SDK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3159053	NM_001144952.2(SDK2):c.6494T>C (p.Ile2165Thr)	SDK2 (I2165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316983	NM_001144952.2(SDK2):c.6485G>A (p.Arg2162Gln)	SDK2 (R2162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052066	NM_001144952.2(SDK2):c.6455G>A (p.Arg2152His)	SDK2 (R2152H)	Single nucleotide variant (missense variant)	SDK2-related disorder	GLikely benign
Select item 2367003	NM_001144952.2(SDK2):c.6454C>T (p.Arg2152Cys)	SDK2 (R2152C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2299110	NM_001144952.2(SDK2):c.6409C>A (p.Pro2137Thr)	SDK2 (P2137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996837	NM_001144952.2(SDK2):c.6383G>A (p.Arg2128Gln)	SDK2 (R2128Q)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2210674	NM_001144952.2(SDK2):c.6376C>G (p.Leu2126Val)	SDK2 (L2126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648178	NM_001144952.2(SDK2):c.6372C>A (p.Gly2124=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3316980	NM_001144952.2(SDK2):c.6320C>T (p.Ser2107Leu)	SDK2 (S2107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322715	NM_001144952.2(SDK2):c.6301A>C (p.Ser2101Arg)	SDK2 (S2101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159051	NM_001144952.2(SDK2):c.6287G>C (p.Arg2096Thr)	SDK2 (R2096T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316973	NM_001144952.2(SDK2):c.6263G>A (p.Arg2088Gln)	SDK2 (R2088Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030467	NM_001144952.2(SDK2):c.6165+5G>C	SDK2	Single nucleotide variant (intron variant)	SDK2-related disorder	GLikely benign
Select item 3316972	NM_001144952.2(SDK2):c.6157G>A (p.Asp2053Asn)	SDK2 (D2053N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035113	NM_001144952.2(SDK2):c.6114T>C (p.Pro2038=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GLikely benign
Select item 2544421	NM_001144952.2(SDK2):c.6103G>A (p.Asp2035Asn)	SDK2 (D2035N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396968	NM_001144952.2(SDK2):c.6081T>G (p.Asp2027Glu)	SDK2 (D2027E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159049	NM_001144952.2(SDK2):c.6035C>A (p.Thr2012Asn)	SDK2 (T2012N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322012	NM_001144952.2(SDK2):c.5998G>A (p.Val2000Ile)	SDK2 (V2000I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648179	NM_001144952.2(SDK2):c.5997C>T (p.Ser1999=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159048	NM_001144952.2(SDK2):c.5935G>A (p.Glu1979Lys)	SDK2 (E1979K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159047	NM_001144952.2(SDK2):c.5934C>A (p.Ser1978Arg)	SDK2 (S1978R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045799	NM_001144952.2(SDK2):c.5901G>C (p.Gly1967=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2351902	NM_001144952.2(SDK2):c.5894A>T (p.Asp1965Val)	SDK2 (D1965V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282309	NM_001144952.2(SDK2):c.5868G>C (p.Gln1956His)	SDK2 (Q1956H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276389	NM_001144952.2(SDK2):c.5767G>A (p.Ala1923Thr)	SDK2 (A1923T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159046	NM_001144952.2(SDK2):c.5752G>A (p.Val1918Met)	SDK2 (V1918M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047786	NM_001144952.2(SDK2):c.5724C>T (p.Phe1908=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GLikely benign
Select item 2553263	NM_001144952.2(SDK2):c.5621A>T (p.Lys1874Ile)	SDK2 (K1874I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316976	NM_001144952.2(SDK2):c.5581G>C (p.Ala1861Pro)	SDK2 (A1861P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548147	NM_001144952.2(SDK2):c.5504G>A (p.Arg1835Gln)	SDK2 (R1835Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314117	NM_001144952.2(SDK2):c.5503C>T (p.Arg1835Trp)	SDK2 (R1835W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033542	NM_001144952.2(SDK2):c.5462G>A (p.Gly1821Glu)	SDK2 (G1821E)	Single nucleotide variant (missense variant)	SDK2-related disorder	GBenign
