SUOX[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 477

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 309820	NM_000456.2(SUOX):c.-326A>T	SUOX	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 309821	NM_000456.2(SUOX):c.-322C>T	SUOX	Single nucleotide variant	Sulfite oxidase deficiency	GUncertain significance
Select item 883740	NM_001032386.2(SUOX):c.-129A>G	SUOX	Single nucleotide variant (5 prime UTR variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 883741	NM_001032386.2(SUOX):c.-107C>T	SUOX	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency	GBenign
Select item 309822	NM_001032386.2(SUOX):c.-85G>A	SUOX	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency	GUncertain significance
Select item 309823	NM_001032386.2(SUOX):c.-58C>A	SUOX	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency	GUncertain significance
Select item 309824	NM_001032386.2(SUOX):c.-32C>T	SUOX	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency	GBenign
Select item 309825	NM_001032386.2(SUOX):c.-25G>C	SUOX	Single nucleotide variant (5 prime UTR variant +1 more)	Sulfite oxidase deficiency	GUncertain significance
Select item 309826	NM_001032386.2(SUOX):c.-11+1604T>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 309827	NM_001032386.2(SUOX):c.-11+1613C>T	SUOX	Single nucleotide variant (intron variant +1 more)	Sulfite oxidase deficiency	GLikely benign
Select item 309828	NM_001032386.2(SUOX):c.-11+1672T>A	SUOX	Single nucleotide variant (intron variant +1 more)	Sulfite oxidase deficiency	GUncertain significance
Select item 309829	NM_001032386.2(SUOX):c.-11+1723G>A	SUOX	Single nucleotide variant (intron variant +1 more)	Sulfite oxidase deficiency	GUncertain significance
Select item 728492	NM_001032386.2(SUOX):c.19G>A (p.Ala7Thr)	SUOX (A7T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 309830	NM_001032386.2(SUOX):c.23T>C (p.Val8Ala)	SUOX (V8A)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1541265	NM_001032386.2(SUOX):c.24G>A (p.Val8=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2009497	NM_001032386.2(SUOX):c.29T>C (p.Leu10Pro)	SUOX (L10P)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 2824409	NM_001032386.2(SUOX):c.37C>T (p.Gln13Ter)	SUOX (Q13*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 2915227	NM_001032386.2(SUOX):c.39A>G (p.Gln13=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1006359	NM_001032386.2(SUOX):c.40C>A (p.Gln14Lys)	SUOX (Q14K)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 2820859	NM_001032386.2(SUOX):c.42G>A (p.Gln14=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2840154	NM_001032386.2(SUOX):c.49dup (p.Arg17fs)	SUOX (R17fs)	Duplication (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 1448237	NM_001032386.2(SUOX):c.50+5G>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1607636	NM_001032386.2(SUOX):c.50+9G>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 309831	NM_001032386.2(SUOX):c.50+9G>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GConflicting classifications of pathogenicity
Select item 1548050	NM_001032386.2(SUOX):c.50+13A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2791052	NM_001032386.2(SUOX):c.50+15C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2184537	NM_001032386.2(SUOX):c.50+18A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1607225	NM_001032386.2(SUOX):c.50+20G>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2827199	NM_001032386.2(SUOX):c.51-17A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1584315	NM_001032386.2(SUOX):c.51-16C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3016395	NM_001032386.2(SUOX):c.51-15C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2702925	NM_001032386.2(SUOX):c.51-15C>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2803653	NM_001032386.2(SUOX):c.51-14G>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 881842	NM_001032386.2(SUOX):c.51-14G>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GConflicting classifications of pathogenicity
Select item 1983642	NM_001032386.2(SUOX):c.51-10T>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1632535	NM_001032386.2(SUOX):c.51-7C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2577290	NM_001032386.2(SUOX):c.51-2A>C	SUOX	Single nucleotide variant (splice acceptor variant)	Sulfocysteinuria	GLikely pathogenic
Select item 1002776	NM_001032386.2(SUOX):c.61A>G (p.Ile21Val)	SUOX (I21V)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 1514452	NM_001032386.2(SUOX):c.66_68del (p.Ser23del)	SUOX (S23del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2869330	NM_001032386.2(SUOX):c.72G>A (p.Arg24=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2801200	NM_001032386.2(SUOX):c.81T>C (p.Ile27=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2902496	NM_001032386.2(SUOX):c.87C>G (p.Ala29=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2850445	NM_001032386.2(SUOX):c.87C>T (p.Ala29=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 881843	NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser)	SUOX (C30S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1414343	NM_001032386.2(SUOX):c.90C>A (p.Cys30Ter)	SUOX (C30*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 1464769	NM_001032386.2(SUOX):c.95C>T (p.Thr32Ile)	SUOX (T32I)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 529474	NM_001032386.2(SUOX):c.98del (p.Asn33fs)	SUOX (N33fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2788389	NM_001032386.2(SUOX):c.119_126del (p.Arg40fs)	SUOX (R40fs)	Microsatellite (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 1068910	NM_001032386.2(SUOX):c.115C>T (p.Gln39Ter)	SUOX (Q39*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 1443544	NM_001032386.2(SUOX):c.118C>T (p.Arg40Cys)	SUOX (R40C)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 645240	NM_001032386.2(SUOX):c.119G>A (p.Arg40His)	SUOX (R40H)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GBenign/Likely benign
