ClinVar for Gene (Select 64132) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 403

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3471599	NM_022167.4(XYLT2):c.1349C>A (p.Thr450Asn)	XYLT2 (T450N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471598	NM_022167.4(XYLT2):c.766T>C (p.Tyr256His)	XYLT2 (Y256H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471597	NM_022167.4(XYLT2):c.2253C>A (p.Asn751Lys)	XYLT2 (N751K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471596	NM_022167.4(XYLT2):c.2593A>T (p.Arg865Trp)	XYLT2 (R865W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471594	NM_022167.4(XYLT2):c.179G>T (p.Gly60Val)	XYLT2 (G60V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471593	NM_022167.4(XYLT2):c.1156G>A (p.Glu386Lys)	XYLT2 (E386K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471592	NM_022167.4(XYLT2):c.2398C>T (p.His800Tyr)	XYLT2 (H800Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471591	NM_022167.4(XYLT2):c.1643G>A (p.Ser548Asn)	XYLT2 (S548N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471589	NM_022167.4(XYLT2):c.358C>T (p.Arg120Cys)	XYLT2 (R120C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3471588	NM_022167.4(XYLT2):c.2159G>A (p.Arg720Gln)	XYLT2 (R720Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3380501	NM_022167.4(XYLT2):c.1582C>A (p.Pro528Thr)	XYLT2 (P528T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358633	NM_022167.4(XYLT2):c.2189G>A (p.Arg730Gln)	XYLT2 (R730Q)	Single nucleotide variant (missense variant +1 more)	XYLT2-related disorder	GUncertain significance
Select item 3355313	NM_022167.4(XYLT2):c.1131C>T (p.Cys377=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	XYLT2-related disorder	GLikely benign
Select item 3351712	NM_022167.4(XYLT2):c.1979G>A (p.Arg660Gln)	XYLT2 (R660Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3347164	NM_022167.4(XYLT2):c.1510C>T (p.Arg504Trp)	XYLT2 (R504W)	Single nucleotide variant (missense variant +1 more)	XYLT2-related disorder	GUncertain significance
Select item 3340122	NM_022167.4(XYLT2):c.1736del (p.Pro579fs)	XYLT2 (P579fs)	Deletion (frameshift variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
Select item 3338623	NM_022167.4(XYLT2):c.1636G>T (p.Gly546Cys)	XYLT2 (G546C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338621	NM_022167.4(XYLT2):c.1336C>T (p.Leu446=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 3333607	NM_022167.4(XYLT2):c.2254C>T (p.Arg752Cys)	XYLT2 (R752C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3333606	NM_022167.4(XYLT2):c.904A>G (p.Ser302Gly)	XYLT2 (S302G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3191383	NM_022167.4(XYLT2):c.814T>C (p.Tyr272His)	XYLT2 (Y272H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3191380	NM_022167.4(XYLT2):c.2527A>G (p.Ser843Gly)	XYLT2 (S843G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191379	NM_022167.4(XYLT2):c.2525C>T (p.Thr842Ile)	XYLT2 (T842I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191378	NM_022167.4(XYLT2):c.2413G>A (p.Gly805Ser)	XYLT2 (G805S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191377	NM_022167.4(XYLT2):c.2221A>G (p.Thr741Ala)	XYLT2 (T741A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191376	NM_022167.4(XYLT2):c.2029C>T (p.Arg677Cys)	XYLT2 (R677C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191374	NM_022167.4(XYLT2):c.1771A>G (p.Ser591Gly)	XYLT2 (S591G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191373	NM_022167.4(XYLT2):c.1624G>A (p.Asp542Asn)	XYLT2 (D542N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064120	NM_022167.4(XYLT2):c.2443G>T (p.Glu815Ter)	XYLT2 (E815*)	Single nucleotide variant (nonsense +1 more)	Spondylo-ocular syndrome	GUncertain significance
Select item 3063531	GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3	COL1A1, PDK2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3056856	NM_022167.4(XYLT2):c.1584C>G (p.Pro528=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	XYLT2-related disorder	GLikely benign
Select item 3055396	NM_022167.4(XYLT2):c.729C>T (p.Arg243=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	XYLT2-related disorder	GLikely benign
