ClinVar for Gene (Select 8651) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340478	NM_003745.2(SOCS1):c.147_153dup (p.Asp52fs)	SOCS1 (D52fs)	Microsatellite (frameshift variant)	Autoinflammatory syndrome with immunodeficiency	GLikely pathogenic
Select item 3321390	NM_003745.2(SOCS1):c.482T>C (p.Met161Thr)	SOCS1 (M161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321389	NM_003745.2(SOCS1):c.617C>T (p.Ser206Phe)	LOC130058478, SOCS1 (S206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321388	NM_003745.2(SOCS1):c.116C>T (p.Pro39Leu)	LOC130058479, SOCS1 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321387	NM_003745.2(SOCS1):c.154G>C (p.Asp52His)	SOCS1 (D52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321386	NM_003745.2(SOCS1):c.65G>A (p.Arg22Gln)	LOC130058479, SOCS1 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258008	NM_003745.2(SOCS1):c.374G>C (p.Ser125Thr)	SOCS1 (S125T)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3258007	NM_003745.2(SOCS1):c.391C>T (p.Gln131Ter)	SOCS1 (Q131*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3258006	NM_003745.2(SOCS1):c.413A>G (p.Asp138Gly)	SOCS1 (D138G)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3243332	NC_000016.9:g.(?_10971188)_(11650586_?)del	CIITA, CLEC16A +8 more	Deletion	MHC class II deficiency	GPathogenic
Select item 3239012	NM_003745.2(SOCS1):c.3G>A (p.Met1Ile)	LOC130058479, SOCS1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236586	NM_003745.2(SOCS1):c.70G>A (p.Glu24Lys)	LOC130058479, SOCS1 (E24K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 3167396	NM_003745.2(SOCS1):c.61C>T (p.Arg21Trp)	LOC130058479, SOCS1 (R21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167394	NM_003745.2(SOCS1):c.466G>T (p.Ala156Ser)	SOCS1 (A156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167393	NM_003745.2(SOCS1):c.463G>C (p.Val155Leu)	SOCS1 (V155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167392	NM_003745.2(SOCS1):c.145G>T (p.Ala49Ser)	SOCS1 (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167391	NM_003745.2(SOCS1):c.140C>T (p.Ala47Val)	SOCS1 (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3064716	NM_003745.2(SOCS1):c.108_137del (p.Arg38_Ala47del)	LOC130058479, SOCS1	Deletion (inframe_deletion)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 2687944	NM_003745.2(SOCS1):c.-50-18T>G	LOC130058480, SOCS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2681562	NM_003745.2(SOCS1):c.599T>C (p.Leu200Pro)	SOCS1, LOC130058478 (L200P)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2671890	NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter)	SOCS1 (Y154*)	Single nucleotide variant (nonsense)	Malignant lymphoma, large B-cell, diffuse +1 more	GPathogenic OUncertain significance
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 2646213	NM_003745.2(SOCS1):c.150C>T (p.Pro50=)	SOCS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646212	NM_003745.2(SOCS1):c.210C>T (p.Ala70=)	SOCS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646211	NM_003745.2(SOCS1):c.433G>C (p.Asp145His)	SOCS1 (D145H)	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 disorder	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	GLikely pathogenic
Select item 2498651	NM_003745.2(SOCS1):c.100G>A (p.Ala34Thr)	LOC130058479, SOCS1 (A34T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491505	NM_003745.2(SOCS1):c.488G>C (p.Gly163Ala)	SOCS1 (G163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474838	NM_003745.2(SOCS1):c.439C>T (p.Leu147Phe)	SOCS1 (L147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431403	NM_003745.2(SOCS1):c.281G>T (p.Arg94Leu)	SOCS1 (R94L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome with immunodeficiency	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 2410155	NM_003745.2(SOCS1):c.155A>C (p.Asp52Ala)	SOCS1 (D52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405945	NM_003745.2(SOCS1):c.518C>T (p.Pro173Leu)	SOCS1 (P173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393185	NM_003745.2(SOCS1):c.227C>G (p.Ala76Gly)	SOCS1 (A76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393184	NM_003745.2(SOCS1):c.149C>T (p.Pro50Leu)	SOCS1 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377337	NM_003745.2(SOCS1):c.103G>C (p.Ala35Pro)	LOC130058479, SOCS1 (A35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363974	NM_003745.2(SOCS1):c.421C>G (p.Arg141Gly)	SOCS1 (R141G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339068	NM_003745.2(SOCS1):c.398G>A (p.Gly133Asp)	SOCS1 (G133D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302524	NM_003745.2(SOCS1):c.106C>G (p.Pro36Ala)	LOC130058479, SOCS1 (P36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291911	NM_003745.2(SOCS1):c.262G>A (p.Gly88Arg)	SOCS1 (G88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286692	NM_003745.2(SOCS1):c.570C>G (p.Asn190Lys)	LOC130058478, SOCS1 (N190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250779	NM_003745.2(SOCS1):c.40T>G (p.Ser14Ala)	LOC130058479, SOCS1 (S14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242969	NM_003745.2(SOCS1):c.56C>G (p.Pro19Arg)	LOC130058479, SOCS1 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233264	NM_003745.2(SOCS1):c.56C>T (p.Pro19Leu)	LOC130058479, SOCS1 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205348	NM_003745.2(SOCS1):c.511G>A (p.Val171Met)	SOCS1 (V171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1878286	NM_003745.2(SOCS1):c.139G>A (p.Ala47Thr)	SOCS1 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
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 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	NUBP1, PMM2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1343576	NM_003745.2(SOCS1):c.424G>C (p.Glu142Gln)	SOCS1 (E142Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 1175881	NM_003745.2(SOCS1):c.225C>T (p.Asp75=)	SOCS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1172797	NM_003745.2(SOCS1):c.480_481insGCGGC (p.Met161fs)	SOCS1 (M161fs)	Insertion (frameshift variant)	Autoinflammatory syndrome with immunodeficiency	GPathogenic
Select item 1120219	NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)	SOCS1 (Y64*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome with immunodeficiency	GLikely pathogenic
Select item 1013116	GRCh37/hg19 16p13.13(chr16:11348700-11349387)x1	SOCS1	Copy number loss	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 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 977216	NM_003745.2(SOCS1):c.460T>C (p.Tyr154His)	SOCS1 (Y154H)	Single nucleotide variant (missense variant)	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY +1 more	GPathogenic/Likely pathogenic
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 977214	NM_003745.2(SOCS1):c.476_480dup (p.Met161fs)	SOCS1 (M161fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 977213	NM_003745.2(SOCS1):c.24del (p.Ala9fs)	LOC130058479, SOCS1 (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 977212	NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg)	SOCS1 (P123R)	Single nucleotide variant (missense variant)	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY +1 more	GPathogenic/Likely pathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	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 685913	GRCh37/hg19 16p13.13(chr16:11124777-11387164)x1	CLEC16A, PRM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 432971	NM_003745.2(SOCS1):c.108del (p.Ala37fs)	LOC130058479, SOCS1 (A37fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253820	GRCh37/hg19 16p13.13(chr16:11173868-11681288)x3	PRM2, PRM3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148534	GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3	CIITA, CLEC16A +81 more	Copy number gain	See cases	GLikely benign
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
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 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
Select item 135272	NM_003745.2(SOCS1):c.138GGCCCC[1] (p.47AP[1])	SOCS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 135271	NM_003745.2(SOCS1):c.134_139dup (p.Val45_Pro46dup)	SOCS1	Duplication (inframe_insertion)	not provided	GBenign
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 98