U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 298

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
ADAMTS3, AFM
+121 more
Copy number loss
See cases
GLikely pathogenic
BTC, CABS1
+330 more
Deletion
See cases
GPathogenic
LOC129992695, LOC129992696
+533 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ABRAXAS1, ADAMTS3
+331 more
Copy number gain
See cases
GPathogenic
ANKRD17, COX18
+2 more
Copy number gain
See cases
GLikely benign
ANKRD17, COX18
+2 more
Copy number gain
See cases
GUncertain significance
ANKRD17, COX18
+2 more
Copy number gain
See cases
GBenign
ANKRD17
(Q2488H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(N2349S +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(V2346A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(H2342R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(P2338A +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GLikely benign
ANKRD17
(P2476T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(Q2332E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(P2331T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
Single nucleotide variant
(synonymous variant)
Lip and oral cavity carcinoma
Gassociation
ANKRD17
(T2326P +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
+1 more
GUncertain significance
ANKRD17
(M2459T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(I2304T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(R2251* +3 more)
Single nucleotide variant
(nonsense)
Chopra-Amiel-Gordon syndrome
GPathogenic
ANKRD17
(D2377E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(M2232fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(H2234P +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(D2219G +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ANKRD17
(N2467S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(I2464F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(T2339A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
Single nucleotide variant
(synonymous variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(Q2186H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(R2183G +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(N2303S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANKRD17
(V2156I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ANKRD17
(A2152T +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(S2141L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ANKRD17
(A2139T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(N2135S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(P2241L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S2096L +3 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ANKRD17
(G2089E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(H2337Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(D2075N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD17
(M2212T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ANKRD17
(V2210I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
Single nucleotide variant
(splice donor variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(S2067G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD17
(M2282V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S2169C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(P2280T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S2263F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(P2011S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(S2004R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(P1989R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(A2200T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S2191L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S2079P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ANKRD17
(P1937S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(A1936P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(T2151A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(P1887L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(P1880L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ANKRD17
(P1879A +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANKRD17
(P1879S +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(S1875C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ANKRD17
(S1988G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(S1844N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(P2092L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S1816C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(S1814A +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(V1804A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(G1803R +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
ANKRD17
(G1802E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(Q1800R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(P1773L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(T1728A +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(S1861G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(T1720A +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(K1691N +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(K1691Q +3 more)
Single nucleotide variant
(missense variant)
ANKRD17-related disorder
GUncertain significance
ANKRD17
(P1690R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(T1672I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(A1669fs +3 more)
Duplication
(frameshift variant)
Intellectual disability
GLikely pathogenic
ANKRD17
(R1656M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(R1656G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD17
(S1629P +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GLikely pathogenic
ANKRD17
(P1624L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(K1613R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(H1612Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(H1612L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(S1858C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
(A1851V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(V1839I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANKRD17
(A1571del +3 more)
Deletion
not provided
GUncertain significance
ANKRD17
(Q1536fs +3 more)
Deletion
(frameshift variant)
Chopra-Amiel-Gordon syndrome
+1 more
GPathogenic
ANKRD17
(G1526S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKRD17
Duplication
(intron variant)
not specified
GLikely benign
ANKRD17
(R1461H +3 more)
Single nucleotide variant
(missense variant)
Chopra-Amiel-Gordon syndrome
GUncertain significance
Format
Items per page
Sort by
Choose Destination