U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from OMIM

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOC2
Indel
(missense variant +2 more)
Noonan syndrome-like disorder with loose anagen hair 1
GPathogenic
TBC1D7-LOC100130357, LOC100130357
+1 more
(R521C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPP1R15B
(R658C)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and impaired glucose metabolism 2
GPathogenic
SHOC2
(M173I)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
Format
Sort by
Choose Destination