7498[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 787

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 151422	GRCh38/hg38 2p23.1(chr2:31327058-31353154)x3	XDH	Copy number gain	See cases	GLikely benign
Select item 895381	NM_000379.4(XDH):c.*1601G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335733	NM_000379.4(XDH):c.*1555G>T	XDH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335734	NM_000379.4(XDH):c.*1516C>T	XDH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335735	NM_000379.4(XDH):c.*1494A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335736	NM_000379.4(XDH):c.*1491A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335737	NM_000379.4(XDH):c.*1477A>G	XDH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335738	NM_000379.4(XDH):c.*1452C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896781	NM_000379.4(XDH):c.*1417A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335739	NM_000379.4(XDH):c.*1407C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896782	NM_000379.4(XDH):c.*1338G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897263	NM_000379.4(XDH):c.*1264G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897264	NM_000379.4(XDH):c.*1220C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897265	NM_000379.4(XDH):c.*1183T>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335740	NM_000379.4(XDH):c.*1094A>C	XDH	Single nucleotide variant (3 prime UTR variant)	Xanthinuria	GUncertain significance
Select item 335741	NM_000379.4(XDH):c.*1081A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GBenign
Select item 897266	NM_000379.4(XDH):c.*1062T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335742	NM_000379.4(XDH):c.*945C>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335743	NM_000379.4(XDH):c.*938G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897267	NM_000379.4(XDH):c.*913T>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335744	NM_000379.4(XDH):c.*912A>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 335745	NM_000379.4(XDH):c.*881G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335746	NM_000379.4(XDH):c.*878T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 335747	NM_000379.4(XDH):c.*829G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335748	NM_000379.4(XDH):c.*823A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898437	NM_000379.4(XDH):c.*732T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898438	NM_000379.4(XDH):c.*731A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335749	NM_000379.4(XDH):c.*705CT[1]	XDH	Microsatellite (3 prime UTR variant)	Xanthinuria	GLikely benign
Select item 335750	NM_000379.4(XDH):c.*699C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895444	NM_000379.4(XDH):c.*694T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895445	NM_000379.4(XDH):c.*693G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895446	NM_000379.4(XDH):c.*686A>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895447	NM_000379.4(XDH):c.*674C>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895448	NM_000379.4(XDH):c.*628A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 895449	NM_000379.4(XDH):c.*570G>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 335751	NM_000379.4(XDH):c.*518A>G	XDH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335752	NM_000379.4(XDH):c.*475A>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896849	NM_000379.4(XDH):c.*437C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335753	NM_000379.4(XDH):c.*404C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896850	NM_000379.4(XDH):c.*371C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896851	NM_000379.4(XDH):c.*308C>A	XDH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 896852	NM_000379.4(XDH):c.*220G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896854	NM_000379.4(XDH):c.*193G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 896853	NM_000379.4(XDH):c.*193G>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GLikely benign
Select item 896855	NM_000379.4(XDH):c.*105C>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897346	NM_000379.4(XDH):c.*43T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 335754	NM_000379.4(XDH):c.*41G>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1 +1 more	GBenign
Select item 897347	NM_000379.4(XDH):c.*6G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 1361758	NM_000379.4(XDH):c.3994A>G (p.Arg1332Gly)	XDH (R1332G)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 3190988	NM_000379.4(XDH):c.3976T>C (p.Cys1326Arg)	XDH (C1326R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190987	NM_000379.4(XDH):c.3971A>G (p.Glu1324Gly)	XDH (E1324G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1984649	NM_000379.4(XDH):c.3959C>G (p.Thr1320Ser)	XDH (T1320S)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 897348	NM_000379.4(XDH):c.3953G>A (p.Cys1318Tyr)	XDH (C1318Y)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 1230432	NM_000379.4(XDH):c.3952-221C>G	XDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 897349	NM_000379.4(XDH):c.3951+14C>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 2190348	NM_000379.4(XDH):c.3951+5G>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GUncertain significance
