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Links from Gene

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862261, SRRM2
(K190R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126862261, SRRM2
(Q154K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(W1861G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(R796P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(R249G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(P2303L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(T1962I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(Q1002H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(S2426F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(E89V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRRM2
(R1885*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder, autosomal dominant 72
GPathogenic
SRRM2
(Q529*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder, autosomal dominant 72
GLikely pathogenic
SRRM2
(R69*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder, autosomal dominant 72
GLikely pathogenic
LOC126862261, SRRM2
(G140R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126862261, SRRM2
(P170H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862261, SRRM2
(P163L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862261, SRRM2
(R156H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRRM2
Microsatellite
(inframe_insertion)
Intellectual developmental disorder, autosomal dominant 72
GUncertain significance
SRRM2
(P1272del)
Deletion
(inframe_deletion)
Intellectual developmental disorder, autosomal dominant 72
GUncertain significance
SRRM2
(S395fs)
Duplication
(frameshift variant)
Intellectual developmental disorder, autosomal dominant 72
GLikely pathogenic
LOC126862261, SRRM2
(Q114fs)
Duplication
(frameshift variant)
SRRM2-related disorder
GLikely pathogenic
LOC126862261, SRRM2
(S150F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862261, SRRM2
(P167A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862261, SRRM2
(G106E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862261, SRRM2
(V146I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRRM2
(S1069C)
Single nucleotide variant
(missense variant)
SRRM2-related Neurodevelopmental disorder
GUncertain significance
LOC126862261, SRRM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126862261, SRRM2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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