ClinVar for Gene (Select 64321) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321628	NM_022454.4(SOX17):c.647G>C (p.Gly216Ala)	SOX17 (G216A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321627	NM_022454.4(SOX17):c.659C>T (p.Pro220Leu)	SOX17 (P220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321626	NM_022454.4(SOX17):c.303G>T (p.Met101Ile)	SOX17 (M101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321625	NM_022454.4(SOX17):c.756C>A (p.Ser252Arg)	SOX17 (S252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234598	NM_022454.4(SOX17):c.646G>T (p.Gly216Cys)	SOX17 (G216C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167744	NM_022454.4(SOX17):c.996G>C (p.Gln332His)	SOX17 (Q332H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167743	NM_022454.4(SOX17):c.58C>G (p.Leu20Val)	SOX17 (L20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167742	NM_022454.4(SOX17):c.574C>T (p.Pro192Ser)	SOX17 (P192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167741	NM_022454.4(SOX17):c.564C>A (p.Phe188Leu)	SOX17 (F188L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167740	NM_022454.4(SOX17):c.532G>A (p.Gly178Ser)	SOX17 (G178S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167739	NM_022454.4(SOX17):c.1142G>C (p.Gly381Ala)	SOX17 (G381A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167738	NM_022454.4(SOX17):c.1106T>C (p.Phe369Ser)	SOX17 (F369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167737	NM_022454.4(SOX17):c.1097A>G (p.Tyr366Cys)	SOX17 (Y366C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3043707	NM_022454.4(SOX17):c.782G>C (p.Gly261Ala)	SOX17 (G261A)	Single nucleotide variant (missense variant)	SOX17-related disorder	GUncertain significance
Select item 3031555	NM_022454.4(SOX17):c.981C>G (p.Pro327=)	SOX17	Single nucleotide variant (synonymous variant)	SOX17-related disorder	GLikely benign
Select item 3029347	NM_022454.4(SOX17):c.534C>T (p.Gly178=)	SOX17	Single nucleotide variant (synonymous variant)	SOX17-related disorder	GLikely benign
Select item 3029106	NM_022454.4(SOX17):c.1020G>C (p.Leu340=)	SOX17	Single nucleotide variant (synonymous variant)	SOX17-related disorder	GLikely benign
Select item 3026467	NM_022454.4(SOX17):c.750C>T (p.Thr250=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010461	NM_022454.4(SOX17):c.846G>T (p.Ser282=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008244	NM_022454.4(SOX17):c.749C>T (p.Thr250Ile)	SOX17 (T250I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007457	NM_022454.4(SOX17):c.495C>G (p.Ala165=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991557	NM_022454.4(SOX17):c.954GCACCA[7] (p.His325_His326insGlnHisGlnHisGlnHis)	SOX17	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2989077	NM_022454.4(SOX17):c.331C>T (p.Leu111=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981418	NM_022454.4(SOX17):c.623G>A (p.Ser208Asn)	SOX17 (S208N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964480	NM_022454.4(SOX17):c.308-18C>G	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961352	NM_022454.4(SOX17):c.785C>A (p.Pro262His)	SOX17 (P262H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960905	NM_022454.4(SOX17):c.307+20C>A	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909246	NM_022454.4(SOX17):c.499C>G (p.Leu167Val)	SOX17 (L167V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902790	NM_022454.4(SOX17):c.471C>T (p.His157=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888279	NM_022454.4(SOX17):c.801C>G (p.Ala267=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886951	NM_022454.4(SOX17):c.634C>T (p.Pro212Ser)	SOX17 (P212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886712	NM_022454.4(SOX17):c.566C>A (p.Pro189His)	SOX17 (P189H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882592	NM_022454.4(SOX17):c.987C>T (p.Gly329=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868258	NM_022454.4(SOX17):c.451G>A (p.Val151Met)	SOX17 (V151M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854015	NM_022454.4(SOX17):c.954GCACCA[3] (p.316QH[4])	SOX17	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2836393	NM_022454.4(SOX17):c.221C>T (p.Ala74Val)	SOX17 (A74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764010	NM_022454.4(SOX17):c.416C>G (p.Pro139Arg)	SOX17 (P139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748071	NM_022454.4(SOX17):c.316T>G (p.Trp106Gly)	SOX17 (W106G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726465	NM_022454.4(SOX17):c.911G>C (p.Gly304Ala)	SOX17 (G304A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725149	NM_022454.4(SOX17):c.684C>T (p.Asp228=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713729	NM_022454.4(SOX17):c.477G>A (p.Leu159=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683958	NM_022454.4(SOX17):c.245A>G (p.Glu82Gly)	SOX17 (E82G)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 3	GLikely pathogenic
Select item 2658606	NC_000008.11:g.54466866G>A	LOC100129098, SOX17	Single nucleotide variant	not provided	GBenign
Select item 2658605	NM_022454.4(SOX17):c.762G>A (p.Ala254=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658604	NM_022454.4(SOX17):c.501G>A (p.Leu167=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658603	NM_022454.4(SOX17):c.342_343delinsTT (p.Lys114_Arg115delinsAsnTrp)	SOX17	Indel (missense variant)	not provided	GUncertain significance
Select item 2636949	NM_022454.4(SOX17):c.51G>T (p.Gln17His)	SOX17 (Q17H)	Single nucleotide variant (missense variant)	SOX17-related disorder	GUncertain significance
