6129[HGNC] - 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 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	See cases	GPathogenic
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 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 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 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 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 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 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 148401	GRCh38/hg38 5p15.33(chr5:1495239-2191346)x3	CTD-2194D22.4, IRX4 +37 more	Copy number gain	See cases	GUncertain significance
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 148985	GRCh38/hg38 5p15.33(chr5:1719148-2258986)x3	LOC123493261, LOC124901163 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1257512	NM_016358.3(IRX4):c.*62C>T	IRX4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3286591	NM_016358.3(IRX4):c.1488C>A (p.Asp496Glu)	IRX4 (D496E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272678	NM_016358.3(IRX4):c.1431C>T (p.Gly477=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308027	NM_016358.3(IRX4):c.1406C>T (p.Pro469Leu)	IRX4 (P469L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295042	NM_016358.3(IRX4):c.1390C>T (p.Leu464Phe)	IRX4 (L490F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345710	NM_016358.3(IRX4):c.1382A>G (p.Lys461Arg)	IRX4 (K461R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236622	NM_016358.3(IRX4):c.1292C>T (p.Pro431Leu)	IRX4 (P431L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315203	NM_016358.3(IRX4):c.1278G>T (p.Arg426Ser)	IRX4 (R452S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286590	NM_016358.3(IRX4):c.1271T>A (p.Leu424Gln)	IRX4 (L424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110965	NM_016358.3(IRX4):c.1250C>A (p.Ala417Asp)	IRX4 (A443D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247023	NM_016358.3(IRX4):c.1203G>A (p.Ala401=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523432	NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu)	IRX4 (P417L +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 734123	NM_016358.3(IRX4):c.1144G>T (p.Ala382Ser)	IRX4 (A382S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776036	NM_016358.3(IRX4):c.1122A>G (p.Thr374=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110964	NM_016358.3(IRX4):c.1100G>T (p.Arg367Leu)	IRX4 (R393L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544214	NM_016358.3(IRX4):c.1099C>T (p.Arg367Cys)	IRX4 (R367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350476	NM_016358.3(IRX4):c.1091C>T (p.Ala364Val)	IRX4 (A390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222675	NM_016358.3(IRX4):c.1078G>A (p.Ala360Thr)	IRX4 (A360T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110963	NM_016358.3(IRX4):c.1069G>T (p.Gly357Trp)	IRX4 (G357W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110962	NM_016358.3(IRX4):c.1021G>A (p.Glu341Lys)	IRX4 (E341K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315233	NM_016358.3(IRX4):c.992C>T (p.Ala331Val)	IRX4 (A331V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286594	NM_016358.3(IRX4):c.991G>A (p.Ala331Thr)	IRX4 (A357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110967	NM_016358.3(IRX4):c.958C>A (p.Leu320Met)	IRX4 (L320M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395695	NM_016358.3(IRX4):c.920C>G (p.Ser307Cys)	IRX4 (S333C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286589	NM_016358.3(IRX4):c.862C>A (p.Arg288Ser)	IRX4 (R314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286595	NM_016358.3(IRX4):c.762G>T (p.Glu254Asp)	IRX4 (E254D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1225866	NM_016358.3(IRX4):c.737-217_737-216dup	IRX4	Duplication (intron variant)	not provided	GBenign
Select item 1222896	NM_016358.3(IRX4):c.737-217dup	IRX4	Duplication (intron variant)	not provided	GBenign
Select item 1257826	NM_016358.3(IRX4):c.737-322G>A	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243402	NM_016358.3(IRX4):c.736+233C>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738956	NM_016358.3(IRX4):c.736+10G>A	IRX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328504	NM_016358.3(IRX4):c.690C>T (p.Gly230=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2574128	NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)	IRX4 (T191I +1 more)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2377230	NM_016358.3(IRX4):c.565G>A (p.Val189Ile)	IRX4 (V189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620971	NM_016358.3(IRX4):c.539T>C (p.Ile180Thr)	IRX4 (I180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282293	NM_016358.3(IRX4):c.493C>T (p.Arg165Cys)	IRX4 (R191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320587	NM_016358.3(IRX4):c.445G>A (p.Ala149Thr)	IRX4 (A149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277155	NM_016358.3(IRX4):c.407+251A>C	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3110966	NM_016358.3(IRX4):c.392A>C (p.Gln131Pro)	IRX4 (Q131P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260250	NM_016358.3(IRX4):c.381A>G (p.Pro127=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292919	NM_016358.3(IRX4):c.376G>A (p.Glu126Lys)	IRX4 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280723	NM_016358.3(IRX4):c.355G>A (p.Ala119Thr)	IRX4 (A119T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1289177	NM_016358.3(IRX4):c.298-235_298-223del	IRX4	Deletion (intron variant)	not provided	GBenign
Select item 1230286	NM_016358.3(IRX4):c.297+189A>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign

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