SOCS2[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 145323	GRCh38/hg38 12q22(chr12:93374113-94267175)x3	CEP83, CRADD +49 more	Copy number gain	See cases	GUncertain significance
Select item 3321392	NM_001270471.2(SOCS2):c.11G>T (p.Arg4Leu)	SOCS2 (R4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321391	NM_001270471.2(SOCS2):c.38G>C (p.Gly13Ala)	SOCS2 (G13A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560016	NM_001270471.2(SOCS2):c.49C>T (p.Arg17Trp)	SOCS2 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224235	NM_001270471.2(SOCS2):c.77C>T (p.Ala26Val)	SOCS2 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321393	NM_001270471.2(SOCS2):c.130G>A (p.Gly44Ser)	SOCS2 (G44S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312666	NM_001270471.2(SOCS2):c.134A>G (p.Gln45Arg)	SOCS2 (Q45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273948	NM_001270471.2(SOCS2):c.379G>A (p.Asp127Asn)	SOCS2 (D127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532442	NM_001270471.2(SOCS2):c.386A>G (p.Tyr129Cys)	SOCS2 (Y129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167397	NM_001270471.2(SOCS2):c.410G>A (p.Arg137Gln)	SOCS2 (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297559	NM_001270471.2(SOCS2):c.470A>G (p.Tyr157Cys)	SOCS2 (Y157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214687	NM_001270471.2(SOCS2):c.473C>A (p.Thr158Lys)	SOCS2 (T158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337262	NM_001270471.2(SOCS2):c.479C>T (p.Ala160Val)	SOCS2 (A160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456849	NM_001270471.2(SOCS2):c.508A>T (p.Thr170Ser)	SOCS2 (T170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167398	NM_001270471.2(SOCS2):c.520T>C (p.Cys174Arg)	SOCS2 (C174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594005	NM_001270471.2(SOCS2):c.526G>A (p.Gly176Ser)	SOCS2 (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232396	NM_001270471.2(SOCS2):c.577G>A (p.Glu193Lys)	SOCS2 (E193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24