UBR1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1488561.	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1 GRCh37: Chr15:42858959-44139304 GRCh38: Chr15:42566761-43847106	ADAL, CATSPER2, CCNDBP1, CDAN1, CKMT1A, CKMT1B, ELL3, EPB42, HAUS2, HYPK, LCMT2, LOC125078066, LOC125078067, LOC126862116, LOC126862117, LOC130056926, LOC130056927, LOC130056928, LOC130056929, LOC130056930, LOC130056931, LOC130056932, LOC130056933, LOC130056934, LOC130056935, LOC130056936, LOC130056937, LOC130056938, LOC130056939, LOC130056940, LOC130056941, LOC130056942, LOC130056943, LOC130056944, LOC130056945, LOC130056946, LOC130056947, LOC130056948, LOC130056949, LOC130056950, LOC130056951, LOC130056952, LOC130056953, LOC130056954, LOC130056955, LOC130056956, LOC130056957, LOC130056958, LOC130056959, LOC130056960, LOC130056961, MAP1A, MFAP1, MIR1282, PDIA3, PPIP5K1, SERF2, SERF2-C15ORF63, SERINC4, STARD9, STRC, TGM5, TGM7, TMEM62, TP53BP1, TTBK2, TTBK2-AS1, TUBGCP4, UBR1, WDR76, ZSCAN29		See cases	Likely pathogenic (Nov 4, 2011)	no assertion criteria provided
Select item 1540692.	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1 GRCh37: Chr15:43077825-43634458 GRCh38: Chr15:42785627-43342260	ADAL, CCNDBP1, EPB42, LCMT2, LOC125078066, LOC125078067, LOC130056934, LOC130056935, LOC130056936, LOC130056937, LOC130056938, LOC130056939, LOC130056940, LOC130056941, LOC130056942, TGM5, TGM7, TMEM62, TTBK2, UBR1		See cases	Pathogenic (Dec 3, 2013)	no assertion criteria provided
Select item 12268553.	NM_174916.3(UBR1):c.*324A>G GRCh37: Chr15:43237203 GRCh38: Chr15:42945005	UBR1		not provided	Benign (Jun 19, 2021)	criteria provided, single submitter
Select item 12815114.	NM_174916.3(UBR1):c.*113G>A GRCh37: Chr15:43237414 GRCh38: Chr15:42945216	UBR1		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 13770245.	NM_174916.3(UBR1):c.5220G>T (p.Met1740Ile) GRCh37: Chr15:43237557 GRCh38: Chr15:42945359	UBR1	M1740I	not provided	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 2628976.	NM_174916.3(UBR1):c.5205A>G (p.Gln1735=) GRCh37: Chr15:43237572 GRCh38: Chr15:42945374	UBR1		not specified, not provided	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15335967.	NM_174916.3(UBR1):c.5202C>G (p.Ser1734Arg) GRCh37: Chr15:43237575 GRCh38: Chr15:42945377	UBR1	S1734R	not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 14915218.	NM_174916.3(UBR1):c.5194G>T (p.Ala1732Ser) GRCh37: Chr15:43237583 GRCh38: Chr15:42945385	UBR1	A1732S	not provided, Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23222579.	NM_174916.3(UBR1):c.5183T>C (p.Ile1728Thr) GRCh37: Chr15:43237594 GRCh38: Chr15:42945396	UBR1	I1728T	Inborn genetic diseases	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 218565210.	NM_174916.3(UBR1):c.5147G>A (p.Arg1716Gln) GRCh37: Chr15:43237630 GRCh38: Chr15:42945432	UBR1	R1716Q	not provided, Inborn genetic diseases	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72162711.	NM_174916.3(UBR1):c.5135G>A (p.Arg1712His) GRCh37: Chr15:43237642 GRCh38: Chr15:42945444	UBR1	R1712H	not provided	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 146057412.	NM_174916.3(UBR1):c.5128T>G (p.Leu1710Val) GRCh37: Chr15:43237649 GRCh38: Chr15:42945451	UBR1	L1710V	not provided	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 105053313.	NM_174916.3(UBR1):c.5113G>A (p.Gly1705Ser) GRCh37: Chr15:43237664 GRCh38: Chr15:42945466	UBR1	G1705S	not provided	Uncertain significance	no assertion criteria provided
Select item 72578914.	NM_174916.3(UBR1):c.5109-8C>A GRCh37: Chr15:43237676 GRCh38: Chr15:42945478	UBR1		not provided	Likely benign (Aug 20, 2018)	criteria provided, single submitter
