R444*)
Single nucleotide variant
(nonsense)
ERBB3-related condition
GLikely pathogenic
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ERBB3
(Y464H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(R475Q)
Single nucleotide variant
(missense variant)
ERBB3-related condition
GLikely benign
ERBB3
(P489L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBB3
(R490C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Indel
(missense variant)
not provided
GUncertain significance
ERBB3
(G515S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Single nucleotide variant
(synonymous variant)
ERBB3-related condition
GLikely benign
ERBB3
(R525P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
(E555Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBB3
(M559I)
Single nucleotide variant
(missense variant)
ERBB3-related condition
GUncertain significance
ERBB3
(S568W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
Duplication
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
(D628fs)
Deletion
(frameshift variant)
ERBB3-related condition
GLikely pathogenic
ERBB3
Single nucleotide variant
(synonymous variant)
ERBB3-related condition
GLikely benign
ERBB3
Single nucleotide variant
(intron variant)
Visceral neuropathy, familial, 1, autosomal recessive
GPathogenic
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBB3
(G684S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(I703L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ERBB3
(P738A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ERBB3
(K747N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ERBB3
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ERBB3
(T787P)
Single nucleotide variant
(missense variant)
Visceral neuropathy, familial, 1, autosomal recessive
GLikely pathogenic
ERBB3
(L795V)
Single nucleotide variant
(missense variant)
ERBB3-related condition
GBenign
ERBB3
(Q809R)
Single nucleotide variant
(missense variant)
Neoplasm
GLikely pathogenic
ERBB3
Deletion
(intron variant)
not provided
GLikely benign
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ERBB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBB3
(K872M)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 2
GUncertain significance
ERBB3
Single nucleotide variant
(intron variant)
Visceral neuropathy, familial
+2 more
GBenign/Likely benign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB3
Deletion
(intron variant)
not provided
GBenign
ERBB3
Deletion
(intron variant)
not provided
GBenign
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