Select item 3019297	NM_022167.4(XYLT2):c.1585G>A (p.Gly529Ser)	XYLT2 (G529S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017850	NM_022167.4(XYLT2):c.2193C>T (p.Leu731=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010367	NM_022167.4(XYLT2):c.1077G>A (p.Arg359=)	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 2990194	NM_022167.4(XYLT2):c.2166G>A (p.Leu722=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990136	NM_022167.4(XYLT2):c.2276-16T>G	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988517	NM_022167.4(XYLT2):c.1488C>T (p.Val496=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2983847	NM_022167.4(XYLT2):c.2094C>G (p.Ala698=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983709	NM_022167.4(XYLT2):c.628+16G>A	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2964781	NM_022167.4(XYLT2):c.1827G>A (p.Ala609=)	XYLT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2907190	NM_022167.4(XYLT2):c.612G>A (p.Arg204=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2902498	NM_022167.4(XYLT2):c.2379G>A (p.Ala793=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899238	NM_022167.4(XYLT2):c.1628C>T (p.Ala543Val)	XYLT2 (A543V)	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 2895784	NM_022167.4(XYLT2):c.1464G>A (p.Gln488=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893154	NM_022167.4(XYLT2):c.1422T>C (p.Ile474=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892431	NM_022167.4(XYLT2):c.1075C>T (p.Arg359Trp)	XYLT2 (R359W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889292	NM_022167.4(XYLT2):c.762C>T (p.Ala254=)	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 2871159	NM_022167.4(XYLT2):c.1410G>A (p.Gln470=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849220	NM_022167.4(XYLT2):c.2583C>T (p.Asp861=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843789	NM_022167.4(XYLT2):c.1770C>T (p.Ser590=)	XYLT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820465	NM_022167.4(XYLT2):c.1249G>C (p.Asp417His)	XYLT2 (D417H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2798238	NM_022167.4(XYLT2):c.1851G>A (p.Pro617=)	XYLT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794563	NM_022167.4(XYLT2):c.2121G>A (p.Thr707=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786549	NM_022167.4(XYLT2):c.1483-7A>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785508	NM_022167.4(XYLT2):c.1746-12C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2781982	NM_022167.4(XYLT2):c.1942-20A>G	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776937	NM_022167.4(XYLT2):c.2514C>A (p.Pro838=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776265	NM_022167.4(XYLT2):c.1980del (p.Asn661fs)	XYLT2 (N661fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2756143	NM_022167.4(XYLT2):c.1005C>A (p.Thr335=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755688	NM_022167.4(XYLT2):c.2478_2479del (p.Ala827fs)	XYLT2 (A827fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2746637	NM_022167.4(XYLT2):c.1941+7C>T	XYLT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2699307	NM_022167.4(XYLT2):c.742C>G (p.Leu248Val)	XYLT2 (L248V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2692407	Single allele	ABCC3, ABI3 +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692406	Single allele	ACSF2, COL1A1 +8 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 2616031	NM_022167.4(XYLT2):c.878G>A (p.Arg293His)	XYLT2 (R293H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602624	NM_022167.4(XYLT2):c.1970G>A (p.Arg657His)	XYLT2 (R657H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570659	NM_022167.4(XYLT2):c.1584del (p.Gly529fs)	XYLT2 (G529fs)	Deletion (frameshift variant +1 more)	Spondylo-ocular syndrome	GLikely pathogenic
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 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 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 2523695	NM_022167.4(XYLT2):c.772G>C (p.Glu258Gln)	XYLT2 (E258Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513871	NM_022167.4(XYLT2):c.801C>G (p.Asp267Glu)	XYLT2 (D267E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2479789	NM_022167.4(XYLT2):c.1129T>C (p.Cys377Arg)	XYLT2 (C377R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465113	NM_022167.4(XYLT2):c.2378C>T (p.Ala793Val)	XYLT2 (A793V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430623	NM_022167.4(XYLT2):c.2587C>T (p.Arg863Ter)	XYLT2 (R863*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2417594	NM_022167.4(XYLT2):c.1569_1570inv (p.Gly524Ser)	XYLT2 (G524S)	Inversion (missense variant +1 more)	not provided	GUncertain significance
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 2386976	NM_022167.4(XYLT2):c.1540G>A (p.Val514Met)	XYLT2 (V514M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338567	NM_022167.4(XYLT2):c.863G>A (p.Arg288Gln)	XYLT2 (R288Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328731	NM_022167.4(XYLT2):c.1931A>G (p.Gln644Arg)	XYLT2 (Q644R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321351	NM_022167.4(XYLT2):c.901G>A (p.Ala301Thr)	XYLT2 (A301T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316122	NM_022167.4(XYLT2):c.1270C>T (p.Arg424Cys)	XYLT2 (R424C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315151	NM_022167.4(XYLT2):c.2039G>A (p.Arg680Gln)	XYLT2 (R680Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304883	NM_022167.4(XYLT2):c.1903G>A (p.Gly635Arg)	XYLT2 (G635R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 5