Select item 122886815.	NM_174916.3(UBR1):c.5109-155_5109-146del GRCh37: Chr15:43237814-43237823 GRCh38: Chr15:42945616-42945625	UBR1		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 125939216.	NM_174916.3(UBR1):c.5108+192G>A GRCh37: Chr15:43242268 GRCh38: Chr15:42950070	UBR1		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 123871917.	NM_174916.3(UBR1):c.5108+191C>T GRCh37: Chr15:43242269 GRCh38: Chr15:42950071	UBR1		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 141316818.	NM_174916.3(UBR1):c.5092A>G (p.Thr1698Ala) GRCh37: Chr15:43242476 GRCh38: Chr15:42950278	UBR1	T1698A	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 241990419.	NM_174916.3(UBR1):c.5062C>T (p.Pro1688Ser) GRCh37: Chr15:43242506 GRCh38: Chr15:42950308	UBR1	P1688S	not provided	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 203817720.	NM_174916.3(UBR1):c.5021G>A (p.Arg1674Gln) GRCh37: Chr15:43242547 GRCh38: Chr15:42950349	UBR1	R1674Q	not provided	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 91540521.	NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp) GRCh37: Chr15:43242549 GRCh38: Chr15:42950351	UBR1	C1673W	Johanson-Blizzard syndrome	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 140963322.	NM_174916.3(UBR1):c.5007dup (p.Ile1670fs) GRCh37: Chr15:43242559-43242560 GRCh38: Chr15:42950361-42950362	UBR1	I1670fs	not provided	Pathogenic (May 18, 2021)	criteria provided, single submitter
Select item 76441723.	NM_174916.3(UBR1):c.5007-7C>T GRCh37: Chr15:43242568 GRCh38: Chr15:42950370	UBR1		not provided	Likely benign (Aug 16, 2018)	criteria provided, single submitter
Select item 207145524.	NM_174916.3(UBR1):c.4972C>T (p.Leu1658Phe) GRCh37: Chr15:43244510 GRCh38: Chr15:42952312	UBR1	L1658F	not provided	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 191415425.	NM_174916.3(UBR1):c.4970C>T (p.Ala1657Val) GRCh37: Chr15:43244512 GRCh38: Chr15:42952314	UBR1	A1657V	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 161901726.	NM_174916.3(UBR1):c.4968C>T (p.His1656=) GRCh37: Chr15:43244514 GRCh38: Chr15:42952316	UBR1		not provided	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 151679527.	NM_174916.3(UBR1):c.4946A>G (p.Glu1649Gly) GRCh37: Chr15:43244536 GRCh38: Chr15:42952338	UBR1	E1649G	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 195865628.	NM_174916.3(UBR1):c.4944A>G (p.Glu1648=) GRCh37: Chr15:43244538 GRCh38: Chr15:42952340	UBR1		not provided	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 77745429.	NM_174916.3(UBR1):c.4938C>T (p.Asn1646=) GRCh37: Chr15:43244544 GRCh38: Chr15:42952346	UBR1		not specified, not provided	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140846830.	NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val) GRCh37: Chr15:43244587 GRCh38: Chr15:42952389	UBR1	A1632V	not provided	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 136541131.	NM_174916.3(UBR1):c.4868A>G (p.His1623Arg) GRCh37: Chr15:43244614 GRCh38: Chr15:42952416	UBR1	H1623R	not provided	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 264526232.	NM_174916.3(UBR1):c.4851A>C (p.Ala1617=) GRCh37: Chr15:43244631 GRCh38: Chr15:42952433	UBR1		not provided	Likely benign (May 1, 2023)	criteria provided, single submitter
Select item 141646033.	NM_174916.3(UBR1):c.4847C>T (p.Ser1616Phe) GRCh37: Chr15:43244635 GRCh38: Chr15:42952437	UBR1	S1616F	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 118032434.	NM_174916.3(UBR1):c.4836-53T>C GRCh37: Chr15:43244699 GRCh38: Chr15:42952501	UBR1		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 43719635.	NM_174916.3(UBR1):c.4834A>G (p.Arg1612Gly) GRCh37: Chr15:43250212 GRCh38: Chr15:42958014	UBR1	R1612G	not specified, not provided	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26289636.	