SOCS3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 60174	GRCh38/hg38 17q25.3(chr17:78338863-78426117)x3	DNAH17, LOC105371912 +17 more	Copy number gain	See cases	GUncertain significance
Select item 3167400	NM_003955.5(SOCS3):c.632C>T (p.Pro211Leu)	SOCS3 (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514300	NM_003955.5(SOCS3):c.622A>T (p.Thr208Ser)	SOCS3 (T208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600153	NM_003955.5(SOCS3):c.611A>G (p.Tyr204Cys)	SOCS3 (Y204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167399	NM_003955.5(SOCS3):c.442C>T (p.Pro148Ser)	SOCS3 (P148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543364	NM_003955.5(SOCS3):c.431C>T (p.Ser144Phe)	SOCS3 (S144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480120	NM_003955.5(SOCS3):c.421A>G (p.Thr141Ala)	SOCS3 (T141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686332	NM_003955.5(SOCS3):c.408C>A (p.Phe136Leu)	SOCS3 (F136L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3321395	NM_003955.5(SOCS3):c.338C>T (p.Pro113Leu)	SOCS3 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321398	NM_003955.5(SOCS3):c.323C>T (p.Pro108Leu)	SOCS3 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321396	NM_003955.5(SOCS3):c.148G>A (p.Ala50Thr)	SOCS3 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315483	NM_003955.5(SOCS3):c.128A>G (p.Glu43Gly)	SOCS3 (E43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348931	NM_003955.5(SOCS3):c.125A>G (p.Gln42Arg)	SOCS3 (Q42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321397	NM_003955.5(SOCS3):c.109G>A (p.Ala37Thr)	SOCS3 (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374348	NM_003955.5(SOCS3):c.77G>A (p.Ser26Asn)	SOCS3 (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 30