"Invitae"[submitter] AND "SOCS1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135275	NM_003745.2(SOCS1):c.630G>C (p.Gln210His)	RMI2, SOCS1 (Q210H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721574	NM_003745.2(SOCS1):c.564C>T (p.Arg188=)	LOC130058478, SOCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2167404	NM_003745.2(SOCS1):c.463G>A (p.Val155Met)	SOCS1 (V155M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	PRM3, TEKT5 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance

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