IRX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 147751	GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	ADAMTS16, ADAMTS16-DT +161 more	Copy number gain	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 148505	GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1	ADAMTS16, ADAMTS16-DT +88 more	Copy number loss	See cases	GPathogenic
Select item 151673	GRCh38/hg38 5p15.33-15.32(chr5:3057457-4922388)x1	IRX1, LINC01017 +18 more	Copy number loss	See cases	GUncertain significance
Select item 58069	GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3	ADAMTS16, ADAMTS16-DT +91 more	Copy number gain	See cases	GPathogenic
Select item 57222	GRCh38/hg38 5p15.33-15.32(chr5:3502990-4580491)x3	IRX1, LINC01017 +7 more	Copy number gain	See cases	GPathogenic
Select item 3110942	NM_024337.4(IRX1):c.40G>C (p.Ala14Pro)	IRX1 (A14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578972	NM_024337.4(IRX1):c.42C>G (p.Ala14=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286579	NM_024337.4(IRX1):c.44C>T (p.Ala15Val)	IRX1 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110943	NM_024337.4(IRX1):c.49C>T (p.Pro17Ser)	IRX1 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361500	NM_024337.4(IRX1):c.92C>T (p.Ala31Val)	IRX1 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518536	NM_024337.4(IRX1):c.94G>T (p.Ala32Ser)	IRX1 (A32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571214	NM_024337.4(IRX1):c.96T>G (p.Ala32=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2561393	NM_024337.4(IRX1):c.103G>T (p.Ala35Ser)	IRX1 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655280	NM_024337.4(IRX1):c.189G>A (p.Met63Ile)	IRX1 (M63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739499	NM_024337.4(IRX1):c.207G>A (p.Pro69=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302564	NM_024337.4(IRX1):c.211G>C (p.Ala71Pro)	IRX1 (A71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325097	NM_024337.4(IRX1):c.214G>C (p.Gly72Arg)	IRX1 (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535497	NM_024337.4(IRX1):c.218C>T (p.Ala73Val)	IRX1 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381642	NM_024337.4(IRX1):c.267C>A (p.Phe89Leu)	IRX1 (F89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307365	NM_024337.4(IRX1):c.275T>C (p.Met92Thr)	IRX1 (M92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767991	NM_024337.4(IRX1):c.318C>T (p.Pro106=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2546622	NM_024337.4(IRX1):c.356C>T (p.Pro119Leu)	IRX1 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474717	NM_024337.4(IRX1):c.504G>T (p.Lys168Asn)	IRX1 (K168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553036	NM_024337.4(IRX1):c.584C>T (p.Ala195Val)	IRX1 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033824	NM_024337.4(IRX1):c.738G>A (p.Glu246=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GLikely benign
Select item 3110944	NM_024337.4(IRX1):c.755C>T (p.Pro252Leu)	IRX1 (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338199	NM_024337.4(IRX1):c.761C>T (p.Ala254Val)	IRX1 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384359	NM_024337.4(IRX1):c.764C>T (p.Pro255Leu)	IRX1 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381397	NM_024337.4(IRX1):c.766G>C (p.Ala256Pro)	IRX1 (A256P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110945	NM_024337.4(IRX1):c.770C>A (p.Ala257Asp)	IRX1 (A257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272814	NM_024337.4(IRX1):c.772C>T (p.Pro258Ser)	IRX1 (P258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454880	NM_024337.4(IRX1):c.779C>G (p.Ala260Gly)	IRX1 (A260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034796	NM_024337.4(IRX1):c.780T>C (p.Ala260=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GLikely benign
Select item 3286578	NM_024337.4(IRX1):c.806T>G (p.Leu269Arg)	IRX1 (L269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326309	NM_024337.4(IRX1):c.820G>A (p.Val274Ile)	IRX1 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461128	NM_024337.4(IRX1):c.830C>T (p.Pro277Leu)	IRX1 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286580	NM_024337.4(IRX1):c.853G>A (p.Ala285Thr)	IRX1 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409745	NM_024337.4(IRX1):c.874G>A (p.Gly292Ser)	IRX1 (G292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760027	NM_024337.4(IRX1):c.915C>A (p.Gly305=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045718	NM_024337.4(IRX1):c.933C>T (p.His311=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GLikely benign
Select item 3038078	NM_024337.4(IRX1):c.960G>A (p.Ala320=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GBenign
Select item 3110946	NM_024337.4(IRX1):c.974G>C (p.Ser325Thr)	IRX1 (S325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530061	NM_024337.4(IRX1):c.1024G>C (p.Gly342Arg)	IRX1 (G342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522124	NM_024337.4(IRX1):c.1028C>A (p.Ala343Glu)	IRX1 (A343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259526	NM_024337.4(IRX1):c.1064C>T (p.Pro355Leu)	IRX1 (P355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058995	NM_024337.4(IRX1):c.1074G>A (p.Leu358=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GBenign
Select item 2547751	NM_024337.4(IRX1):c.1096T>A (p.Cys366Ser)	IRX1 (C366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709740	NM_024337.4(IRX1):c.1254T>A (p.Ile418=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2295233	NM_024337.4(IRX1):c.1271A>G (p.Asn424Ser)	IRX1 (N424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059417	NM_024337.4(IRX1):c.1272T>C (p.Asn424=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GBenign
Select item 3286577	NM_024337.4(IRX1):c.1283C>A (p.Ala428Asp)	IRX1 (A428D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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