SLC22A11[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042024	NM_018484.4(SLC22A11):c.5C>T (p.Ala2Val)	SLC22A11 (A2V)	Single nucleotide variant (missense variant)	SLC22A11-related disorder	GLikely benign
Select item 711553	NM_018484.4(SLC22A11):c.36C>T (p.Gly12=)	SLC22A11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725504	NM_018484.4(SLC22A11):c.63G>A (p.Val21=)	SLC22A11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2262732	NM_018484.4(SLC22A11):c.68C>T (p.Thr23Ile)	SLC22A11 (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163333	NM_018484.4(SLC22A11):c.130A>T (p.Ile44Phe)	SLC22A11 (I44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592693	NM_018484.4(SLC22A11):c.136G>A (p.Gly46Ser)	SLC22A11 (G46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038511	NM_018484.4(SLC22A11):c.142C>T (p.Arg48Ter)	SLC22A11 (R48*)	Single nucleotide variant (nonsense)	SLC22A11-related disorder	GLikely benign
Select item 2517198	NM_018484.4(SLC22A11):c.229G>A (p.Gly77Ser)	SLC22A11 (G77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527815	NM_018484.4(SLC22A11):c.244C>A (p.Pro82Thr)	SLC22A11 (P82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163336	NM_018484.4(SLC22A11):c.319G>A (p.Glu107Lys)	SLC22A11 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339640	NM_018484.4(SLC22A11):c.362G>T (p.Arg121Leu)	SLC22A11 (R121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541561	NM_018484.4(SLC22A11):c.367G>A (p.Val123Ile)	SLC22A11 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163337	NM_018484.4(SLC22A11):c.454G>A (p.Gly152Arg)	SLC22A11 (G152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218746	NM_018484.4(SLC22A11):c.512C>T (p.Pro171Leu)	SLC22A11 (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319059	NM_018484.4(SLC22A11):c.517C>A (p.Leu173Met)	SLC22A11 (L173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319058	NM_018484.4(SLC22A11):c.541G>T (p.Ala181Ser)	SLC22A11 (A181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053321	NM_018484.4(SLC22A11):c.549G>A (p.Ala183=)	SLC22A11	Single nucleotide variant (synonymous variant)	SLC22A11-related disorder	GLikely benign
Select item 2475428	NM_018484.4(SLC22A11):c.566T>C (p.Phe189Ser)	SLC22A11 (F189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392750	NM_018484.4(SLC22A11):c.598C>T (p.Arg200Trp)	SLC22A11 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163338	NM_018484.4(SLC22A11):c.625G>A (p.Gly209Ser)	SLC22A11 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600652	NM_018484.4(SLC22A11):c.717C>A (p.Ser239Arg)	SLC22A11 (S239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319056	NM_018484.4(SLC22A11):c.718G>A (p.Ala240Thr)	SLC22A11 (A240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388177	NM_018484.4(SLC22A11):c.718G>C (p.Ala240Pro)	SLC22A11 (A240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377425	NM_018484.4(SLC22A11):c.728C>T (p.Ala243Val)	SLC22A11 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255305	NM_018484.4(SLC22A11):c.838G>A (p.Ala280Thr)	SLC22A11 (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404728	NM_018484.4(SLC22A11):c.841C>T (p.Arg281Trp)	SLC22A11 (R281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608701	NM_018484.4(SLC22A11):c.938T>C (p.Ile313Thr)	SLC22A11 (I313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556260	NM_018484.4(SLC22A11):c.1018C>T (p.Pro340Ser)	SLC22A11 (P340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045043	NM_018484.4(SLC22A11):c.1028G>T (p.Arg343Leu)	SLC22A11 (R343L)	Single nucleotide variant (missense variant)	SLC22A11-related disorder	GLikely benign
Select item 3163331	NM_018484.4(SLC22A11):c.1042G>A (p.Ala348Thr)	SLC22A11 (A348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253259	NM_018484.4(SLC22A11):c.1076C>T (p.Ser359Phe)	SLC22A11 (S359F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273685	NM_018484.4(SLC22A11):c.1205G>A (p.Arg402His)	SLC22A11 (R402H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388376	NM_018484.4(SLC22A11):c.1277T>G (p.Leu426Trp)	SLC22A11 (L426W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163332	NM_018484.4(SLC22A11):c.1283C>A (p.Thr428Asn)	SLC22A11 (T428N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318452	NM_018484.4(SLC22A11):c.1289G>A (p.Arg430His)	SLC22A11 (R430H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534984	NM_018484.4(SLC22A11):c.1327A>T (p.Ile443Leu)	SLC22A11 (I443L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403858	NM_018484.4(SLC22A11):c.1388C>G (p.Thr463Arg)	SLC22A11 (T355R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508236	NM_018484.4(SLC22A11):c.1495G>A (p.Val499Ile)	SLC22A11 (V391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287430	NM_018484.4(SLC22A11):c.1556C>T (p.Pro519Leu)	SLC22A11 (P519L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163335	NM_018484.4(SLC22A11):c.1564G>A (p.Asp522Asn)	SLC22A11 (D414N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608854	NM_018484.4(SLC22A11):c.1576G>T (p.Asp526Tyr)	SLC22A11 (D418Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456681	NM_018484.4(SLC22A11):c.1615C>T (p.Arg539Trp)	SLC22A11 (R431W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 52