64132[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 390

<< First< Prev

Page of 4

	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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 1227828	NC_000017.11:g.50345953G>A	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 1294957	NC_000017.11:g.50346057G>C	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 1179491	NC_000017.11:g.50346057G>A	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 1264676	NC_000017.11:g.50346069G>C	LOC130061159, XYLT2	Single nucleotide variant	not provided	GBenign
Select item 2186766	NM_022167.4(XYLT2):c.5T>G (p.Val2Gly)	XYLT2 (V2G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2276299	NM_022167.4(XYLT2):c.8C>T (p.Ala3Val)	XYLT2 (A3V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1664871	NM_022167.4(XYLT2):c.15G>A (p.Ala5=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991761	NM_022167.4(XYLT2):c.29T>A (p.Leu10Gln)	XYLT2 (L10Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1277109	NM_022167.4(XYLT2):c.30G>T (p.Leu10=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	Spondylo-ocular syndrome +2 more	GBenign
Select item 1475665	NM_022167.4(XYLT2):c.32T>G (p.Val11Gly)	XYLT2 (V11G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490020	NM_022167.4(XYLT2):c.34C>T (p.Arg12Trp)	LOC130061160, XYLT2 (R12W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1702084	NM_022167.4(XYLT2):c.38G>T (p.Arg13Leu)	LOC130061160, XYLT2 (R13L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta	GUncertain significance
Select item 2985875	NM_022167.4(XYLT2):c.46C>T (p.Leu16=)	LOC130061160, XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1389133	NM_022167.4(XYLT2):c.62C>T (p.Ala21Val)	LOC130061160, XYLT2 (A21V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2703601	NM_022167.4(XYLT2):c.69C>T (p.Ala23=)	LOC130061160, XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3333605	NM_022167.4(XYLT2):c.110G>A (p.Gly37Asp)	LOC130061160, XYLT2 (G37D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1590917	NM_022167.4(XYLT2):c.129G>C (p.Ala43=)	LOC130061160, XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881284	NM_022167.4(XYLT2):c.135+9A>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709317	NM_022167.4(XYLT2):c.135+10C>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1918337	NM_022167.4(XYLT2):c.135+14C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251286	NM_022167.4(XYLT2):c.135+98G>C	LOC130061161, XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261063	NM_022167.4(XYLT2):c.136-27A>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909753	NM_022167.4(XYLT2):c.136-16T>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154838	NM_022167.4(XYLT2):c.144G>T (p.Arg48Ser)	XYLT2 (R48S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095024	NM_022167.4(XYLT2):c.156A>G (p.Pro52=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2484160	NM_022167.4(XYLT2):c.158G>A (p.Arg53Gln)	XYLT2 (R53Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1299780	NM_022167.4(XYLT2):c.166G>A (p.Asp56Asn)	XYLT2 (D56N)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 1654629	NM_022167.4(XYLT2):c.174C>T (p.Gly58=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1243238	NM_022167.4(XYLT2):c.177G>A (p.Glu59=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1993654	NM_022167.4(XYLT2):c.193G>A (p.Asp65Asn)	XYLT2 (D65N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907949	NM_022167.4(XYLT2):c.211C>A (p.Arg71=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2222377	NM_022167.4(XYLT2):c.212G>A (p.Arg71Gln)	XYLT2 (R71Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1430913	NM_022167.4(XYLT2):c.217A>G (p.Ser73Gly)	XYLT2 (S73G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783669	NM_022167.4(XYLT2):c.234T>C (p.His78=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1702079	NM_022167.4(XYLT2):c.239G>T (p.Arg80Leu)	XYLT2 (R80L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta	GUncertain significance
Select item 1371349	NM_022167.4(XYLT2):c.251G>A (p.Arg84His)	XYLT2 (R84H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909954	NM_022167.4(XYLT2):c.252T>C (p.Arg84=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2414705	NM_022167.4(XYLT2):c.273C>T (p.Pro91=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3191381	NM_022167.4(XYLT2):c.274G>A (p.Val92Met)	XYLT2 (V92M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2066203	NM_022167.4(XYLT2):c.281A>C (p.Lys94Thr)	XYLT2 (K94T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1410552	NM_022167.4(XYLT2):c.289C>T (p.Arg97Trp)	XYLT2 (R97W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365268	NM_022167.4(XYLT2):c.290G>A (p.Arg97Gln)	XYLT2 (R97Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2267625	NM_022167.4(XYLT2):c.299C>T (p.Thr100Ile)	XYLT2 (T100I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1450356	NM_022167.4(XYLT2):c.299C>G (p.Thr100Ser)	XYLT2 (T100S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417520	NM_022167.4(XYLT2):c.311G>A (p.Arg104Lys)	XYLT2 (R104K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973105	NM_022167.4(XYLT2):c.320G>A (p.Arg107Gln)	XYLT2 (R107Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 726071	NM_022167.4(XYLT2):c.322C>T (p.Arg108Trp)	XYLT2 (R108W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 638428	NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu)	XYLT2 (P114L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 1274419	NM_022167.4(XYLT2):c.342C>T (p.Pro114=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	Spondylo-ocular syndrome +1 more	GBenign
