Related gene-specific medical variations for Gene (Select 8651) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068305	NM_003745.2(SOCS1):c.454G>T (p.Glu152Ter)	SOCS1 (E152*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome with immunodeficiency	GLikely pathogenic
Select item 2687944	NM_003745.2(SOCS1):c.-50-18T>G	SOCS1, LOC130058480	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2646214	NM_003745.2(SOCS1):c.80C>T (p.Ser27Phe)	LOC130058479, SOCS1 (S27F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646210	NM_003745.2(SOCS1):c.597C>T (p.Val199=)	LOC130058478, SOCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2628904	NM_003745.2(SOCS1):c.46G>C (p.Ala16Pro)	LOC130058479, SOCS1 (A16P)	Single nucleotide variant (missense variant)	SOCS1-related condition	GUncertain significance
Select item 2627601	NM_003745.2(SOCS1):c.560G>A (p.Gly187Asp)	LOC130058478, SOCS1 (G187D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 2498651	NM_003745.2(SOCS1):c.100G>A (p.Ala34Thr)	SOCS1, LOC130058479 (A34T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377337	NM_003745.2(SOCS1):c.103G>C (p.Ala35Pro)	LOC130058479, SOCS1 (A35P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302524	NM_003745.2(SOCS1):c.106C>G (p.Pro36Ala)	LOC130058479, SOCS1 (P36A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286692	NM_003745.2(SOCS1):c.570C>G (p.Asn190Lys)	LOC130058478, SOCS1 (N190K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250779	NM_003745.2(SOCS1):c.40T>G (p.Ser14Ala)	LOC130058479, SOCS1 (S14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242969	NM_003745.2(SOCS1):c.56C>G (p.Pro19Arg)	LOC130058479, SOCS1 (P19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233264	NM_003745.2(SOCS1):c.56C>T (p.Pro19Leu)	LOC130058479, SOCS1 (P19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702823	NM_003745.2(SOCS1):c.577C>T (p.Arg193Cys)	LOC130058478, SOCS1 (R193C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175882	NM_003745.2(SOCS1):c.95C>A (p.Ser32Ter)	LOC130058479, SOCS1 (S32*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 986741	NC_000016.10:g.166600T[(13_19)]	SOCS1	Microsatellite	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 986740	NC_000016.10:g.166573TTTTC[(3_5)]	SOCS1	Microsatellite	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 977215	NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp)	LOC130058479, SOCS1 (R22W)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +1 more	GPathogenic/Likely pathogenic
Select item 977213	NM_003745.2(SOCS1):c.24del (p.Ala9fs)	LOC130058479, SOCS1 (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 801327	NC_000016.10:g.11254001T>C	SOCS1	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 801021	Multiple alleles	SOCS1	Single nucleotide variant	Rheumatoid arthritis	GAffects
Select item 721574	NM_003745.2(SOCS1):c.564C>T (p.Arg188=)	LOC130058478, SOCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 432971	NM_003745.2(SOCS1):c.108del (p.Ala37fs)	LOC130058479, SOCS1 (A37fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 135274	NM_003745.2(SOCS1):c.398G>C (p.Gly133Ala)	SOCS1 (G133A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135273	NM_003745.2(SOCS1):c.16C>G (p.Gln6Glu)	LOC130058479, SOCS1 (Q6E)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 25