64321[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 1236117	NC_000008.11:g.54457917C>T	SOX17	Single nucleotide variant	not provided	GBenign
Select item 1293138	NM_022454.4(SOX17):c.-80C>T	SOX17	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 2019129	NM_022454.4(SOX17):c.57G>T (p.Ala19=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651365	NM_022454.4(SOX17):c.57G>C (p.Ala19=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1601523	NM_022454.4(SOX17):c.98C>A (p.Ala33Asp)	SOX17 (A33D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2194949	NM_022454.4(SOX17):c.117C>T (p.Ile39=)	SOX17	Single nucleotide variant (synonymous 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 2621863	NM_022454.4(SOX17):c.167C>A (p.Ala56Asp)	SOX17 (A56D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1422723	NM_022454.4(SOX17):c.192C>T (p.Gly64=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	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 2216941	NM_022454.4(SOX17):c.214A>T (p.Met72Leu)	SOX17 (M72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2309820	NM_022454.4(SOX17):c.241G>A (p.Asp81Asn)	SOX17 (D81N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2683958	NM_022454.4(SOX17):c.245A>G (p.Glu82Gly)	SOX17 (E82G)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 3	GLikely pathogenic
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 717906	NM_022454.4(SOX17):c.273A>T (p.Pro91=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1445355	NM_022454.4(SOX17):c.284A>G (p.Asn95Ser)	SOX17 (N95S)	Single nucleotide variant (missense variant)	not provided	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 2124053	NM_022454.4(SOX17):c.307+11G>C	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960905	NM_022454.4(SOX17):c.307+20C>A	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259489	NM_022454.4(SOX17):c.307+75_307+76insAG	SOX17	Insertion (intron variant)	not provided	GBenign
Select item 1265808	NM_022454.4(SOX17):c.307+149C>T	SOX17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222886	NM_022454.4(SOX17):c.308-146C>A	SOX17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267732	NM_022454.4(SOX17):c.308-140T>C	SOX17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271946	NM_022454.4(SOX17):c.308-80A>G	SOX17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988266	NM_022454.4(SOX17):c.308-19C>A	SOX17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904589	NM_022454.4(SOX17):c.308-19C>G	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964480	NM_022454.4(SOX17):c.308-18C>G	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756781	NM_022454.4(SOX17):c.308-9A>G	SOX17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527900	NM_022454.4(SOX17):c.314C>A (p.Ser105Ter)	SOX17 (S105*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
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 2989077	NM_022454.4(SOX17):c.331C>T (p.Leu111=)	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 1342514	NM_022454.4(SOX17):c.366G>C (p.Glu122Asp)	SOX17 (E122D)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 3	GUncertain significance
Select item 1023792	NM_022454.4(SOX17):c.373C>A (p.Arg125Ser)	SOX17 (R125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188434	NM_022454.4(SOX17):c.404A>G (p.Tyr135Cys)	SOX17 (Y135C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2150308	NM_022454.4(SOX17):c.417G>A (p.Pro139=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 523052	NM_022454.4(SOX17):c.456G>C (p.Glu152Asp)	SOX17 (E152D)	Single nucleotide variant (missense variant)	Vesicoureteral reflux	GLikely benign
Select item 1318893	NM_022454.4(SOX17):c.464T>G (p.Phe155Cys)	SOX17 (F155C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291951	NM_022454.4(SOX17):c.467T>C (p.Leu156Pro)	SOX17 (L156P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2902790	NM_022454.4(SOX17):c.471C>T (p.His157=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2713729	NM_022454.4(SOX17):c.477G>A (p.Leu159=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790840	NM_022454.4(SOX17):c.479C>T (p.Ala160Val)	SOX17 (A160V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 817453	NM_022454.4(SOX17):c.499_520del (p.Leu167fs)	SOX17 (L167fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 3007457	NM_022454.4(SOX17):c.495C>G (p.Ala165=)	SOX17	Single nucleotide variant (synonymous 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 2658604	NM_022454.4(SOX17):c.501G>A (p.Leu167=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2569540	NM_022454.4(SOX17):c.510G>C (p.Glu170Asp)	SOX17 (E170D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1560161	NM_022454.4(SOX17):c.523G>A (p.Ala175Thr)	SOX17 (A175T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1800544	NM_022454.4(SOX17):c.524C>A (p.Ala175Asp)	SOX17 (A175D)	Single nucleotide variant (missense variant)	not provided	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 18414	NM_022454.4(SOX17):c.532G>T (p.Gly178Cys)	SOX17 (G178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 762739	NM_022454.4(SOX17):c.549C>T (p.Phe183=)	SOX17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1932107	NM_022454.4(SOX17):c.565C>T (p.Pro189Ser)	SOX17 (P189S)	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 2610602	NM_022454.4(SOX17):c.569C>T (p.Ala190Val)	SOX17 (A190V)	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 2221657	NM_022454.4(SOX17):c.578C>T (p.Pro193Leu)	SOX17 (P193L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1599553	NM_022454.4(SOX17):c.585G>T (p.Leu195=)	SOX17	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 3 +1 more	GBenign/Likely benign
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 2065309	NM_022454.4(SOX17):c.591G>C (p.Pro197=)	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 2981418	NM_022454.4(SOX17):c.623G>A (p.Ser208Asn)	SOX17 (S208N)	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 2616504	NM_022454.4(SOX17):c.632C>T (p.Ala211Val)	SOX17 (A211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2143471	NM_022454.4(SOX17):c.633G>T (p.Ala211=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3234598	NM_022454.4(SOX17):c.646G>T (p.Gly216Cys)	SOX17 (G216C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1637023	NM_022454.4(SOX17):c.654G>A (p.Pro218=)	SOX17	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 3 +1 more	GLikely benign
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 1911143	NM_022454.4(SOX17):c.660C>T (p.Pro220=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725149	NM_022454.4(SOX17):c.684C>T (p.Asp228=)	SOX17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706147	NM_022454.4(SOX17):c.685G>C (p.Gly229Arg)	SOX17 (G229R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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