SLC22A3[gene] - ClinVar

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Items: 67

	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 1241019	NM_021977.4(SLC22A3):c.-29G>A	SLC22A3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2534579	NM_021977.4(SLC22A3):c.32T>C (p.Val11Ala)	SLC22A3 (V11A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163457	NM_021977.4(SLC22A3):c.116T>C (p.Val39Ala)	SLC22A3 (V39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534575	NM_021977.4(SLC22A3):c.169G>A (p.Ala57Thr)	SLC22A3 (A57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529950	NM_021977.4(SLC22A3):c.181G>C (p.Glu61Gln)	SLC22A3 (E61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248482	NM_021977.4(SLC22A3):c.204G>C (p.Glu68Asp)	SLC22A3 (E68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534576	NM_021977.4(SLC22A3):c.232T>C (p.Ser78Pro)	SLC22A3 (S78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534577	NM_021977.4(SLC22A3):c.233C>G (p.Ser78Cys)	SLC22A3 (S78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534578	NM_021977.4(SLC22A3):c.236G>T (p.Arg79Leu)	SLC22A3 (R79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598774	NM_021977.4(SLC22A3):c.247C>T (p.Pro83Ser)	SLC22A3 (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739756	NM_021977.4(SLC22A3):c.258C>G (p.Arg86=)	SLC22A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300852	NM_021977.4(SLC22A3):c.286G>C (p.Glu96Gln)	SLC22A3 (E96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319114	NM_021977.4(SLC22A3):c.314C>G (p.Thr105Ser)	SLC22A3 (T105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 1285845	NM_021977.4(SLC22A3):c.430-10863C>T	SLC22A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2530312	NM_021977.4(SLC22A3):c.439G>C (p.Val147Leu)	SLC22A3 (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163462	NM_021977.4(SLC22A3):c.457A>C (p.Met153Leu)	SLC22A3 (M153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368798	NM_021977.4(SLC22A3):c.634C>T (p.Arg212Cys)	SLC22A3 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313345	NM_021977.4(SLC22A3):c.650T>A (p.Val217Glu)	SLC22A3 (V217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272690	NM_021977.4(SLC22A3):c.652T>A (p.Phe218Ile)	SLC22A3 (F218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163463	NM_021977.4(SLC22A3):c.707C>T (p.Ser236Leu)	SLC22A3 (S236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163464	NM_021977.4(SLC22A3):c.733G>A (p.Val245Met)	SLC22A3 (V245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621142	NM_021977.4(SLC22A3):c.775G>A (p.Gly259Arg)	SLC22A3 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525696	NM_021977.4(SLC22A3):c.787T>C (p.Phe263Leu)	SLC22A3 (F263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361073	NM_021977.4(SLC22A3):c.797A>G (p.Asn266Ser)	SLC22A3 (N266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319116	NM_021977.4(SLC22A3):c.801G>T (p.Trp267Cys)	SLC22A3 (W267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262877	NM_021977.4(SLC22A3):c.824C>T (p.Thr275Met)	SLC22A3 (T275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353434	NM_021977.4(SLC22A3):c.892C>T (p.Arg298Trp)	SLC22A3 (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458894	NM_021977.4(SLC22A3):c.1042A>T (p.Arg348Trp)	SLC22A3 (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509759	NM_021977.4(SLC22A3):c.1111C>A (p.Arg371Ser)	SLC22A3 (R371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319115	NM_021977.4(SLC22A3):c.1112G>A (p.Arg371His)	SLC22A3 (R371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358262	NM_021977.4(SLC22A3):c.1124T>G (p.Ile375Arg)	SLC22A3 (I375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403662	NM_021977.4(SLC22A3):c.1132A>G (p.Asn378Asp)	SLC22A3 (N378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163459	NM_021977.4(SLC22A3):c.1202T>C (p.Ile401Thr)	SLC22A3 (I401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215973	NM_021977.4(SLC22A3):c.1220G>T (p.Arg407Leu)	SLC22A3 (R407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264425	NM_021977.4(SLC22A3):c.1233G>A (p.Ala411=)	SLC22A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2493429	NM_021977.4(SLC22A3):c.1495C>T (p.Pro499Ser)	SLC22A3 (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163460	NM_021977.4(SLC22A3):c.1496C>T (p.Pro499Leu)	SLC22A3 (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224339	NM_021977.4(SLC22A3):c.1514T>C (p.Ile505Thr)	SLC22A3 (I505T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527628	NM_021977.4(SLC22A3):c.1599A>T (p.Glu533Asp)	SLC22A3 (E533D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163461	NM_021977.4(SLC22A3):c.1634G>C (p.Arg545Thr)	SLC22A3 (R545T)	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	LPA, MAP3K4 +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 1527318	GRCh37/hg19 6q25.3-26(chr6:160778308-161898925)	AGPAT4, LPA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 687342	GRCh37/hg19 6q25.3(chr6:160789886-160897318)x1	SLC22A3	Copy number loss	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: 67