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Items: 1 to 100 of 549

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GBenign
CHD4
(Q1896* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CHD4
(T1894I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
(A1893V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHD4
(R1889W +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
(R1889G +2 more)
Single nucleotide variant
(missense variant)
CHD4-related disorder
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
(R1880H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(R1880L +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
(P1870S +2 more)
Single nucleotide variant
(missense variant)
Moyamoya angiopathy with developmental delay
GLikely pathogenic
CHD4
(A1869T +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHD4
(T1867A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHD4
Single nucleotide variant
(intron variant)
CHD4-related disorder
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CHD4
(A1837V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
Sifrim-Hitz-Weiss syndrome
+1 more
GBenign/Likely benign
CHD4
(S1825C +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
+1 more
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHD4
(E1813D +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHD4
(P1800L +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
(D1799E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(Y1793C +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
CHD4-related disorder
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
CHD4
Single nucleotide variant
(synonymous variant)
CHD4-related disorder
GLikely benign
CHD4
(N1755S +2 more)
Single nucleotide variant
(missense variant)
CHD4-related disorder
+1 more
GConflicting classifications of pathogenicity
CHD4
(A1748V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(Y1747C +2 more)
Single nucleotide variant
(missense variant)
CHD4-related disorder
GUncertain significance
CHD4
(H1737Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
(I1730V +2 more)
Single nucleotide variant
(missense variant)
Moyamoya angiopathy with developmental delay
GLikely pathogenic
CHD4
Single nucleotide variant
(synonymous variant)
CHD4-related disorder
+1 more
GBenign/Likely benign
CHD4
(R1720Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CHD4
(T1709I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(A1711V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GBenign
CHD4
Single nucleotide variant
(intron variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
(G1692D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(R1684H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(D1671H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHD4
(D1671N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(K1681R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(E1657del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
CHD4
(E1657Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
CHD4
Single nucleotide variant
(intron variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
Single nucleotide variant
(synonymous variant)
Neurodevelopmental abnormality
GLikely benign
CHD4
(K1660R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(I1648V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(P1654T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHD4
(D1640H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(S1648L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CHD4
(E1634K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
(G1626D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
Single nucleotide variant
(intron variant)
not provided
GBenign
CHD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHD4
(G1624D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely pathogenic
CHD4
(K1623E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(E1634D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(M1618V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHD4
(E1615fs +2 more)
Microsatellite
(frameshift variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
(E1618K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHD4
(P1599S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(P1598L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(V1608I +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GConflicting classifications of pathogenicity
CHD4
(D1591N +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
CHD4
(A1588S +2 more)
Single nucleotide variant
(missense variant)
CHD4-related disorder
GUncertain significance
CHD4
(A1599V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CHD4
(C1587R +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
+1 more
GUncertain significance
CHD4
Deletion
(intron variant)
CHD4-related disorder
GLikely benign
CHD4
(E1576K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHD4
(P1581S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHD4
(T1573A +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
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