SLC43A3[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2232283	NM_199329.3(SLC43A3):c.1455A>T (p.Glu485Asp)	SLC43A3 (E498D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164804	NM_199329.3(SLC43A3):c.1450A>G (p.Lys484Glu)	SLC43A3 (K497E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257716	NM_199329.3(SLC43A3):c.1441C>T (p.Arg481Cys)	SLC43A3 (R481C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618308	NM_199329.3(SLC43A3):c.1426G>A (p.Val476Ile)	SLC43A3 (V476I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487181	NM_199329.3(SLC43A3):c.1418C>T (p.Pro473Leu)	SLC43A3 (P486L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608898	NM_199329.3(SLC43A3):c.1349C>G (p.Ser450Cys)	SLC43A3 (S450C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319825	NM_199329.3(SLC43A3):c.1273C>T (p.Leu425Phe)	SLC43A3 (L438F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548381	NM_199329.3(SLC43A3):c.1228G>A (p.Ala410Thr)	SLC43A3 (A423T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486960	NM_199329.3(SLC43A3):c.1120C>G (p.Leu374Val)	SLC43A3 (L374V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289089	NM_199329.3(SLC43A3):c.1070C>A (p.Thr357Asn)	SLC43A3 (T370N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240335	NM_199329.3(SLC43A3):c.1015A>T (p.Met339Leu)	SLC43A3 (M339L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480117	NM_199329.3(SLC43A3):c.973A>G (p.Thr325Ala)	SLC43A3 (T325A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411400	NM_199329.3(SLC43A3):c.941G>A (p.Arg314Gln)	SLC43A3 (R314Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541499	NM_199329.3(SLC43A3):c.917A>G (p.Asn306Ser)	SLC43A3 (N306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340600	NM_199329.3(SLC43A3):c.824T>G (p.Phe275Cys)	SLC43A3 (F275C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293717	NM_199329.3(SLC43A3):c.806C>T (p.Ser269Phe)	SLC43A3 (S282F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464524	NM_199329.3(SLC43A3):c.761C>T (p.Ala254Val)	SLC43A3 (A267V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353225	NM_199329.3(SLC43A3):c.735G>T (p.Glu245Asp)	SLC43A3 (E245D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319826	NM_199329.3(SLC43A3):c.664A>C (p.Ser222Arg)	SLC43A3 (S235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411794	NM_199329.3(SLC43A3):c.656C>G (p.Pro219Arg)	SLC43A3 (P219R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164806	NM_199329.3(SLC43A3):c.628C>T (p.Arg210Trp)	SLC43A3 (R210W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164805	NM_199329.3(SLC43A3):c.509C>T (p.Ser170Leu)	SLC43A3 (S183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309288	NM_199329.3(SLC43A3):c.488A>G (p.Asn163Ser)	SLC43A3 (N176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776611	NM_199329.3(SLC43A3):c.361+3G>T	SLC43A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2266583	NM_199329.3(SLC43A3):c.353C>G (p.Thr118Ser)	SLC43A3 (T131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319824	NM_199329.3(SLC43A3):c.343A>G (p.Ile115Val)	SLC43A3 (I115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606992	NM_199329.3(SLC43A3):c.295G>A (p.Val99Met)	LOC126861213, SLC43A3 (V112M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594365	NM_199329.3(SLC43A3):c.281G>A (p.Arg94Gln)	LOC126861213, SLC43A3 (R107Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208726	NM_199329.3(SLC43A3):c.271A>T (p.Ile91Phe)	LOC126861213, SLC43A3 (I104F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326756	NM_199329.3(SLC43A3):c.94T>G (p.Ser32Ala)	LOC126861213, SLC43A3 (S32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254043	NM_199329.3(SLC43A3):c.26A>T (p.His9Leu)	LOC126861213, SLC43A3 (H9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394688	GRCh37/hg19 11q12.1(chr11:57182779-57244361)x3	RTN4RL2, SLC43A3	Copy number gain	See cases	GUncertain significance

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Items: 49