IRX6[gene] - ClinVar

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Items: 70

	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	LOC130059149, LOC130059150 +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	CRNDE, IRX5 +17 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia	GPathogenic
Select item 997021	NC_000016.10:g.54893325_55501091dup	CRNDE, IRX5 +15 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia	GPathogenic
Select item 2329732	NM_024335.3(IRX6):c.14A>G (p.His5Arg)	IRX6 (H5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347640	NM_024335.3(IRX6):c.23A>G (p.His8Arg)	IRX6 (H8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110981	NM_024335.3(IRX6):c.26C>G (p.Pro9Arg)	IRX6 (P9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212298	NM_024335.3(IRX6):c.41C>G (p.Ser14Cys)	IRX6 (S14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309316	NM_024335.3(IRX6):c.80G>T (p.Cys27Phe)	IRX6 (C27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372624	NM_024335.3(IRX6):c.94C>T (p.Arg32Cys)	IRX6 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486274	NM_024335.3(IRX6):c.131C>A (p.Ala44Glu)	IRX6 (A44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226385	NM_024335.3(IRX6):c.148G>A (p.Ala50Thr)	IRX6 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359391	NM_024335.3(IRX6):c.172G>A (p.Gly58Ser)	IRX6 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406559	NM_024335.3(IRX6):c.177T>A (p.Ser59Arg)	IRX6 (S59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277214	NM_024335.3(IRX6):c.205G>A (p.Gly69Ser)	IRX6 (G69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110980	NM_024335.3(IRX6):c.206G>A (p.Gly69Asp)	IRX6 (G69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265865	NM_024335.3(IRX6):c.273C>G (p.Ser91Arg)	IRX6 (S91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110982	NM_024335.3(IRX6):c.283C>T (p.Pro95Ser)	IRX6 (P95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110983	NM_024335.3(IRX6):c.367G>A (p.Ala123Thr)	IRX6 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110984	NM_024335.3(IRX6):c.395G>A (p.Gly132Glu)	IRX6 (G132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303840	NM_024335.3(IRX6):c.405A>T (p.Gln135His)	IRX6 (Q135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324867	NM_024335.3(IRX6):c.409G>A (p.Glu137Lys)	IRX6 (E137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110985	NM_024335.3(IRX6):c.428A>T (p.Glu143Val)	IRX6 (E143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110986	NM_024335.3(IRX6):c.439G>T (p.Ala147Ser)	IRX6 (A147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110987	NM_024335.3(IRX6):c.442G>A (p.Gly148Ser)	IRX6 (G129R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521404	NM_024335.3(IRX6):c.449G>C (p.Arg150Pro)	IRX6 (R150P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316441	NM_024335.3(IRX6):c.458C>T (p.Ala153Val)	IRX6 (A153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205525	NM_024335.3(IRX6):c.484A>G (p.Lys162Glu)	IRX6 (K162E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486550	NM_024335.3(IRX6):c.505C>T (p.Arg169Cys)	IRX6 (R169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110988	NM_024335.3(IRX6):c.518A>G (p.Tyr173Cys)	IRX6 (Y154C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265917	NM_024335.3(IRX6):c.557C>A (p.Thr186Asn)	IRX6 (T167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351893	NM_024335.3(IRX6):c.607C>T (p.Arg203Cys)	IRX6 (R184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511541	NM_024335.3(IRX6):c.608G>A (p.Arg203His)	IRX6 (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401170	NM_024335.3(IRX6):c.608G>T (p.Arg203Leu)	IRX6 (R184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321844	NM_024335.3(IRX6):c.645G>C (p.Lys215Asn)	IRX6 (K215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548701	NM_024335.3(IRX6):c.650A>G (p.Lys217Arg)	IRX6 (K217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472780	NM_024335.3(IRX6):c.688G>A (p.Asp230Asn)	IRX6 (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110989	NM_024335.3(IRX6):c.728C>T (p.Thr243Ile)	IRX6 (T243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394948	NM_024335.3(IRX6):c.814G>A (p.Glu272Lys)	IRX6 (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404045	NM_024335.3(IRX6):c.896C>T (p.Ala299Val)	IRX6 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110990	NM_024335.3(IRX6):c.898C>G (p.Arg300Gly)	IRX6 (R300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400162	NM_024335.3(IRX6):c.916C>G (p.Arg306Gly)	IRX6 (R306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491042	NM_024335.3(IRX6):c.956A>G (p.Asn319Ser)	IRX6 (N319S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265864	NM_024335.3(IRX6):c.1013G>A (p.Arg338Lys)	IRX6 (R338K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623785	NM_024335.3(IRX6):c.1075A>T (p.Thr359Ser)	IRX6 (T359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223834	NM_024335.3(IRX6):c.1081A>T (p.Ser361Cys)	IRX6 (S361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510375	NM_024335.3(IRX6):c.1094G>T (p.Gly365Val)	IRX6 (G365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110978	NM_024335.3(IRX6):c.1126C>G (p.Pro376Ala)	IRX6 (P376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110979	NM_024335.3(IRX6):c.1147G>C (p.Gly383Arg)	IRX6 (G383R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324933	NM_024335.3(IRX6):c.1202A>T (p.Asp401Val)	IRX6 (D401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353392	NM_024335.3(IRX6):c.1214G>A (p.Cys405Tyr)	IRX6 (C405Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426110	NC_000016.9:g.(?_53635988)_(55539614_?)del	FTO, IRX3 +4 more	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 70