SLC22A2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 774649	NM_003058.4(SLC22A2):c.1575C>A (p.Thr525=)	SLC22A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463513	NM_003058.4(SLC22A2):c.1572G>C (p.Glu524Asp)	SLC22A2 (E524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321124	NM_003058.4(SLC22A2):c.1415C>T (p.Ser472Leu)	SLC22A2 (S472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403917	NM_003058.4(SLC22A2):c.1390A>G (p.Asn464Asp)	SLC22A2 (N464D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250727	NM_003058.4(SLC22A2):c.1276G>A (p.Gly426Ser)	SLC22A2 (G426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657109	NM_003058.4(SLC22A2):c.1203C>T (p.Ile401=)	SLC22A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739414	NM_003058.4(SLC22A2):c.1194C>T (p.Ile398=)	SLC22A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304640	NM_003058.4(SLC22A2):c.1144T>G (p.Tyr382Asp)	SLC22A2 (Y382D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486348	NM_003058.4(SLC22A2):c.1118G>A (p.Gly373Asp)	SLC22A2 (G373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266277	NM_003058.4(SLC22A2):c.1105A>G (p.Met369Val)	SLC22A2 (M369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472591	NM_003058.4(SLC22A2):c.959G>A (p.Arg320His)	SLC22A2 (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358092	NM_003058.4(SLC22A2):c.958C>T (p.Arg320Cys)	SLC22A2 (R320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319096	NM_003058.4(SLC22A2):c.938C>T (p.Ser313Phe)	SLC22A2 (S313F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314815	NM_003058.4(SLC22A2):c.818A>T (p.Asn273Ile)	SLC22A2 (N273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163421	NM_003058.4(SLC22A2):c.772G>A (p.Ala258Thr)	SLC22A2 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460923	NM_003058.4(SLC22A2):c.740T>C (p.Val247Ala)	SLC22A2 (V247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319095	NM_003058.4(SLC22A2):c.692G>A (p.Arg231Gln)	SLC22A2 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489510	NM_003058.4(SLC22A2):c.691C>T (p.Arg231Trp)	SLC22A2 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406059	NM_003058.4(SLC22A2):c.680A>C (p.Glu227Ala)	SLC22A2 (E227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163420	NM_003058.4(SLC22A2):c.580A>G (p.Met194Val)	SLC22A2 (M194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218741	NM_003058.4(SLC22A2):c.472G>A (p.Val158Ile)	SLC22A2 (V158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522388	NM_003058.4(SLC22A2):c.434A>G (p.Asn145Ser)	SLC22A2 (N145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520211	NM_003058.4(SLC22A2):c.373G>A (p.Gly125Ser)	SLC22A2 (G125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319093	NM_003058.4(SLC22A2):c.368G>A (p.Arg123Gln)	SLC22A2 (R123Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400459	NM_003058.4(SLC22A2):c.362C>G (p.Pro121Arg)	SLC22A2 (P121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384575	NM_003058.4(SLC22A2):c.271C>T (p.Arg91Cys)	SLC22A2 (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328344	NM_003058.4(SLC22A2):c.245G>A (p.Gly82Asp)	SLC22A2 (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319094	NM_003058.4(SLC22A2):c.217T>C (p.Tyr73His)	SLC22A2 (Y73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592199	NM_003058.4(SLC22A2):c.215A>C (p.Asn72Thr)	SLC22A2 (N72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467902	NM_003058.4(SLC22A2):c.185G>A (p.Arg62His)	SLC22A2 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319092	NM_003058.4(SLC22A2):c.91G>A (p.Ala31Thr)	SLC22A2 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 979579	GRCh37/hg19 6q25.3(chr6:160593076-160644511)x1	SLC22A2	Copy number loss	not provided	GUncertain significance
Select item 814889	GRCh37/hg19 6q25.3(chr6:160587123-160666378)x1	SLC22A2	Copy number loss	not provided	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 563246	GRCh37/hg19 6q25.3-26(chr6:160524800-161855470)x3	SLC22A3, SLC22A2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 57