ClinVar for Gene (Select 6768) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170602	NM_021978.4(ST14):c.71C>T (p.Ser24Phe)	ST14 (S24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170601	NM_021978.4(ST14):c.662G>T (p.Arg221Leu)	ST14 (R221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170600	NM_021978.4(ST14):c.530G>A (p.Arg177His)	ST14 (R177H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170599	NM_021978.4(ST14):c.50G>T (p.Gly17Val)	ST14 (G17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170598	NM_021978.4(ST14):c.504G>C (p.Glu168Asp)	ST14 (E168D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3170596	NM_021978.4(ST14):c.481A>T (p.Ile161Phe)	ST14 (I161F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170595	NM_021978.4(ST14):c.2553G>C (p.Glu851Asp)	ST14 (E851D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170594	NM_021978.4(ST14):c.2164G>C (p.Glu722Gln)	ST14 (E722Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170593	NM_021978.4(ST14):c.1829C>T (p.Thr610Met)	ST14 (T610M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063223	GRCh37/hg19 11q24.3(chr11:129963003-130520740)x3	ADAMTS15, ADAMTS8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3058449	NM_021978.4(ST14):c.825G>A (p.Leu275=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 3057628	NM_021978.4(ST14):c.558C>T (p.Arg186=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 3047937	NM_021978.4(ST14):c.657C>T (p.His219=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 3037522	NM_021978.4(ST14):c.876-5C>G	ST14	Single nucleotide variant (intron variant)	ST14-related disorder	GLikely benign
Select item 3035265	NM_021978.4(ST14):c.2337C>A (p.Leu779=)	ST14	Single nucleotide variant (synonymous variant)	ST14-related disorder	GLikely benign
Select item 3026202	NM_021978.4(ST14):c.188T>A (p.Ile63Asn)	ST14 (I63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025055	NM_021978.4(ST14):c.330C>T (p.Ser110=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020566	NM_021978.4(ST14):c.82-17C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981644	NM_021978.4(ST14):c.1994+20G>A	ST14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964343	NM_021978.4(ST14):c.1224-14C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2889512	NM_021978.4(ST14):c.1718G>A (p.Arg573His)	ST14 (R573H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2888536	NM_021978.4(ST14):c.753C>T (p.Asp251=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862877	NM_021978.4(ST14):c.1047dup (p.Thr350fs)	ST14 (T350fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2858510	NM_021978.4(ST14):c.1170C>T (p.Pro390=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849267	NM_021978.4(ST14):c.1224-8_1224-7insA	ST14	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2849266	NM_021978.4(ST14):c.6G>A (p.Gly2=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2748586	NM_021978.4(ST14):c.1727A>G (p.Asn576Ser)	ST14 (N576S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2746055	NM_021978.4(ST14):c.840C>T (p.Asn280=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2743343	NM_021978.4(ST14):c.639C>T (p.Ser213=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642545	NM_021978.4(ST14):c.492C>T (p.His164=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617521	NM_021978.4(ST14):c.1085C>A (p.Pro362His)	ST14 (P362H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613412	NM_021978.4(ST14):c.253C>T (p.Arg85Cys)	ST14 (R85C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610325	NM_021978.4(ST14):c.358G>A (p.Val120Met)	ST14 (V120M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598861	NM_021978.4(ST14):c.645C>G (p.Ser215Arg)	ST14 (S215R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593007	NM_021978.4(ST14):c.1252G>A (p.Val418Ile)	ST14 (V418I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592334	NM_021978.4(ST14):c.511C>A (p.Arg171Ser)	ST14 (R171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574771	NM_021978.4(ST14):c.1433C>T (p.Thr478Ile)	ST14 (T478I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570087	NM_021978.4(ST14):c.551G>A (p.Arg184Gln)	ST14 (R184Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561255	NM_021978.4(ST14):c.1379G>A (p.Arg460His)	ST14 (R460H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519779	NM_021978.4(ST14):c.661C>T (p.Arg221Cys)	ST14 (R221C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2499239	NM_021978.4(ST14):c.1577C>T (p.Pro526Leu)	ST14 (P526L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2463710	NM_021978.4(ST14):c.931G>A (p.Val311Ile)	ST14 (V311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455604	NM_021978.4(ST14):c.1975A>G (p.Ile659Val)	ST14 (I659V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2444567	NM_021978.4(ST14):c.797C>T (p.Ala266Val)	ST14 (A266V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419593	NM_021978.4(ST14):c.1764C>T (p.Asp588=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406643	