SOCS7[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 3167433	NM_014598.4(SOCS7):c.206A>G (p.Asn69Ser)	SOCS7 (N69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569531	NM_014598.4(SOCS7):c.236T>C (p.Val79Ala)	SOCS7 (V79A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569532	NM_014598.4(SOCS7):c.252G>T (p.Glu84Asp)	SOCS7 (E84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361142	NM_014598.4(SOCS7):c.369G>C (p.Gln123His)	SOCS7 (Q123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615058	NM_014598.4(SOCS7):c.391C>A (p.Gln131Lys)	SOCS7 (Q131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375730	NM_014598.4(SOCS7):c.409G>A (p.Val137Ile)	SOCS7 (V137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321411	NM_014598.4(SOCS7):c.421G>A (p.Gly141Ser)	SOCS7 (G141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167435	NM_014598.4(SOCS7):c.472C>T (p.Pro158Ser)	SOCS7 (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218786	NM_014598.4(SOCS7):c.502G>C (p.Gly168Arg)	SOCS7 (G168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472494	NM_014598.4(SOCS7):c.653C>G (p.Pro218Arg)	SOCS7 (P218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167436	NM_014598.4(SOCS7):c.767C>T (p.Pro256Leu)	SOCS7 (P256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167437	NM_014598.4(SOCS7):c.773C>T (p.Pro258Leu)	SOCS7 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284967	NM_014598.4(SOCS7):c.784C>G (p.Leu262Val)	SOCS7 (L262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530742	NM_014598.4(SOCS7):c.803C>T (p.Pro268Leu)	SOCS7 (P268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167438	NM_014598.4(SOCS7):c.808C>T (p.Arg270Trp)	SOCS7 (R270W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321414	NM_014598.4(SOCS7):c.826A>G (p.Ile276Val)	SOCS7 (I276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647698	NM_014598.4(SOCS7):c.975G>A (p.Ala325=)	SOCS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3167439	NM_014598.4(SOCS7):c.1075A>G (p.Ile359Val)	SOCS7 (I359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597872	NM_014598.4(SOCS7):c.1085G>A (p.Arg362Gln)	SOCS7 (R362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321413	NM_014598.4(SOCS7):c.1138C>G (p.Leu380Val)	SOCS7 (L380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167440	NM_014598.4(SOCS7):c.1186G>A (p.Val396Met)	SOCS7 (V396M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206391	NM_014598.4(SOCS7):c.1261C>T (p.Pro421Ser)	SOCS7 (P421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347467	NM_014598.4(SOCS7):c.1292C>T (p.Ser431Phe)	SOCS7 (S431F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321412	NM_014598.4(SOCS7):c.1336C>T (p.Arg446Trp)	SOCS7 (R446W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167432	NM_014598.4(SOCS7):c.1345T>C (p.Ser449Pro)	SOCS7 (S449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321416	NM_014598.4(SOCS7):c.1531A>G (p.Thr511Ala)	SOCS7 (T511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321417	NM_014598.4(SOCS7):c.1733A>G (p.Asn578Ser)	SOCS7 (N578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319370	NM_014598.4(SOCS7):c.1780G>A (p.Val594Ile)	SOCS7 (V594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167434	NM_014598.4(SOCS7):c.1891G>A (p.Ala631Thr)	SOCS7 (A631T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 973602	GRCh37/hg19 17q12(chr17:36473175-36567469)x3	ARHGAP23, GPR179 +4 more	Copy number gain	Microcephaly +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685895	GRCh37/hg19 17q12(chr17:36353952-36680186)x3	ARHGAP23, GPR179 +2 more	Copy number gain	not provided	GUncertain significance
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 394677	GRCh37/hg19 17q12(chr17:36474601-36552916)x3	GPR179, MRPL45 +1 more	Copy number gain	See cases	GLikely benign

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Items: 38