Select item 1927576	NM_000379.4(XDH):c.3943_3949dup (p.Leu1317fs)	XDH (L1317fs)	Duplication (frameshift variant)	Xanthinuria type II	GUncertain significance
Select item 1136807	NM_000379.4(XDH):c.3948C>T (p.Thr1316=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2301009	NM_000379.4(XDH):c.3942C>G (p.Phe1314Leu)	XDH (F1314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 335755	NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu)	XDH (K1313E)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 335756	NM_000379.4(XDH):c.3930C>T (p.Cys1310=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 1563275	NM_000379.4(XDH):c.3920G>A (p.Arg1307His)	XDH (R1307H)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 897350	NM_000379.4(XDH):c.3919C>T (p.Arg1307Cys)	XDH (R1307C)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 2914207	NM_000379.4(XDH):c.3908C>T (p.Pro1303Leu)	XDH (P1303L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 591923	NM_000379.4(XDH):c.3898C>G (p.Pro1300Ala)	XDH (P1300A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049003	NM_000379.4(XDH):c.3894C>G (p.Asp1298Glu)	XDH (D1298E)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 964201	NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln)	XDH (R1296Q)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898500	NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp)	XDH (R1296W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 335757	NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg)	XDH (K1292R)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GLikely benign
Select item 858637	NM_000379.4(XDH):c.3871G>A (p.Val1291Met)	XDH (V1291M)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GUncertain significance
Select item 2287034	NM_000379.4(XDH):c.3869A>G (p.Asn1290Ser)	XDH (N1290S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2090265	NM_000379.4(XDH):c.3867T>C (p.Asn1289=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 791699	NM_000379.4(XDH):c.3864T>C (p.Gly1288=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 335758	NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter)	XDH (R1283*)	Single nucleotide variant (nonsense)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 1001982	NM_000379.4(XDH):c.3838C>T (p.Arg1280Cys)	XDH (R1280C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2147410	NM_000379.4(XDH):c.3829G>C (p.Asp1277His)	XDH (D1277H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1959590	NM_000379.4(XDH):c.3822C>T (p.Ala1274=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 728792	NM_000379.4(XDH):c.3795C>T (p.Leu1265=)	XDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765186	NM_000379.4(XDH):c.3789G>A (p.Pro1263=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 3044587	NM_000379.4(XDH):c.3775-6G>T	XDH	Single nucleotide variant (intron variant)	XDH-related disorder	GLikely benign
Select item 2130905	NM_000379.4(XDH):c.3775-7T>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GUncertain significance
Select item 1267215	NM_000379.4(XDH):c.3775-268T>C	XDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328631	NM_000379.4(XDH):c.3774+32C>G	XDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912417	NM_000379.4(XDH):c.3774+17T>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 898501	NM_000379.4(XDH):c.3774+15G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 898502	NM_000379.4(XDH):c.3771G>A (p.Ser1257=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 2731122	NM_000379.4(XDH):c.3768A>T (p.Ala1256=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2041833	NM_000379.4(XDH):c.3764A>T (p.Tyr1255Phe)	XDH (Y1255F)	Single nucleotide variant (missense variant)	Xanthinuria type II	GLikely benign
Select item 3190986	NM_000379.4(XDH):c.3753G>C (p.Lys1251Asn)	XDH (K1251N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1620828	NM_000379.4(XDH):c.3738C>T (p.Arg1246=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 1409637	NM_000379.4(XDH):c.3737G>A (p.Arg1246His)	XDH (R1246H)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 572582	NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys)	XDH (R1246C)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GUncertain significance
Select item 255970	NM_000379.4(XDH):c.3717G>A (p.Glu1239=)	XDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 898503	NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe)	XDH (I1238F)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 2015541	NM_000379.4(XDH):c.3711del (p.Ile1238fs)	XDH (I1238fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 2197308	NM_000379.4(XDH):c.3693G>A (p.Pro1231=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign

<< First< Prev

Page of 8