AHRR[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 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	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 152421	GRCh38/hg38 5p15.33(chr5:22149-356107)x1	AHRR, CCDC127 +24 more	Copy number loss	See cases	GLikely benign
Select item 151630	GRCh38/hg38 5p15.33(chr5:22149-658446)x1	LOC132089252, LOC132089253 +75 more	Copy number loss	See cases	GLikely benign
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 149108	GRCh38/hg38 5p15.33(chr5:22149-946680)x1	AHRR, BRD9 +99 more	Copy number loss	See cases	GUncertain significance
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 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	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 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
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 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 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 57402	GRCh38/hg38 5p15.33(chr5:138272-710438)x3	AHRR, CCDC127 +88 more	Copy number gain	See cases	GUncertain significance
Select item 144231	GRCh38/hg38 5p15.33(chr5:220313-470506)x3	AHRR, EXOC3 +50 more	Copy number gain	See cases	GBenign
Select item 151631	GRCh38/hg38 5p15.33(chr5:314795-496067)x1	AHRR, EXOC3 +49 more	Copy number loss	See cases	GBenign
Select item 57919	GRCh38/hg38 5p15.33(chr5:316478-937457)x3	AHRR, BRD9 +84 more	Copy number gain	See cases	GUncertain significance
Select item 145222	GRCh38/hg38 5p15.33(chr5:346162-404606)x3	AHRR, LOC126807281 +14 more	Copy number gain	See cases	GBenign
Select item 2507706	NM_001377236.1(AHRR):c.73G>A (p.Val25Met)	AHRR, PDCD6-AHRR (V25M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3278819	NM_001377236.1(AHRR):c.76G>C (p.Gly26Arg)	AHRR, PDCD6-AHRR (G26R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102155	NM_001377236.1(AHRR):c.88T>C (p.Ser30Pro)	AHRR, PDCD6-AHRR (S30P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102192	NM_001377236.1(AHRR):c.104G>A (p.Arg35Gln)	AHRR, PDCD6-AHRR (R35Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3278756	NM_001377236.1(AHRR):c.109C>T (p.Arg37Trp)	AHRR, PDCD6-AHRR (R37W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2595275	NM_001377236.1(AHRR):c.116G>T (p.Arg39Leu)	AHRR, PDCD6-AHRR (R39L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2321172	NM_001377236.1(AHRR):c.116G>A (p.Arg39His)	AHRR, PDCD6-AHRR (R39H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272112	NM_001377236.1(AHRR):c.125C>G (p.Ala42Gly)	AHRR, PDCD6-AHRR (A42G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 726872	NM_020731.4(AHRR):c.168G>A (p.Pro56=)	AHRR, PDCD6-AHRR	Single nucleotide variant	not provided	GLikely benign
Select item 2456970	NM_001377236.1(AHRR):c.196G>A (p.Val66Ile)	AHRR, PDCD6-AHRR (V66I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 145324	GRCh38/hg38 5p15.33(chr5:369755-574780)x3	AHRR, EXOC3 +39 more	Copy number gain	See cases	GBenign
Select item 2224946	NM_001377236.1(AHRR):c.247G>A (p.Val83Met)	AHRR, PDCD6-AHRR (V83M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2236686	NM_001377236.1(AHRR):c.275C>T (p.Ala92Val)	AHRR, PDCD6-AHRR (A92V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102297	NM_001377236.1(AHRR):c.283G>A (p.Ala95Thr)	AHRR, PDCD6-AHRR (A95T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346676	NM_001377236.1(AHRR):c.310C>G (p.Leu104Val)	AHRR, PDCD6-AHRR (L104V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2493705	NM_001377236.1(AHRR):c.311T>C (p.Leu104Pro)	AHRR, PDCD6-AHRR (L104P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2325321	NM_001377236.1(AHRR):c.325G>A (p.Val109Met)	AHRR, PDCD6-AHRR (V109M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102307	NM_001377236.1(AHRR):c.392C>T (p.Thr131Met)	AHRR, LOC108251796 +1 more (T131M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2340121	NM_001377236.1(AHRR):c.413C>T (p.Thr138Met)	AHRR, LOC108251796 +1 more (T138M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2655243	NM_001377236.1(AHRR):c.414G>A (p.Thr138=)	AHRR, LOC108251796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3278827	NM_001377236.1(AHRR):c.490C>T (p.Arg164Cys)	AHRR, PDCD6-AHRR (R164C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2256741	NM_001377236.1(AHRR):c.502T>C (p.Cys168Arg)	AHRR, PDCD6-AHRR (C168R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 778862	NM_020731.4(AHRR):c.516C>T (p.Cys172=)	AHRR, PDCD6-AHRR	Single nucleotide variant	not provided	GBenign
Select item 2329849	NM_001377236.1(AHRR):c.546T>G (p.Phe182Leu)	AHRR, PDCD6-AHRR (F182L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3278739	NM_001377236.1(AHRR):c.592A>T (p.Arg198Trp)	AHRR, PDCD6-AHRR (R198W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358749	NM_001377236.1(AHRR):c.626C>T (p.Thr209Met)	AHRR, PDCD6-AHRR (T209M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3278802	NM_001377236.1(AHRR):c.634G>A (p.Glu212Lys)	AHRR, PDCD6-AHRR (E212K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2306542	NM_001377236.1(AHRR):c.698C>T (p.Ser233Leu)	AHRR, PDCD6-AHRR (S233L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2655244	NM_001377236.1(AHRR):c.706C>T (p.Leu236=)	AHRR, PDCD6-AHRR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2353873	NM_001377236.1(AHRR):c.709-166G>A	AHRR, PDCD6-AHRR	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102326	NM_001377236.1(AHRR):c.709-143C>T	AHRR, PDCD6-AHRR	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340859	NM_001377236.1(AHRR):c.709-131C>G	AHRR, PDCD6-AHRR	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347249	NM_001377236.1(AHRR):c.778C>T (p.Leu260Phe)	AHRR, PDCD6-AHRR (L260F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102334	NM_001377236.1(AHRR):c.787C>T (p.Arg263Trp)	AHRR, PDCD6-AHRR (R263W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2614233	NM_001377236.1(AHRR):c.832G>A (p.Ala278Thr)	AHRR, PDCD6-AHRR (A278T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign

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