Select item 2124058	NM_001032386.2(SUOX):c.141dup (p.Asp48Ter)	SUOX (D48*)	Duplication (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 1052177	NM_001032386.2(SUOX):c.140G>A (p.Gly47Asp)	SUOX (G47D)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1383872	NM_001032386.2(SUOX):c.142_145dup (p.Asn49delinsArgTer)	SUOX	Duplication (nonsense)	Sulfite oxidase deficiency +1 more	GPathogenic
Select item 2148387	NM_001032386.2(SUOX):c.147C>T (p.Asn49=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1452891	NM_001032386.2(SUOX):c.150C>T (p.Ser50=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3012121	NM_001032386.2(SUOX):c.153C>T (p.Ser51=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1921479	NM_001032386.2(SUOX):c.156C>G (p.Thr52=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3022274	NM_001032386.2(SUOX):c.159G>A (p.Gln53=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1398673	NM_001032386.2(SUOX):c.160G>A (p.Gly54Arg)	SUOX (G54R)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1914928	NM_001032386.2(SUOX):c.161G>A (p.Gly54Glu)	SUOX (G54E)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 2806169	NM_001032386.2(SUOX):c.162A>T (p.Gly54=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2767938	NM_001032386.2(SUOX):c.162A>G (p.Gly54=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 792838	NM_001032386.2(SUOX):c.177G>C (p.Gly59=)	SUOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159893	NM_001032386.2(SUOX):c.179C>T (p.Thr60Ile)	SUOX (T60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 568542	NM_001032386.2(SUOX):c.186A>T (p.Leu62Phe)	SUOX (L62F)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1464332	NM_001032386.2(SUOX):c.187G>A (p.Gly63Ser)	SUOX (G63S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 309832	NM_001032386.2(SUOX):c.192C>T (p.Leu64=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GConflicting classifications of pathogenicity
Select item 1005650	NM_001032386.2(SUOX):c.193G>A (p.Gly65Ser)	SUOX (G65S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2116109	NM_001032386.2(SUOX):c.194G>A (p.Gly65Asp)	SUOX (G65D)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 836283	NM_001032386.2(SUOX):c.199G>C (p.Val67Leu)	SUOX (V67L)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GUncertain significance
Select item 2718184	NM_001032386.2(SUOX):c.207dup (p.Tyr70fs)	SUOX (Y70fs)	Duplication (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 1410729	NM_001032386.2(SUOX):c.215_222del (p.Asp72fs)	SUOX (D72fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2758785	NM_001032386.2(SUOX):c.216C>T (p.Asp72=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1415410	NM_001032386.2(SUOX):c.218A>G (p.His73Arg)	SUOX (H73R)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 1449504	NM_001032386.2(SUOX):c.220C>T (p.Arg74Trp)	SUOX (R74W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035358	NM_001032386.2(SUOX):c.221G>A (p.Arg74Gln)	SUOX (R74Q)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 2738325	NM_001032386.2(SUOX):c.228+2_228+10del	SUOX	Deletion (splice donor variant)	Sulfite oxidase deficiency	GPathogenic/Likely pathogenic
Select item 309833	NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)	SUOX (R76S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 856291	NM_001032386.2(SUOX):c.228+1G>A	SUOX	Single nucleotide variant (splice donor variant)	Sulfite oxidase deficiency	GPathogenic
Select item 2023942	NM_001032386.2(SUOX):c.228+9G>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2783170	NM_001032386.2(SUOX):c.228+12A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2797628	NM_001032386.2(SUOX):c.228+13A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2703177	NM_001032386.2(SUOX):c.228+13A>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2797355	NM_001032386.2(SUOX):c.228+16G>A	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1242461	NM_001032386.2(SUOX):c.228+268A>G	SUOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2753188	NM_001032386.2(SUOX):c.229-18C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2724397	NM_001032386.2(SUOX):c.229-16C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1572784	NM_001032386.2(SUOX):c.229-15C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2782372	NM_001032386.2(SUOX):c.229-14T>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2873245	NM_001032386.2(SUOX):c.229-13T>C	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1575826	NM_001032386.2(SUOX):c.229-13_229-11del	SUOX	Deletion (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 3007924	NM_001032386.2(SUOX):c.229-11C>T	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2866045	NM_001032386.2(SUOX):c.229-5A>G	SUOX	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency	GLikely benign
Select item 1399892	NM_001032386.2(SUOX):c.237G>C (p.Gln79His)	SUOX (Q79H)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 2794068	NM_001032386.2(SUOX):c.240G>A (p.Glu80=)	SUOX	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency	GLikely benign
Select item 2862437	NM_001032386.2(SUOX):c.242_243insTT (p.Ser81_Thr82insTer)	SUOX	Insertion (frameshift variant)	Sulfite oxidase deficiency	GPathogenic

<< First< Prev

Page of 5