Select item 3159045	NM_001144952.2(SDK2):c.5461G>A (p.Gly1821Arg)	SDK2 (G1821R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159044	NM_001144952.2(SDK2):c.5458C>G (p.Pro1820Ala)	SDK2 (P1820A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365576	NM_001144952.2(SDK2):c.5422T>C (p.Tyr1808His)	SDK2 (Y1808H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289993	NM_001144952.2(SDK2):c.5399G>A (p.Arg1800His)	SDK2 (R1800H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321341	NM_001144952.2(SDK2):c.5375C>T (p.Ala1792Val)	SDK2 (A1792V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456776	NM_001144952.2(SDK2):c.5332G>A (p.Val1778Met)	SDK2 (V1778M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159042	NM_001144952.2(SDK2):c.5326G>A (p.Val1776Met)	SDK2 (V1776M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223754	NM_001144952.2(SDK2):c.5266G>A (p.Gly1756Ser)	SDK2 (G1756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648180	NM_001144952.2(SDK2):c.5136C>T (p.Ser1712=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159041	NM_001144952.2(SDK2):c.5111A>G (p.Asn1704Ser)	SDK2 (N1704S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256668	NM_001144952.2(SDK2):c.5104G>A (p.Ala1702Thr)	SDK2 (A1702T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159040	NM_001144952.2(SDK2):c.5081C>T (p.Thr1694Met)	SDK2 (T1694M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159039	NM_001144952.2(SDK2):c.5052C>G (p.Ser1684Arg)	SDK2 (S1684R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316968	NM_001144952.2(SDK2):c.5051G>T (p.Ser1684Ile)	SDK2 (S1684I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472076	NM_001144952.2(SDK2):c.5021G>A (p.Arg1674Gln)	SDK2 (R1674Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159038	NM_001144952.2(SDK2):c.4937C>T (p.Pro1646Leu)	SDK2 (P1646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040084	NM_001144952.2(SDK2):c.4923C>T (p.Asp1641=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GLikely benign
Select item 3347955	NM_001144952.2(SDK2):c.4922A>T (p.Asp1641Val)	SDK2 (D1641V)	Single nucleotide variant (missense variant)	SDK2-related disorder	GUncertain significance
Select item 3045098	NM_001144952.2(SDK2):c.4908G>A (p.Thr1636=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GLikely benign
Select item 2468966	NM_001144952.2(SDK2):c.4903G>A (p.Ala1635Thr)	SDK2 (A1635T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316966	NM_001144952.2(SDK2):c.4900G>A (p.Gly1634Ser)	SDK2 (G1634S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159037	NM_001144952.2(SDK2):c.4852G>A (p.Val1618Ile)	SDK2 (V1618I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056009	NM_001144952.2(SDK2):c.4809C>T (p.Asn1603=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2534001	NM_001144952.2(SDK2):c.4801G>A (p.Val1601Met)	SDK2 (V1601M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159036	NM_001144952.2(SDK2):c.4793G>A (p.Arg1598Gln)	SDK2 (R1598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049250	NM_001144952.2(SDK2):c.4785C>T (p.Tyr1595=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GLikely benign
Select item 3159035	NM_001144952.2(SDK2):c.4777A>G (p.Arg1593Gly)	SDK2 (R1593G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046756	NM_001144952.2(SDK2):c.4763-5C>A	SDK2	Single nucleotide variant (intron variant)	SDK2-related disorder	GLikely benign
Select item 2559273	NM_001144952.2(SDK2):c.4733G>A (p.Arg1578Gln)	SDK2 (R1578Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369896	NM_001144952.2(SDK2):c.4721G>T (p.Arg1574Leu)	SDK2 (R1574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159033	NM_001144952.2(SDK2):c.4720C>T (p.Arg1574Trp)	SDK2 (R1574W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038870	NM_001144952.2(SDK2):c.4706-3T>A	SDK2	Single nucleotide variant (intron variant)	SDK2-related disorder	GLikely benign
