6659[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 1233664	NM_003107.3(SOX4):c.-565C>A	SOX4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2656265	NM_003107.3(SOX4):c.15C>G (p.Thr5=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575638	NM_003107.3(SOX4):c.28A>G (p.Asn10Asp)	SOX4 (N10D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507376	NM_003107.3(SOX4):c.32C>T (p.Thr11Met)	SOX4 (T11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622078	NM_003107.3(SOX4):c.56G>C (p.Ser19Thr)	SOX4 (S19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053451	NM_003107.3(SOX4):c.63C>A (p.Asp21Glu)	SOX4 (D21E)	Single nucleotide variant (missense variant)	SOX4-related disorder	GLikely benign
Select item 720268	NM_003107.3(SOX4):c.82C>G (p.Leu28Val)	SOX4 (L28V)	Single nucleotide variant (missense variant)	SOX4-related disorder +1 more	GBenign
Select item 2664807	NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)	SOX4 (A31N)	Indel (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2443796	NM_003107.3(SOX4):c.130_133delinsCGCT (p.Gly44_Lys45delinsArgTer)	SOX4	Indel (nonsense)	Coffin-Siris syndrome 10	GPathogenic
Select item 1321976	NM_003107.3(SOX4):c.130G>T (p.Gly44Cys)	SOX4 (G44C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
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 1526184	NM_003107.3(SOX4):c.173A>C (p.His58Pro)	SOX4 (H58P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 635853	NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)	SOX4 (I59S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 987399	NM_003107.3(SOX4):c.182G>A (p.Arg61Gln)	SOX4 (R61Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1285590	NM_003107.3(SOX4):c.193G>A (p.Ala65Thr)	SOX4 (A65T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 548142	NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SOX4 (F66L)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GLikely pathogenic
Select item 747575	NM_003107.3(SOX4):c.213G>A (p.Gln71=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383434	NM_003107.3(SOX4):c.229A>G (p.Ile77Val)	SOX4 (I77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662322	NM_003107.3(SOX4):c.244C>T (p.Pro82Ser)	SOX4 (P82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870826	NM_003107.3(SOX4):c.278T>A (p.Leu93Gln)	SOX4 (L93Q)	Single nucleotide variant (missense variant)	not provided	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 1691155	NM_003107.3(SOX4):c.289T>G (p.Trp97Gly)	SOX4 (W97G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 635854	NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)	SOX4 (K105N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 2442531	NM_003107.3(SOX4):c.325_328del (p.Ile109fs)	SOX4 (I109fs)	Deletion (frameshift variant)	not provided	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 635852	NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)	SOX4 (A112P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 3167781	NM_003107.3(SOX4):c.335C>T (p.Ala112Val)	SOX4 (A112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717854	NM_003107.3(SOX4):c.339G>A (p.Glu113=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2430671	NM_003107.3(SOX4):c.347G>C (p.Arg116Pro)	SOX4 (R116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443346	NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)	SOX4 (A121G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 1810069	NM_003107.3(SOX4):c.372del (p.Asp125fs)	SOX4 (D125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1690506	NM_003107.3(SOX4):c.382T>C (p.Tyr128His)	SOX4 (Y128H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1691217	NM_003107.3(SOX4):c.395A>G (p.Lys132Arg)	SOX4 (K132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656266	NM_003107.3(SOX4):c.396G>A (p.Lys132=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735514	NM_003107.3(SOX4):c.402G>C (p.Val134=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030641	NM_003107.3(SOX4):c.418A>C (p.Asn140His)	SOX4 (N140H)	Single nucleotide variant (missense variant)	SOX4-related disorder	GLikely benign
Select item 3047333	NM_003107.3(SOX4):c.428C>T (p.Ser143Phe)	SOX4 (S143F)	Single nucleotide variant (missense variant)	SOX4-related disorder	GUncertain significance
Select item 2569548	NM_003107.3(SOX4):c.433G>A (p.Ala145Thr)	SOX4 (A145T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 873506	NM_003107.3(SOX4):c.466G>C (p.Asp156His)	SOX4 (D156H)	Single nucleotide variant (missense variant)	SOX4-related neurodevelopmental disorder	GUncertain significance
Select item 3167782	NM_003107.3(SOX4):c.475G>A (p.Gly159Ser)	SOX4 (G159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712534	NM_003107.3(SOX4):c.486C>T (p.Gly162=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GBenign/Likely benign
Select item 2656267	NM_003107.3(SOX4):c.496_507del (p.His166_Gly169del)	SOX4	Deletion (inframe_deletion)	SOX4-related disorder +1 more	GBenign/Likely benign
Select item 1341848	NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla)	SOX4	Insertion (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044064	NM_003107.3(SOX4):c.499_500insC (p.Gly167fs)	SOX4 (G167fs)	Insertion (frameshift variant)	SOX4-related disorder	GLikely benign
Select item 3044460	NM_003107.3(SOX4):c.502_503insCG (p.Gly168fs)	SOX4 (G168fs)	Insertion (frameshift variant)	SOX4-related disorder	GLikely benign