NM_021978.4(ST14):c.1174G>A (p.Val392Met)	ST14 (V392M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391566	NM_021978.4(ST14):c.1204G>A (p.Val402Met)	ST14 (V402M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386235	NM_021978.4(ST14):c.2262G>C (p.Gln754His)	ST14 (Q754H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354242	NM_021978.4(ST14):c.739G>A (p.Ala247Thr)	ST14 (A247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345408	NM_021978.4(ST14):c.2219C>G (p.Pro740Arg)	ST14 (P740R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319904	NM_021978.4(ST14):c.2231C>T (p.Ala744Val)	ST14 (A744V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306049	NM_021978.4(ST14):c.1007G>A (p.Arg336Lys)	ST14 (R336K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2286990	NM_021978.4(ST14):c.1282C>T (p.Arg428Cys)	ST14 (R428C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249417	NM_021978.4(ST14):c.1871G>A (p.Gly624Asp)	ST14 (G624D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240392	NM_021978.4(ST14):c.814G>A (p.Gly272Ser)	ST14 (G272S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237981	NM_021978.4(ST14):c.357G>C (p.Lys119Asn)	ST14 (K119N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233443	NM_021978.4(ST14):c.1236G>C (p.Glu412Asp)	ST14 (E412D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216265	NM_021978.4(ST14):c.1309G>A (p.Asp437Asn)	ST14 (D437N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216167	NM_021978.4(ST14):c.1141C>T (p.Arg381Cys)	ST14 (R381C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165215	NM_021978.4(ST14):c.36C>T (p.Gly12=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163886	NM_021978.4(ST14):c.513C>T (p.Arg171=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097966	NM_021978.4(ST14):c.628del (p.Gln210fs)	ST14 (Q210fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2091891	NM_021978.4(ST14):c.1459+5G>A	ST14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2060313	NM_021978.4(ST14):c.1856C>T (p.Thr619Met)	ST14 (T619M)	Single nucleotide variant (missense variant)	ST14-related disorder +1 more	GBenign/Likely benign
Select item 2053841	NM_021978.4(ST14):c.1770G>C (p.Lys590Asn)	ST14 (K590N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2038778	NM_021978.4(ST14):c.21C>T (p.Arg7=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2020333	NM_021978.4(ST14):c.2106C>A (p.Phe702Leu)	ST14 (F702L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940394	NM_021978.4(ST14):c.2294A>G (p.Lys765Arg)	ST14 (K765R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934660	NM_021978.4(ST14):c.1569C>A (p.Cys523Ter)	ST14 (C523*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1908224	NM_021978.4(ST14):c.2187C>A (p.Pro729=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899970	NM_021978.4(ST14):c.1924G>A (p.Gly642Ser)	ST14 (G642S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898410	NM_021978.4(ST14):c.1669G>A (p.Ala557Thr)	ST14 (A557T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878747	NM_021978.4(ST14):c.1346C>T (p.Ser449Phe)	ST14 (S449F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1810493	NM_021978.4(ST14):c.1255A>G (p.Thr419Ala)	ST14 (T419A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1696991	NM_021978.4(ST14):c.1027C>T (p.Arg343Cys)	ST14 (R343C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 1670712	NM_021978.4(ST14):c.635-5C>T	ST14	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1663529	NM_021978.4(ST14):c.1248C>T (p.Phe416=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648055	NM_021978.4(ST14):c.1223+15G>C	ST14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638220	NM_021978.4(ST14):c.855G>A (p.Met285Ile)	ST14 (M285I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1634276	NM_021978.4(ST14):c.242-19G>A	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1625929	NM_021978.4(ST14):c.254G>A (p.Arg85His)	ST14 (R85H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1601291	NM_021978.4(ST14):c.2406+4G>C	ST14	Single nucleotide variant (intron variant)	ST14-related disorder +1 more	GBenign
Select item 1601241	NM_021978.4(ST14):c.2424C>T (p.Pro808=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1599867	NM_021978.4(ST14):c.120A>G (p.Pro40=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1599024	NM_021978.4(ST14):c.1141C>A (p.Arg381Ser)	ST14 (R381S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1590512	NM_021978.4(ST14):c.1557C>T (p.Asp519=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589208	NM_021978.4(ST14):c.1571-15C>A	ST14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1582658	NM_021978.4(ST14):c.2277C>A (p.Gly759=)	ST14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552531	NM_021978.4(ST14):c.1383G>T (p.Thr461=)	ST14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1532737	NM_021978.4(ST14):c.1224-5T>C	ST14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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