Select item 2256802	NM_001144952.2(SDK2):c.4624C>T (p.Arg1542Trp)	SDK2 (R1542W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351717	NM_001144952.2(SDK2):c.4621T>C (p.Tyr1541His)	SDK2 (Y1541H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2260769	NM_001144952.2(SDK2):c.4612C>T (p.Arg1538Trp)	SDK2 (R1538W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159032	NM_001144952.2(SDK2):c.4571C>T (p.Pro1524Leu)	SDK2 (P1524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390757	NM_001144952.2(SDK2):c.4558A>G (p.Ile1520Val)	SDK2 (I1520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159030	NM_001144952.2(SDK2):c.4552G>A (p.Val1518Met)	SDK2 (V1518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057163	NM_001144952.2(SDK2):c.4533G>A (p.Thr1511=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2454883	NM_001144952.2(SDK2):c.4528G>A (p.Val1510Met)	SDK2 (V1510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056724	NM_001144952.2(SDK2):c.4506T>C (p.Asp1502=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2234427	NM_001144952.2(SDK2):c.4439A>G (p.Asn1480Ser)	SDK2 (N1480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047340	NM_001144952.2(SDK2):c.4410G>A (p.Thr1470=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GLikely benign
Select item 3316963	NM_001144952.2(SDK2):c.4409C>A (p.Thr1470Lys)	SDK2 (T1470K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159028	NM_001144952.2(SDK2):c.4395G>T (p.Arg1465Ser)	SDK2 (R1465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305054	NM_001144952.2(SDK2):c.4390G>A (p.Asp1464Asn)	SDK2 (D1464N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285515	NM_001144952.2(SDK2):c.4384A>G (p.Ile1462Val)	SDK2 (I1462V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057005	NM_001144952.2(SDK2):c.4371T>C (p.Asn1457=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2356981	NM_001144952.2(SDK2):c.4360G>A (p.Val1454Met)	SDK2 (V1454M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055533	NM_001144952.2(SDK2):c.4289C>G (p.Ser1430Cys)	SDK2 (S1430C)	Single nucleotide variant (missense variant)	SDK2-related disorder	GBenign
Select item 3047611	NM_001144952.2(SDK2):c.4272A>G (p.Pro1424=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2207816	NM_001144952.2(SDK2):c.4252G>A (p.Val1418Met)	SDK2 (V1418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159027	NM_001144952.2(SDK2):c.4249A>C (p.Ser1417Arg)	SDK2 (S1417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349044	NM_001144952.2(SDK2):c.4246C>T (p.Arg1416Cys)	SDK2 (R1416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316985	NM_001144952.2(SDK2):c.4220T>C (p.Met1407Thr)	SDK2 (M1407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648181	NM_001144952.2(SDK2):c.4218G>A (p.Pro1406=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057069	NM_001144952.2(SDK2):c.4200G>A (p.Pro1400=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 2291823	NM_001144952.2(SDK2):c.4165G>C (p.Ala1389Pro)	SDK2 (A1389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517348	NM_001144952.2(SDK2):c.4138C>T (p.Arg1380Cys)	SDK2 (R1380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032373	NM_001144952.2(SDK2):c.4130C>G (p.Ala1377Gly)	SDK2 (A1377G)	Single nucleotide variant (missense variant)	SDK2-related disorder	GUncertain significance
Select item 3050750	NM_001144952.2(SDK2):c.4071C>A (p.Ala1357=)	SDK2	Single nucleotide variant (synonymous variant)	SDK2-related disorder	GBenign
Select item 3316969	NM_001144952.2(SDK2):c.3983A>G (p.Asn1328Ser)	SDK2 (N1328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538150	NM_001144952.2(SDK2):c.3944C>T (p.Thr1315Met)	SDK2 (T1315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613051	NM_001144952.2(SDK2):c.3914T>G (p.Met1305Arg)	SDK2 (M1305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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