Select item 2621863	NM_022454.4(SOX17):c.167C>A (p.Ala56Asp)	SOX17 (A56D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616504	NM_022454.4(SOX17):c.632C>T (p.Ala211Val)	SOX17 (A211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610602	NM_022454.4(SOX17):c.569C>T (p.Ala190Val)	SOX17 (A190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584495	NM_022454.4(SOX17):c.208C>G (p.Arg70Gly)	SOX17 (R70G)	Single nucleotide variant (missense variant)	Sox17- related disorders	GLikely pathogenic
Select item 2583067	NM_022454.4(SOX17):c.856C>A (p.Leu286Ile)	SOX17 (L286I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569540	NM_022454.4(SOX17):c.510G>C (p.Glu170Asp)	SOX17 (E170D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569539	NM_022454.4(SOX17):c.493G>A (p.Ala165Thr)	SOX17 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569537	NM_022454.4(SOX17):c.488A>C (p.Gln163Pro)	SOX17 (Q163P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568467	NM_022454.4(SOX17):c.488A>G (p.Gln163Arg)	SOX17 (Q163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561214	NM_022454.4(SOX17):c.489G>C (p.Gln163His)	SOX17 (Q163H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480648	NM_022454.4(SOX17):c.719C>T (p.Pro240Leu)	SOX17 (P240L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458563	NM_022454.4(SOX17):c.502G>T (p.Gly168Cys)	SOX17 (G168C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446336	NM_022454.4(SOX17):c.248G>A (p.Arg83His)	SOX17 (R83H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442628	NM_022454.4(SOX17):c.948_953dup (p.His325_His326insGlnHis)	SOX17	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2410751	NM_022454.4(SOX17):c.757T>A (p.Tyr253Asn)	SOX17 (Y253N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401526	NM_022454.4(SOX17):c.586C>T (p.Pro196Ser)	SOX17 (P196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401331	NM_022454.4(SOX17):c.957C>G (p.His319Gln)	SOX17 (H319Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399318	NM_022454.4(SOX17):c.892G>A (p.Gly298Ser)	SOX17 (G298S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388220	NM_022454.4(SOX17):c.1133C>T (p.Pro378Leu)	SOX17 (P378L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355551	NM_022454.4(SOX17):c.982C>G (p.Pro328Ala)	SOX17 (P328A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2313711	NM_022454.4(SOX17):c.170G>A (p.Gly57Glu)	SOX17 (G57E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309820	NM_022454.4(SOX17):c.241G>A (p.Asp81Asn)	SOX17 (D81N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221657	NM_022454.4(SOX17):c.578C>T (p.Pro193Leu)	SOX17 (P193L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216941	NM_022454.4(SOX17):c.214A>T (p.Met72Leu)	SOX17 (M72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214994	NM_022454.4(SOX17):c.471C>A (p.His157Gln)	SOX17 (H157Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194949	NM_022454.4(SOX17):c.117C>T (p.Ile39=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189872	NM_022454.4(SOX17):c.595A>T (p.Met199Leu)	SOX17 (M199L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2152043	NM_022454.4(SOX17):c.164C>T (p.Pro55Leu)	SOX17 (P55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150308	NM_022454.4(SOX17):c.417G>A (p.Pro139=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2143471	NM_022454.4(SOX17):c.633G>T (p.Ala211=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2130388	NM_022454.4(SOX17):c.817C>G (p.Arg273Gly)	SOX17 (R273G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124053	NM_022454.4(SOX17):c.307+11G>C	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073092	NM_022454.4(SOX17):c.1166C>T (p.Pro389Leu)	SOX17 (P389L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2065309	NM_022454.4(SOX17):c.591G>C (p.Pro197=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061435	NM_022454.4(SOX17):c.788C>T (p.Pro263Leu)	SOX17 (P263L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2058873	NM_022454.4(SOX17):c.1053C>A (p.Pro351=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2058735	NM_022454.4(SOX17):c.243C>G (p.Asp81Glu)	SOX17 (D81E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056299	NM_022454.4(SOX17):c.756C>G (p.Ser252Arg)	SOX17 (S252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2051220	NM_022454.4(SOX17):c.581T>C (p.Leu194Pro)	SOX17 (L194P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044726	NM_022454.4(SOX17):c.1077C>G (p.Asp359Glu)	SOX17 (D359E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2044602	NM_022454.4(SOX17):c.732C>T (p.Asp244=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019129	NM_022454.4(SOX17):c.57G>T (p.Ala19=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990484	NM_022454.4(SOX17):c.954GCACCA[2] (p.316QH[3])	SOX17	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1988266	NM_022454.4(SOX17):c.308-19C>A	SOX17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1948174	NM_022454.4(SOX17):c.1075G>T (p.Asp359Tyr)	SOX17 (D359Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932107	NM_022454.4(SOX17):c.565C>T (p.Pro189Ser)	SOX17 (P189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923236	NM_022454.4(SOX17):c.625C>G (p.Leu209Val)	SOX17 (L209V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911143	NM_022454.4(SOX17):c.660C>T (p.Pro220=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906798	NM_022454.4(SOX17):c.1059G>A (p.Glu353=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906680	NM_022454.4(SOX17):c.766G>T (p.Val256Phe)	SOX17 (V256F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904589	NM_022454.4(SOX17):c.308-19C>G	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign

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