Select item 2656268	NM_003107.3(SOX4):c.501G>C (p.Gly167=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781863	NM_003107.3(SOX4):c.504CGG[6] (p.Gly173dup)	SOX4	Microsatellite (inframe_insertion)	SOX4-related disorder +1 more	GBenign
Select item 3167783	NM_003107.3(SOX4):c.502G>A (p.Gly168Ser)	SOX4 (G168S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037648	NM_003107.3(SOX4):c.504C>G (p.Gly168=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder	GLikely benign
Select item 2656270	NM_003107.3(SOX4):c.531G>C (p.Ala177=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GLikely benign
Select item 2656269	NM_003107.3(SOX4):c.531G>A (p.Ala177=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GBenign/Likely benign
Select item 2512539	NM_003107.3(SOX4):c.533G>C (p.Gly178Ala)	SOX4 (G178A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167785	NM_003107.3(SOX4):c.555T>A (p.Ser185Arg)	SOX4 (S185R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025613	NM_003107.3(SOX4):c.579G>C (p.Pro193=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656271	NM_003107.3(SOX4):c.582G>T (p.Ala194=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3167786	NM_003107.3(SOX4):c.611C>T (p.Ala204Val)	SOX4 (A204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167787	NM_003107.3(SOX4):c.623G>T (p.Gly208Val)	SOX4 (G208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379413	NM_003107.3(SOX4):c.640C>T (p.Pro214Ser)	SOX4 (P214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500444	NM_003107.3(SOX4):c.649A>C (p.Lys217Gln)	SOX4 (K217Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656272	NM_003107.3(SOX4):c.666CGG[6] (p.Gly227_Lys228insGly)	SOX4	Microsatellite (inframe_insertion)	SOX4-related disorder +1 more	GLikely benign
Select item 2656273	NM_003107.3(SOX4):c.666CGG[4] (p.Gly227del)	SOX4 (G227del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1695150	NM_003107.3(SOX4):c.666C>A (p.Gly222=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397661	NM_003107.3(SOX4):c.676G>A (p.Gly226Ser)	SOX4 (G226S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534628	NM_003107.3(SOX4):c.685G>A (p.Ala229Thr)	SOX4 (A229T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747015	NM_003107.3(SOX4):c.687A>G (p.Ala229=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591272	NM_003107.3(SOX4):c.689C>T (p.Ala230Val)	SOX4 (A230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 931190	NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del)	SOX4	Deletion (inframe_deletion)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2534629	NM_003107.3(SOX4):c.697G>T (p.Ala233Ser)	SOX4 (A233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534630	NM_003107.3(SOX4):c.700G>T (p.Ala234Ser)	SOX4 (A234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2614434	NM_003107.3(SOX4):c.709T>C (p.Phe237Leu)	SOX4 (F237L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656274	NM_003107.3(SOX4):c.710T>C (p.Phe237Ser)	SOX4 (F237S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2534631	NM_003107.3(SOX4):c.711C>A (p.Phe237Leu)	SOX4 (F237L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167789	NM_003107.3(SOX4):c.730G>T (p.Ala244Ser)	SOX4 (A244S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386532	NM_003107.3(SOX4):c.730G>A (p.Ala244Thr)	SOX4 (A244T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064516	NM_003107.3(SOX4):c.739_762del (p.Leu247_Ala254del)	SOX4	Deletion (inframe_deletion)	Intellectual disability	GUncertain significance
Select item 2506634	NM_003107.3(SOX4):c.741_748dup (p.Leu250fs)	SOX4 (L250fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2656275	NM_003107.3(SOX4):c.744G>C (p.Leu248=)	SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029670	NM_003107.3(SOX4):c.746C>A (p.Pro249His)	SOX4 (P249H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10	GUncertain significance
Select item 2351521	NM_003107.3(SOX4):c.758C>G (p.Ala253Gly)	SOX4 (A253G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335616	NM_003107.3(SOX4):c.758C>T (p.Ala253Val)	SOX4 (A253V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502664	NM_003107.3(SOX4):c.763G>T (p.Asp255Tyr)	SOX4 (D255Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446081	NM_003107.3(SOX4):c.776del (p.Leu259fs)	SOX4 (L259fs)	Deletion (frameshift variant)	not provided	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 1334620	NM_003107.3(SOX4):c.782A>C (p.Lys261Thr)	LOC129995965, SOX4 (K261T)	Single nucleotide variant (missense variant)	not provided	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 2656276	NM_003107.3(SOX4):c.801C>T (p.Ala267=)	LOC129995965, SOX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430332	NM_003107.3(SOX4):c.817_834dup (p.Ser278_Ala279insSerAlaAlaSerAlaSer)	LOC129995965, SOX4	Duplication (inframe_insertion)	See cases	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 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 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 2662331	NM_003107.3(SOX4):c.851C>G (p.Pro284Arg)	LOC129995965, SOX4 (P284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2656277	NM_003107.3(SOX4):c.868G>A (p.Glu290Lys)	SOX4 (E290K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167790	NM_003107.3(SOX4):c.890A>T (p.Tyr297Phe)	SOX4 (Y297F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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