SLC22A25[gene] - ClinVar

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Items: 59

	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 3163450	NM_199352.6(SLC22A25):c.1439G>A (p.Gly480Glu)	SLC22A25 (G480E)	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 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 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 +1 more	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	ACTN3, ACY3 +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	GRIA4, GRIK4 +956 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	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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

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Items: 59