Select item 1702083	NM_022167.4(XYLT2):c.344C>T (p.Pro115Leu)	XYLT2 (P115L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 1537593	NM_022167.4(XYLT2):c.345G>A (p.Pro115=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773318	NM_022167.4(XYLT2):c.359G>A (p.Arg120His)	XYLT2 (R120H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 2081580	NM_022167.4(XYLT2):c.371G>C (p.Ser124Thr)	XYLT2 (S124T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896465	NM_022167.4(XYLT2):c.411C>G (p.Gly137=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2081611	NM_022167.4(XYLT2):c.424G>A (p.Gly142Arg)	XYLT2 (G142R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120549	NM_022167.4(XYLT2):c.436A>T (p.Ser146Cys)	XYLT2 (S146C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2554689	NM_022167.4(XYLT2):c.437G>A (p.Ser146Asn)	XYLT2 (S146N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1622483	NM_022167.4(XYLT2):c.438C>T (p.Ser146=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1416273	NM_022167.4(XYLT2):c.439G>A (p.Val147Met)	XYLT2 (V147M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497936	NM_022167.4(XYLT2):c.447C>T (p.Gly149=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1589157	NM_022167.4(XYLT2):c.448G>A (p.Ala150Thr)	XYLT2 (A150T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1605897	NM_022167.4(XYLT2):c.453C>G (p.Pro151=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1541876	NM_022167.4(XYLT2):c.453C>T (p.Pro151=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3191382	NM_022167.4(XYLT2):c.461C>T (p.Thr154Met)	XYLT2 (T154M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293543	NM_022167.4(XYLT2):c.463G>A (p.Asp155Asn)	XYLT2 (D155N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3333608	NM_022167.4(XYLT2):c.472T>C (p.Phe158Leu)	XYLT2 (F158L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1376113	NM_022167.4(XYLT2):c.487G>A (p.Glu163Lys)	XYLT2 (E163K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1620087	NM_022167.4(XYLT2):c.489G>A (p.Glu163=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559281	NM_022167.4(XYLT2):c.492C>T (p.Ile164=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1434260	NM_022167.4(XYLT2):c.493G>A (p.Val165Met)	XYLT2 (V165M)	Single nucleotide variant (missense variant +1 more)	XYLT2-related disorder +2 more	GUncertain significance
Select item 1359096	NM_022167.4(XYLT2):c.496G>A (p.Gly166Ser)	XYLT2 (G166S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 742014	NM_022167.4(XYLT2):c.504C>T (p.Asp168=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 444410	NM_022167.4(XYLT2):c.509T>C (p.Leu170Pro)	XYLT2 (L170P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1588714	NM_022167.4(XYLT2):c.516A>G (p.Ala172=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999224	NM_022167.4(XYLT2):c.519G>A (p.Leu173=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 207978	NM_022167.4(XYLT2):c.520del (p.Ala174fs)	XYLT2 (A174fs)	Deletion (frameshift variant +1 more)	Spondylo-ocular syndrome	GPathogenic
Select item 1508590	NM_022167.4(XYLT2):c.527C>T (p.Ala176Val)	XYLT2 (A176V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926856	NM_022167.4(XYLT2):c.544C>A (p.Gln182Lys)	XYLT2 (Q182K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992577	NM_022167.4(XYLT2):c.552G>A (p.Glu184=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2546459	NM_022167.4(XYLT2):c.560A>G (p.Asn187Ser)	XYLT2 (N187S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560384	NM_022167.4(XYLT2):c.602C>T (p.Ala201Val)	XYLT2 (A201V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2056234	NM_022167.4(XYLT2):c.604G>A (p.Val202Met)	XYLT2 (V202M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432765	NM_022167.4(XYLT2):c.611G>A (p.Arg204Gln)	XYLT2 (R204Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907190	NM_022167.4(XYLT2):c.612G>A (p.Arg204=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1472971	NM_022167.4(XYLT2):c.617G>C (p.Cys206Ser)	XYLT2 (C206S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983709	NM_022167.4(XYLT2):c.628+16G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916059	NM_022167.4(XYLT2):c.628+18T>C	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908168	NM_022167.4(XYLT2):c.629-19G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604147	NM_022167.4(XYLT2):c.629-17C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954521	NM_022167.4(XYLT2):c.629-7C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913273	NM_022167.4(XYLT2):c.637A>G (p.Ser213Gly)	XYLT2 (S213G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076803	NM_022167.4(XYLT2):c.643G>A (p.Gly215Ser)	XYLT2 (G215S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1627434	NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp)	XYLT2 (E220D)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 1638853	NM_022167.4(XYLT2):c.669C>G (p.Ala223=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 207977	NM_022167.4(XYLT2):c.692dup (p.Val232fs)	XYLT2 (V232fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1936888	NM_022167.4(XYLT2):c.692C>T (p.Pro231Leu)	XYLT2 (P231L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 4