SLC23A3[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 3319158	NM_001144889.2(SLC23A3):c.1798G>C (p.Glu600Gln)	SLC23A3 (E600Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163517	NM_001144889.2(SLC23A3):c.1675T>C (p.Cys559Arg)	SLC23A3 (C442R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163516	NM_001144889.2(SLC23A3):c.1579C>T (p.Pro527Ser)	SLC23A3 (P535S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319154	NM_001144889.2(SLC23A3):c.1553G>A (p.Arg518Gln)	SLC23A3 (R526Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594721	NM_001144889.2(SLC23A3):c.1507T>C (p.Ser503Pro)	SLC23A3 (S503P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163515	NM_001144889.2(SLC23A3):c.1367T>C (p.Ile456Thr)	SLC23A3 (I456T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269940	NM_001144889.2(SLC23A3):c.1343T>C (p.Ile448Thr)	SLC23A3 (I331T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316711	NM_001144889.2(SLC23A3):c.1210G>A (p.Val404Met)	SLC23A3 (V287M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234874	NM_001144889.2(SLC23A3):c.1142A>C (p.Asn381Thr)	SLC23A3 (N381T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399744	NM_001144889.2(SLC23A3):c.1040C>G (p.Pro347Arg)	SLC23A3 (P347R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319156	NM_001144889.2(SLC23A3):c.947C>T (p.Ala316Val)	SLC23A3 (A316V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570420	NM_001144889.2(SLC23A3):c.827T>C (p.Ile276Thr)	SLC23A3 (I276T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319155	NM_001144889.2(SLC23A3):c.788G>A (p.Arg263Gln)	SLC23A3 (G253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163519	NM_001144889.2(SLC23A3):c.755C>T (p.Thr252Met)	SLC23A3 (R242C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532122	NM_001144889.2(SLC23A3):c.754A>G (p.Thr252Ala)	SLC23A3 (T260A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3319153	NM_001144889.2(SLC23A3):c.679A>G (p.Ile227Val)	SLC23A3 (I227V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163518	NM_001144889.2(SLC23A3):c.671T>C (p.Leu224Ser)	SLC23A3 (L232S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520535	NM_001144889.2(SLC23A3):c.446G>A (p.Gly149Glu)	SLC23A3 (G149E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361209	NM_001144889.2(SLC23A3):c.395G>A (p.Arg132Gln)	SLC23A3 (R132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315077	NM_001144889.2(SLC23A3):c.392C>T (p.Pro131Leu)	SLC23A3 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767857	NM_001144889.2(SLC23A3):c.312G>C (p.Met104Ile)	SLC23A3 (M104I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2223928	NM_001144889.2(SLC23A3):c.37T>C (p.Ser13Pro)	SLC23A3 (S13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	SPEG, TMEM198 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980008	GRCh37/hg19 2q35(chr2:219797684-220088582)x3	CRYBA2, SLC23A3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 55