C5399825[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380853	NM_003975.4(SH2D2A):c.123+181C>T	NTRK1, SH2D2A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 367870	NM_002351.5(SH2D1A):c.-74T>A	SH2D1A	Single nucleotide variant (5 prime UTR variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GBenign/Likely benign
Select item 367871	NM_002351.5(SH2D1A):c.48C>A (p.Gly16=)	SH2D1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign

Format

Sort by

Choose Destination