14361[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 997022	NC_000016.10:g.54801236_55533834dup	IRX6, LOC130059039 +17 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia +1 more	GPathogenic
Select item 997021	NC_000016.10:g.54893325_55501091dup	CRNDE, IRX5 +15 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia +1 more	GPathogenic
Select item 1251399	NM_005853.6(IRX5):c.-235A>G	IRX5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3045690	NM_005853.6(IRX5):c.22T>C (p.Leu8=)	IRX5	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 2487466	NM_005853.6(IRX5):c.56C>T (p.Ser19Leu)	IRX5 (S19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110968	NM_005853.6(IRX5):c.113G>T (p.Arg38Leu)	IRX5 (R38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190244	NM_005853.6(IRX5):c.162C>T (p.Phe54=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276998	NM_005853.6(IRX5):c.176C>A (p.Pro59Gln)	IRX5 (P59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256988	NM_005853.6(IRX5):c.200A>G (p.Tyr67Cys)	IRX5 (Y67C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204383	NM_005853.6(IRX5):c.202G>A (p.Gly68Ser)	IRX5 (G68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2899673	NM_005853.6(IRX5):c.204C>A (p.Gly68=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037463	NM_005853.6(IRX5):c.219C>T (p.Ala73=)	IRX5	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 374378	NM_005853.6(IRX5):c.237CTC[1] (p.Ser81del)	IRX5 (S81del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1181544	NM_005853.6(IRX5):c.249+182C>G	IRX5, LOC126862355	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2472174	NM_005853.6(IRX5):c.257C>T (p.Pro86Leu)	IRX5, LOC126862355 (P86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2029262	NM_005853.6(IRX5):c.261C>T (p.Tyr87=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617997	NM_005853.6(IRX5):c.265C>A (p.His89Asn)	IRX5, LOC126862355 (H89N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745999	NM_005853.6(IRX5):c.270A>T (p.Thr90=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747560	NM_005853.6(IRX5):c.357C>T (p.Asn119=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750349	NM_005853.6(IRX5):c.381C>T (p.Thr127=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475494	NM_005853.6(IRX5):c.388G>A (p.Ala130Thr)	IRX5, LOC126862355 (A130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265425	NM_005853.6(IRX5):c.399C>G (p.Asn133Lys)	IRX5, LOC126862355 (N133K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2096588	NM_005853.6(IRX5):c.420C>T (p.Tyr140=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800011	NM_005853.6(IRX5):c.438G>A (p.Lys146=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31911	NM_005853.6(IRX5):c.448G>C (p.Ala150Pro)	IRX5, LOC126862355 (A150P)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 31910	NM_005853.6(IRX5):c.498C>A (p.Asn166Lys)	IRX5, LOC126862355 (N166K)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 728801	NM_005853.6(IRX5):c.501G>A (p.Ala167=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695336	NM_005853.6(IRX5):c.503G>A (p.Arg168His)	IRX5, LOC126862355 (R168H)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 2227721	NM_005853.6(IRX5):c.520G>C (p.Glu174Gln)	IRX5, LOC126862355 (E174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053246	NM_005853.6(IRX5):c.549C>T (p.Asn183=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 723491	NM_005853.6(IRX5):c.567A>G (p.Glu189=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271769	NM_005853.6(IRX5):c.637C>T (p.Pro213Ser)	IRX5 (P213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2032194	NM_005853.6(IRX5):c.674C>G (p.Ala225Gly)	IRX5 (A224G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646534	NM_005853.6(IRX5):c.681G>T (p.Ser227=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141426	NM_005853.6(IRX5):c.681G>A (p.Ser227=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717633	NM_005853.6(IRX5):c.691C>G (p.Arg231Gly)	IRX5 (R231G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2319589	NM_005853.6(IRX5):c.692G>A (p.Arg231Gln)	IRX5 (R231Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110969	NM_005853.6(IRX5):c.701G>A (p.Gly234Glu)	IRX5 (G233E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038790	NM_005853.6(IRX5):c.707C>T (p.Pro236Leu)	IRX5 (P235L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2230775	NM_005853.6(IRX5):c.712C>T (p.Pro238Ser)	IRX5 (P237S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110970	NM_005853.6(IRX5):c.713C>T (p.Pro238Leu)	IRX5 (P237L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739954	NM_005853.6(IRX5):c.717A>G (p.Ala239=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286597	NM_005853.6(IRX5):c.752A>G (p.Asp251Gly)	IRX5 (D250G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221607	NM_005853.6(IRX5):c.760G>A (p.Glu254Lys)	IRX5 (E254K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1183410	NM_005853.6(IRX5):c.763C>A (p.Pro255Thr)	IRX5 (P254T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 748620	NM_005853.6(IRX5):c.777C>T (p.Gly259=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141429	NM_005853.6(IRX5):c.778C>A (p.Arg260Ser)	IRX5 (R259S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2646535	NM_005853.6(IRX5):c.783C>G (p.Leu261=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726138	NM_005853.6(IRX5):c.787G>C (p.Ala263Pro)	IRX5 (A263P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2478583	NM_005853.6(IRX5):c.796G>C (p.Gly266Arg)	IRX5 (G266R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379897	NM_005853.6(IRX5):c.797G>C (p.Gly266Ala)	IRX5 (G266A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481700	NM_005853.6(IRX5):c.800C>A (p.Pro267His)	IRX5 (P266H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696590	NM_005853.6(IRX5):c.800C>G (p.Pro267Arg)	IRX5 (P266R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3110972	NM_005853.6(IRX5):c.805C>G (p.Arg269Gly)	IRX5 (R268G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329730	NM_005853.6(IRX5):c.805C>A (p.Arg269Ser)	IRX5 (R268S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110973	NM_005853.6(IRX5):c.823C>G (p.Pro275Ala)	IRX5 (P275A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568079	NM_005853.6(IRX5):c.824C>G (p.Pro275Arg)	IRX5 (P274R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312987	NM_005853.6(IRX5):c.827C>T (p.Ala276Val)	IRX5 (A275V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610649	NM_005853.6(IRX5):c.829G>C (p.Gly277Arg)	IRX5 (G276R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034152	NM_005853.6(IRX5):c.837G>C (p.Ala279=)	IRX5	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 2233822	NM_005853.6(IRX5):c.847C>G (p.Leu283Val)	IRX5 (L282V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394364	NM_005853.6(IRX5):c.848T>G (p.Leu283Arg)	IRX5 (L283R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228790	NM_005853.6(IRX5):c.851C>G (p.Ala284Gly)	IRX5 (A283G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396032	NM_005853.6(IRX5):c.854A>G (p.Glu285Gly)	IRX5 (E284G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110974	NM_005853.6(IRX5):c.862G>A (p.Ala288Thr)	IRX5 (A287T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467892	NM_005853.6(IRX5):c.875C>A (p.Pro292His)	IRX5 (P292H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777029	NM_005853.6(IRX5):c.876C>T (p.Pro292=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2988658	NM_005853.6(IRX5):c.879C>T (p.Ala293=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042258	NM_005853.6(IRX5):c.887C>A (p.Pro296Gln)	IRX5 (P296Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032363	NM_005853.6(IRX5):c.896G>A (p.Gly299Asp)	IRX5 (G298D +1 more)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GUncertain significance
Select item 3110975	NM_005853.6(IRX5):c.898C>T (p.Pro300Ser)	IRX5 (P299S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782411	NM_005853.6(IRX5):c.918G>A (p.Glu306=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712396	NM_005853.6(IRX5):c.930T>G (p.Gly310=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370663	NM_005853.6(IRX5):c.931C>T (p.Pro311Ser)	IRX5 (P311S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110977	NM_005853.6(IRX5):c.934G>T (p.Gly312Cys)	IRX5 (G312C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110976	NM_005853.6(IRX5):c.934G>A (p.Gly312Ser)	IRX5 (G312S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551353	NM_005853.6(IRX5):c.944C>T (p.Ser315Leu)	IRX5 (S314L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336312	NM_005853.6(IRX5):c.976C>T (p.Pro326Ser)	IRX5 (P325S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050829	NM_005853.6(IRX5):c.987C>A (p.Leu329=)	IRX5	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 710235	NM_005853.6(IRX5):c.1029G>C (p.Ser343=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723492	NM_005853.6(IRX5):c.1038G>A (p.Lys346=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482190	NM_005853.6(IRX5):c.1052G>A (p.Gly351Asp)	IRX5 (G351D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745877	NM_005853.6(IRX5):c.1092G>A (p.Gly364=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2158559	NM_005853.6(IRX5):c.1141G>A (p.Ala381Thr)	IRX5 (A380T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 714702	NM_005853.6(IRX5):c.1145C>G (p.Pro382Arg)	IRX5 (P381R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2485851	NM_005853.6(IRX5):c.1157C>G (p.Pro386Arg)	IRX5 (P385R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1920971	NM_005853.6(IRX5):c.1183G>A (p.Gly395Arg)	IRX5 (G395R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041112	NM_005853.6(IRX5):c.1188G>A (p.Thr396=)	IRX5	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 731657	NM_005853.6(IRX5):c.1203T>G (p.Pro401=)	IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063931	NM_005853.6(IRX5):c.1265A>G (p.His422Arg)	IRX5 (H422R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2462306	NM_005853.6(IRX5):c.1277G>A (p.Gly426Glu)	IRX5 (G426E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540477	NM_005853.6(IRX5):c.1285C>G (p.Pro429Ala)	IRX5 (P429A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286596	NM_005853.6(IRX5):c.1292C>T (p.Pro431Leu)	IRX5 (P430L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401953	NM_005853.6(IRX5):c.1303C>A (p.Pro435Thr)	IRX5 (P434T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2010672	NM_005853.6(IRX5):c.1312C>T (p.His438Tyr)	IRX5 (H437Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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