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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TM4SF20
(W170*)
Single nucleotide variant
(nonsense)
Specific language impairment 5
GUncertain significance
TM4SF20
(S91G)
Single nucleotide variant
(missense variant)
Specific language impairment 5
GUncertain significance
TM4SF20
(I187V)
Single nucleotide variant
(missense variant)
Specific language impairment 5
GLikely benign
COL4A4
Copy number loss
Specific language impairment 5
GPathogenic
TM4SF20
Deletion
Specific language impairment 5
GPathogenic
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