U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
H1-1, H1-2
+30 more
Copy number gain
See cases
GLikely benign
H1-1, H1-2
+85 more
Copy number gain
See cases
GLikely benign
H4C3
(G3A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
H4C3-related disorder
GLikely benign
H4C3
(G5C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
H4C3-related disorder
GLikely benign
H4C3
(G8A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
H4C3
(G10fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
H4C3
(G12W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
H4C3-related disorder
GBenign
H4C3
(G29D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H4C3
(P33R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
H4C3
(P33L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
H4C3
(I35T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
H4C3
(K45*)
Single nucleotide variant
(nonsense)
Tessadori-van Haaften neurodevelopmental syndrome 1
GUncertain significance
H4C3
(R46S)
Single nucleotide variant
(missense variant)
not specified
GLikely pathogenic
H4C3
Single nucleotide variant
(synonymous variant)
H4C3-related disorder
GLikely benign
H4C3
(T55A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
H4C3
(G57S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
H4C3-related disorder
GBenign
H4C3
(F62L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
H4C3
(T74K)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GUncertain significance
H4C3
(V87A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
H4C3
(A90S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
H4C3
Single nucleotide variant
(synonymous variant)
H4C3-related disorder
GLikely benign
H4C3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
H4C3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
H4C3
(K92E)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GPathogenic
H4C3
(K92Q)
Single nucleotide variant
(missense variant)
HIST1H4C-associated disorder
GPathogenic
H4C3
(K92R)
Single nucleotide variant
(missense variant)
Tessadori-van Haaften neurodevelopmental syndrome 1
GLikely pathogenic
H4C3
(Y99fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
H4C3
(Y99*)
Single nucleotide variant
(nonsense)
H4C3-related disorder
GLikely pathogenic
H4C3
(G102D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACOT13, ALDH5A1
+38 more
Copy number loss
not provided
GLikely pathogenic
BTN2A1, BTN2A2
+42 more
Copy number gain
not specified
GUncertain significance
H1-1, H1-2
+14 more
Copy number loss
not provided
GPathogenic
H2BC5, H2BC6
+19 more
Copy number gain
not provided
GUncertain significance
H2BC7, H2BC8
+34 more
Copy number gain
not provided
GUncertain significance
H1-3, H1-4
+24 more
Copy number gain
not provided
GUncertain significance
H1-4, H1-6
+11 more
Copy number loss
not provided
GUncertain significance
H1-1, H1-2
+33 more
Copy number gain
not provided
GUncertain significance
H1-1, H1-2
+34 more
Copy number gain
not provided
GUncertain significance
H1-1, H1-2
+36 more
Copy number gain
not provided
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
H3C4, H3C6
+24 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
H4C3
(A77G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination