U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK40
(S85R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHDC9, LOC129931750
(S80R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
URB2
(S80R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC138, RANBP2
(S80R +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
BUB1
(S80R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VHL
(S80R)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S80R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
MLH1
(S80R +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
GUncertain significance
LAMB2
(S80R)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
GLikely pathogenic
RFT1
(S80R)
Single nucleotide variant
(missense variant)
RFT1-congenital disorder of glycosylation
GUncertain significance
IFT122
(S132R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SERPINI1
(S80R)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SLC9A3
(S80R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SRA1
(S80R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PRKAG2
(S124R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
SFTPC
(S133R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
RBP3
(S80R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
CHAT
(S44R +2 more)
Single nucleotide variant
(missense variant)
Familial infantile myasthenia
GUncertain significance
ALDH3B2
(S80R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC83
(S80R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SP7
(S80R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLE
(S80R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPATA33
(S80R +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PITPNM3
(S116R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITPNM3
(S116R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
BRCA1
(S104R +11 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(S127R +5 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GUncertain significance
BRCA1
(S33R +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(S33R +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
Gnot provided
BRCA1
(S80R +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MILR1, POLG2
(S80R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AATK
(S183R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAUS8
(S79R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAG
(S80R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITPA
(S121R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inosine triphosphatase deficiency
GUncertain significance
HNF4A
(S62R +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
Format
Items per page
Sort by
Choose Destination