SLC22A25[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2216946	NM_199352.6(SLC22A25):c.1628G>A (p.Arg543Lys)	SLC22A25 (R543K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381211	NM_199352.6(SLC22A25):c.1571T>C (p.Leu524Pro)	SLC22A25 (L524P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476923	NM_199352.6(SLC22A25):c.1556G>C (p.Arg519Thr)	SLC22A25 (R519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623110	NM_199352.6(SLC22A25):c.1529T>C (p.Leu510Pro)	SLC22A25 (L510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528745	NM_199352.6(SLC22A25):c.1517T>C (p.Ile506Thr)	SLC22A25 (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467946	NM_199352.6(SLC22A25):c.1502A>G (p.Tyr501Cys)	SLC22A25 (Y501C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242806	NM_199352.6(SLC22A25):c.1469G>A (p.Ser490Asn)	SLC22A25 (S490N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319111	NM_199352.6(SLC22A25):c.1468A>G (p.Ser490Gly)	SLC22A25 (S490G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163450	NM_199352.6(SLC22A25):c.1439G>A (p.Gly480Glu)	SLC22A25 (G480E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319110	NM_199352.6(SLC22A25):c.1436G>A (p.Gly479Glu)	SLC22A25 (G479E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284671	NM_199352.6(SLC22A25):c.1423T>C (p.Phe475Leu)	SLC22A25 (F475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033084	NM_199352.6(SLC22A25):c.1399A>C (p.Arg467=)	SLC22A25	Single nucleotide variant (synonymous variant)	SLC22A25-related disorder	GLikely benign
Select item 2611967	NM_199352.6(SLC22A25):c.1387A>G (p.Ile463Val)	SLC22A25 (I463V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332449	NM_199352.6(SLC22A25):c.1256G>A (p.Cys419Tyr)	SLC22A25 (C419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230486	NM_199352.6(SLC22A25):c.1231C>A (p.Leu411Ile)	SLC22A25 (L411I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389719	NM_199352.6(SLC22A25):c.1227G>T (p.Gln409His)	SLC22A25 (Q409H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389717	NM_199352.6(SLC22A25):c.1226A>C (p.Gln409Pro)	SLC22A25 (Q409P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295080	NM_199352.6(SLC22A25):c.1136T>C (p.Phe379Ser)	SLC22A25 (F379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590821	NM_199352.6(SLC22A25):c.1112T>C (p.Leu371Pro)	SLC22A25 (L371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285418	NM_199352.6(SLC22A25):c.1093T>G (p.Trp365Gly)	SLC22A25 (W365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212536	NM_199352.6(SLC22A25):c.1051T>C (p.Cys351Arg)	SLC22A25 (C351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163456	NM_199352.6(SLC22A25):c.983T>C (p.Leu328Pro)	SLC22A25 (L328P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543094	NM_199352.6(SLC22A25):c.972G>T (p.Met324Ile)	SLC22A25 (M324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041581	NM_199352.6(SLC22A25):c.966C>A (p.Ser322=)	SLC22A25	Single nucleotide variant (synonymous variant)	SLC22A25-related disorder	GLikely benign
Select item 2329704	NM_199352.6(SLC22A25):c.949A>G (p.Met317Val)	SLC22A25 (M317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223898	NM_199352.6(SLC22A25):c.834G>C (p.Trp278Cys)	SLC22A25 (W278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163455	NM_199352.6(SLC22A25):c.789G>C (p.Leu263Phe)	SLC22A25 (L263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364687	NM_199352.6(SLC22A25):c.649A>G (p.Thr217Ala)	SLC22A25 (T217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319113	NM_199352.6(SLC22A25):c.629C>T (p.Thr210Ile)	SLC22A25 (T210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367610	NM_199352.6(SLC22A25):c.607C>T (p.Arg203Cys)	SLC22A25 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641898	NM_199352.6(SLC22A25):c.591C>T (p.Leu197=)	SLC22A25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456177	NM_199352.6(SLC22A25):c.569C>T (p.Ala190Val)	SLC22A25 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225634	NM_199352.6(SLC22A25):c.560G>A (p.Gly187Asp)	SLC22A25 (G187D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392097	NM_199352.6(SLC22A25):c.550G>A (p.Ala184Thr)	SLC22A25 (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047494	NM_199352.6(SLC22A25):c.541C>T (p.Leu181Phe)	SLC22A25 (L181F)	Single nucleotide variant (missense variant)	SLC22A25-related disorder	GLikely benign
Select item 3319112	NM_199352.6(SLC22A25):c.523G>A (p.Val175Met)	SLC22A25 (V175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035153	NM_199352.6(SLC22A25):c.506+8T>C	SLC22A25	Single nucleotide variant (intron variant)	SLC22A25-related disorder	GLikely benign
Select item 3163454	NM_199352.6(SLC22A25):c.505A>G (p.Arg169Gly)	SLC22A25 (R169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055757	NM_199352.6(SLC22A25):c.403-2A>G	SLC22A25	Single nucleotide variant (splice acceptor variant)	SLC22A25-related disorder	GBenign
Select item 3037649	NM_199352.6(SLC22A25):c.350dup (p.Asp118fs)	SLC22A25 (D118fs)	Duplication (frameshift variant)	SLC22A25-related disorder	GLikely benign
Select item 2379978	NM_199352.6(SLC22A25):c.302T>C (p.Leu101Pro)	SLC22A25 (L101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454676	NM_199352.6(SLC22A25):c.289A>G (p.Lys97Glu)	SLC22A25 (K97E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335127	NM_199352.6(SLC22A25):c.284A>G (p.Gln95Arg)	SLC22A25 (Q95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042459	NM_199352.6(SLC22A25):c.260A>T (p.Lys87Met)	SLC22A25 (K87M)	Single nucleotide variant (missense variant)	SLC22A25-related disorder	GLikely benign
Select item 2285419	NM_199352.6(SLC22A25):c.191C>T (p.Pro64Leu)	SLC22A25 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053052	NM_199352.6(SLC22A25):c.177C>A (p.Ile59=)	SLC22A25	Single nucleotide variant (synonymous variant)	SLC22A25-related disorder	GLikely benign
Select item 3163452	NM_199352.6(SLC22A25):c.160C>G (p.Leu54Val)	SLC22A25 (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163451	NM_199352.6(SLC22A25):c.143G>A (p.Arg48His)	SLC22A25 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033447	NM_199352.6(SLC22A25):c.94T>C (p.Tyr32His)	SLC22A25 (Y32H)	Single nucleotide variant (missense variant)	SLC22A25-related disorder	GLikely benign
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 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
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 1808080	GRCh37/hg19 11q12.3(chr11:62838127-63118199)x1	SLC22A10, SLC22A24 +1 more	Copy number loss	not provided	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 1340675	GRCh37/hg19 11q12.3(chr11:62782711-63122730)x3	SLC22A10, SLC22A24 +2 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980955	GRCh37/hg19 11q12.3(chr11:62714816-63383226)x3	LGALS12, SLC22A9 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563842	GRCh37/hg19 11q12.3(chr11:62782710-63104063)x3	SLC22A24, SLC22A10 +2 more	Copy number gain	not provided	GUncertain significance
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
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63