SLC22A23[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2391195	NM_015482.2(SLC22A23):c.2047A>T (p.Met683Leu)	SLC22A23 (M402L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470920	NM_015482.2(SLC22A23):c.2005G>C (p.Ala669Pro)	SLC22A23 (A372P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238284	NM_015482.2(SLC22A23):c.1979A>G (p.Asp660Gly)	SLC22A23 (D660G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319099	NM_015482.2(SLC22A23):c.1969G>A (p.Glu657Lys)	SLC22A23 (E657K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163429	NM_015482.2(SLC22A23):c.1931A>C (p.His644Pro)	SLC22A23 (H363P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605226	NM_015482.2(SLC22A23):c.1897G>A (p.Gly633Arg)	SLC22A23 (G336R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790986	NM_015482.2(SLC22A23):c.1737G>A (p.Ala579=)	SLC22A23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 792031	NM_015482.2(SLC22A23):c.1734C>T (p.Ser578=)	SLC22A23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2656186	NM_015482.2(SLC22A23):c.1695G>C (p.Thr565=)	SLC22A23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719434	NM_015482.2(SLC22A23):c.1695G>A (p.Thr565=)	SLC22A23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3163428	NM_015482.2(SLC22A23):c.1686C>G (p.Ile562Met)	SLC22A23 (I265M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470358	NM_015482.2(SLC22A23):c.1615G>A (p.Ala539Thr)	SLC22A23 (A258T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555514	NM_015482.2(SLC22A23):c.1584G>A (p.Met528Ile)	SLC22A23 (M247I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220643	NM_015482.2(SLC22A23):c.1575C>A (p.Asp525Glu)	SLC22A23 (D228E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163426	NM_015482.2(SLC22A23):c.1561A>T (p.Ser521Cys)	SLC22A23 (S224C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319102	NM_015482.2(SLC22A23):c.1397A>G (p.Tyr466Cys)	SLC22A23 (Y169C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557890	NM_015482.2(SLC22A23):c.1255G>A (p.Val419Met)	SLC22A23 (V419M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163425	NM_015482.2(SLC22A23):c.1252A>G (p.Ile418Val)	SLC22A23 (I121V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529883	NM_015482.2(SLC22A23):c.1231C>T (p.Arg411Trp)	SLC22A23 (R130W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163424	NM_015482.2(SLC22A23):c.1102C>T (p.Arg368Trp)	SLC22A23 (R368W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163423	NM_015482.2(SLC22A23):c.1066A>G (p.Met356Val)	SLC22A23 (M356V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163422	NM_015482.2(SLC22A23):c.1019G>A (p.Arg340Gln)	SLC22A23 (R59Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319098	NM_015482.2(SLC22A23):c.1009G>A (p.Ala337Thr)	SLC22A23 (A40T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278203	NM_015482.2(SLC22A23):c.940C>T (p.Arg314Trp)	SLC22A23 (R314W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219175	NM_015482.2(SLC22A23):c.895C>G (p.Leu299Val)	SLC22A23 (L299V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381855	NM_015482.2(SLC22A23):c.862T>G (p.Phe288Val)	SLC22A23 (F7V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544334	NM_015482.2(SLC22A23):c.861G>T (p.Arg287Ser)	SLC22A23 (R6S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255868	NM_015482.2(SLC22A23):c.799A>G (p.Ile267Val)	SLC22A23 (I267V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2373377	NM_015482.2(SLC22A23):c.770G>A (p.Arg257Gln)	SLC22A23 (R257Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 59497	GRCh38/hg38 6p25.2(chr6:3417286-4140023)x3	LOC643327, PRPF4B +31 more	Copy number gain	See cases	GUncertain significance
Select item 2407203	NM_015482.2(SLC22A23):c.650G>A (p.Ser217Asn)	LOC643327, SLC22A23 (S217N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319100	NM_015482.2(SLC22A23):c.635T>C (p.Val212Ala)	LOC643327, SLC22A23 (V212A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163431	NM_015482.2(SLC22A23):c.616G>C (p.Gly206Arg)	LOC643327, SLC22A23 (G206R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508276	NM_015482.2(SLC22A23):c.590A>G (p.Asn197Ser)	LOC643327, SLC22A23 (N197S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309189	NM_015482.2(SLC22A23):c.448G>C (p.Gly150Arg)	LOC643327, SLC22A23 (G150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402418	NM_015482.2(SLC22A23):c.447G>T (p.Met149Ile)	LOC643327, SLC22A23 (M149I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473049	NM_015482.2(SLC22A23):c.392C>T (p.Ala131Val)	LOC643327, SLC22A23 (A131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319101	NM_015482.2(SLC22A23):c.281G>T (p.Gly94Val)	LOC643327, SLC22A23 (G94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456798	NM_015482.2(SLC22A23):c.262C>T (p.Leu88Phe)	LOC643327, SLC22A23 (L88F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220673	NM_015482.2(SLC22A23):c.128G>A (p.Gly43Asp)	LOC643327, SLC22A23 (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619611	NM_015482.2(SLC22A23):c.118G>A (p.Gly40Arg)	LOC643327, SLC22A23 (G40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238164	NM_015482.2(SLC22A23):c.107C>G (p.Ala36Gly)	LOC643327, SLC22A23 (A36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615708	NM_015482.2(SLC22A23):c.40C>T (p.Pro14Ser)	LOC643327, SLC22A23 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250894	NM_015482.2(SLC22A23):c.14G>A (p.Arg5Gln)	LOC643327, SLC22A23 (R5Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349542	NM_015482.2(SLC22A23):c.7A>G (p.Ile3Val)	LOC643327, SLC22A23 (I3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1527216	GRCh37/hg19 6p25.2(chr6:3402953-3430487)	SLC22A23	Copy number loss	not specified	GUncertain significance
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 814776	GRCh37/hg19 6p25.2(chr6:3409111-3734008)x3	PXDC1, SLC22A23	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	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 443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	BPHL, C6orf201 +24 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	PXDC1, RIPK1 +24 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic

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Items: 99