SLC41A3[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 3164777	NM_017836.4(SLC41A3):c.*593C>G	SLC41A3 (A467G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411732	NM_017836.4(SLC41A3):c.*561G>T	SLC41A3 (L456F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536308	NM_017836.4(SLC41A3):c.*553G>A	SLC41A3 (V454M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319810	NM_017836.4(SLC41A3):c.*518T>G	SLC41A3 (L442R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164776	NM_017836.4(SLC41A3):c.*492G>T	SLC41A3 (R469S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1288070	NM_017836.4(SLC41A3):c.*207G>A	SLC41A3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3164775	NM_017836.4(SLC41A3):c.1331G>A (p.Cys444Tyr)	SLC41A3 (C327Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347096	NM_017836.4(SLC41A3):c.1291C>T (p.Arg431Trp)	SLC41A3 (R395W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253374	NM_017836.4(SLC41A3):c.1275C>G (p.Leu425=)	SLC41A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164774	NM_017836.4(SLC41A3):c.1214A>T (p.Gln405Leu)	SLC41A3 (Q288L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379862	NM_017836.4(SLC41A3):c.1160T>A (p.Leu387Gln)	SLC41A3 (L270Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303616	NM_017836.4(SLC41A3):c.1119G>A (p.Met373Ile)	SLC41A3 (M337I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461028	NM_017836.4(SLC41A3):c.1109T>C (p.Ile370Thr)	SLC41A3 (I370T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275158	NM_017836.4(SLC41A3):c.1105+297G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2243757	NM_017836.4(SLC41A3):c.1028T>C (p.Met343Thr)	SLC41A3 (M226T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475472	NM_017836.4(SLC41A3):c.994A>C (p.Ile332Leu)	SLC41A3 (I306L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319808	NM_017836.4(SLC41A3):c.992C>G (p.Ala331Gly)	SLC41A3 (A295G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599644	NM_017836.4(SLC41A3):c.968G>A (p.Cys323Tyr)	SLC41A3 (C206Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468711	NM_017836.4(SLC41A3):c.919G>A (p.Val307Ile)	SLC41A3 (V271I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304251	NM_017836.4(SLC41A3):c.874G>A (p.Ala292Thr)	SLC41A3 (A266T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228874	NM_017836.4(SLC41A3):c.859T>C (p.Phe287Leu)	SLC41A3 (F251L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523159	NM_017836.4(SLC41A3):c.851T>C (p.Phe284Ser)	SLC41A3 (F258S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332238	NM_017836.4(SLC41A3):c.834C>G (p.Ile278Met)	SLC41A3 (I161M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164781	NM_017836.4(SLC41A3):c.761C>T (p.Thr254Met)	SLC41A3 (T137M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369183	NM_017836.4(SLC41A3):c.662C>A (p.Ala221Asp)	SLC41A3 (A185D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455610	NM_017836.4(SLC41A3):c.634A>C (p.Lys212Gln)	SLC41A3 (K176Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373769	NM_017836.4(SLC41A3):c.632G>A (p.Arg211Gln)	SLC41A3 (R175Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211333	NM_017836.4(SLC41A3):c.610G>C (p.Val204Leu)	SLC41A3 (V178L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319807	NM_017836.4(SLC41A3):c.556G>T (p.Ala186Ser)	SLC41A3 (A150S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164779	NM_017836.4(SLC41A3):c.469G>A (p.Val157Met)	SLC41A3 (V131M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270595	NM_017836.4(SLC41A3):c.453+157T>C	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3319806	NM_017836.4(SLC41A3):c.427A>C (p.Ile143Leu)	SLC41A3 (I143L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353056	NM_017836.4(SLC41A3):c.398T>C (p.Ile133Thr)	SLC41A3 (I107T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272561	NM_017836.4(SLC41A3):c.382-267_382-266insT	SLC41A3	Insertion (intron variant)	not provided	GBenign
Select item 1288106	NM_017836.4(SLC41A3):c.381+332G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239456	NM_017836.4(SLC41A3):c.381+228del	SLC41A3	Deletion (intron variant)	not provided	GBenign
Select item 1221790	NM_017836.4(SLC41A3):c.381+29G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257714	NM_017836.4(SLC41A3):c.347T>C (p.Leu116Pro)	SLC41A3 (L90P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268597	NM_017836.4(SLC41A3):c.320C>T (p.Pro107Leu)	SLC41A3 (P107L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164778	NM_017836.4(SLC41A3):c.293A>G (p.Glu98Gly)	SLC41A3 (E98G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1241357	NM_017836.4(SLC41A3):c.274-248G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259676	NM_017836.4(SLC41A3):c.274-5535C>T	SLC41A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1271196	NM_017836.4(SLC41A3):c.274-5925C>T	SLC41A3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249470	NM_017836.4(SLC41A3):c.273+95C>T	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221999	NM_017836.4(SLC41A3):c.273+30C>T	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261828	NM_017836.4(SLC41A3):c.-27-37G>A	SLC41A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1704652	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3	ALDH1L1, KLF15 +5 more	Copy number gain	Chromosome 16 trisomy	GUncertain significance
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814477	GRCh37/hg19 3q21.2(chr3:125556637-125776173)x3	ROPN1B, SLC41A3	Copy number gain	not provided	GLikely benign
Select item 685939	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442544	GRCh37/hg19 3q21.2-21.3(chr3:124990032-126088215)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442219	GRCh37/hg19 3q21.2-21.3(chr3:124981934-126087100)x3	ALDH1L1, KLF15 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 65