Related gene-specific medical variations for Gene (Select 6659) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167791	NM_003107.3(SOX4):c.956G>A (p.Ser319Asn)	LOC129995966, SOX4 (S319N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065751	NM_003107.3(SOX4):c.1173_1184del (p.Gly393_Ser396del)	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GUncertain significance
Select item 3031378	NM_003107.3(SOX4):c.780_781del (p.Tyr260_Lys261delinsTer)	SOX4, LOC129995965	Deletion (nonsense)	SOX4-related disorder	GLikely pathogenic
Select item 2664011	NM_003107.3(SOX4):c.373_378del (p.Asp125_Tyr126del)	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GLikely pathogenic
Select item 2662331	NM_003107.3(SOX4):c.851C>G (p.Pro284Arg)	LOC129995965, SOX4 (P284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656276	NM_003107.3(SOX4):c.801C>T (p.Ala267=)	LOC129995965, SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631362	NM_003107.3(SOX4):c.851C>T (p.Pro284Leu)	LOC129995965, SOX4 (P284L)	Single nucleotide variant (missense variant)	SOX4-related disorder	GUncertain significance
Select item 2605621	NM_003107.3(SOX4):c.821C>T (p.Ala274Val)	LOC129995965, SOX4 (A274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584654	NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)	SOX4 (S386F)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2583138	NM_003107.3(SOX4):c.965delinsAGGG (p.Leu322delinsGlnGly)	LOC129995966, SOX4	Indel (inframe_indel)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2580163	NM_003107.3(SOX4):c.281G>A (p.Gly94Asp)	SOX4 (G94D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GLikely pathogenic
Select item 2559205	NM_003107.3(SOX4):c.866C>T (p.Ala289Val)	LOC129995965, SOX4 (A289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534632	NM_003107.3(SOX4):c.796A>G (p.Ser266Gly)	LOC129995965, SOX4 (S266G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504759	NM_003107.3(SOX4):c.967G>A (p.Gly323Ser)	LOC129995966, SOX4 (G323S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436258	NM_003107.3(SOX4):c.618_626del (p.204AGG[1])	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2430332	NM_003107.3(SOX4):c.817_834dup (p.Ser278_Ala279insSerAlaAlaSerAlaSer)	LOC129995965, SOX4	Duplication (inframe_insertion)	See cases	GUncertain significance
Select item 2321414	NM_003107.3(SOX4):c.943G>A (p.Gly315Arg)	LOC129995966, SOX4 (G315R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711620	NM_003107.3(SOX4):c.947C>T (p.Ala316Val)	SOX4, LOC129995966 (A316V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1341908	NM_003107.3(SOX4):c.149G>C (p.Ser50Thr)	SOX4 (S50T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1334620	NM_003107.3(SOX4):c.782A>C (p.Lys261Thr)	LOC129995965, SOX4 (K261T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319164	NM_003107.3(SOX4):c.700G>C (p.Ala234Pro)	SOX4 (A234P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199405	NM_003107.3(SOX4):c.824C>T (p.Ala275Val)	LOC129995965, SOX4 (A275V)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 996845	NM_003107.3(SOX4):c.322_323insA (p.Phe108fs)	SOX4 (F108fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 755406	NM_003107.3(SOX4):c.810C>G (p.Ser270=)	LOC129995965, SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 442434	GRCh37/hg19 6p22.3(chr6:21288478-22264251)x3	SOX4	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 25