NM_174916.3(UBR1):c.4803T>C (p.Tyr1601=) GRCh37: Chr15:43250243 GRCh38: Chr15:42958045	UBR1		not specified, not provided	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 122674837.	NM_174916.3(UBR1):c.4757+79T>C GRCh37: Chr15:43252764 GRCh38: Chr15:42960566	UBR1		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 216528038.	NM_174916.3(UBR1):c.4750G>A (p.Val1584Met) GRCh37: Chr15:43252850 GRCh38: Chr15:42960652	UBR1	V1584M	not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 217025839.	NM_174916.3(UBR1):c.4749C>T (p.Thr1583=) GRCh37: Chr15:43252851 GRCh38: Chr15:42960653	UBR1		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 250231340.	NM_174916.3(UBR1):c.4745del (p.Asn1582fs) GRCh37: Chr15:43252855 GRCh38: Chr15:42960657	UBR1	N1582fs	Johanson-Blizzard syndrome	Likely pathogenic	criteria provided, single submitter
Select item 225097941.	NM_174916.3(UBR1):c.4736A>G (p.Lys1579Arg) GRCh37: Chr15:43252864 GRCh38: Chr15:42960666	UBR1	K1579R	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 129006442.	NM_174916.3(UBR1):c.4701-206G>A GRCh37: Chr15:43253105 GRCh38: Chr15:42960907	UBR1		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 26289543.	NM_174916.3(UBR1):c.4700+12A>G GRCh37: Chr15:43256121 GRCh38: Chr15:42963923	UBR1		not provided, Johanson-Blizzard syndrome, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204575844.	NM_174916.3(UBR1):c.4694T>G (p.Leu1565Arg) GRCh37: Chr15:43256139 GRCh38: Chr15:42963941	UBR1	L1565R	not provided	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 241934445.	NM_174916.3(UBR1):c.4689C>T (p.Pro1563=) GRCh37: Chr15:43256144 GRCh38: Chr15:42963946	UBR1		not provided	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 75747846.	NM_174916.3(UBR1):c.4680T>C (p.Thr1560=) GRCh37: Chr15:43256153 GRCh38: Chr15:42963955	UBR1		not provided	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 163054047.	NM_174916.3(UBR1):c.4653C>T (p.Phe1551=) GRCh37: Chr15:43256180 GRCh38: Chr15:42963982	UBR1		not provided	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 26289448.	NM_174916.3(UBR1):c.4642A>G (p.Thr1548Ala) GRCh37: Chr15:43256191 GRCh38: Chr15:42963993	UBR1	T1548A	not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205559949.	NM_174916.3(UBR1):c.4631T>C (p.Leu1544Pro) GRCh37: Chr15:43256202 GRCh38: Chr15:42964004	UBR1	L1544P	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 240235550.	NM_174916.3(UBR1):c.4612A>C (p.Ser1538Arg) GRCh37: Chr15:43256221 GRCh38: Chr15:42964023	UBR1	S1538R	Inborn genetic diseases	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 144835651.	NM_174916.3(UBR1):c.4601_4603del (p.Glu1534del) GRCh37: Chr15:43256230-43256232 GRCh38: Chr15:42964032-42964034	UBR1	E1534del	not provided	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 163794952.	NM_174916.3(UBR1):c.4592-7C>T GRCh37: Chr15:43256248 GRCh38: Chr15:42964050	UBR1		not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 152902153.	NM_174916.3(UBR1):c.4581A>G (p.Glu1527=) GRCh37: Chr15:43258361 GRCh38: Chr15:42966163	UBR1		not provided	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218130854.	NM_174916.3(UBR1):c.4571C>T (p.Pro1524Leu) GRCh37: Chr15:43258371 GRCh38: Chr15:42966173	UBR1	P1524L	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 222945955.	NM_174916.3(UBR1):c.4558C>T (p.Leu1520Phe) GRCh37: Chr15:43258384 GRCh38: Chr15:42966186	UBR1	L1520F	Inborn genetic diseases	Uncertain significance (Mar 3, 2021)	criteria provided, single submitter
Select item 132373756.	NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter) GRCh37: Chr15:43258418 GRCh38: Chr15:42966220	UBR1	Y1508*	Johanson-Blizzard syndrome	Pathogenic (May 21, 2019)	criteria provided, single submitter
Select item 219517757.	NM_174916.3(UBR1):c.4457+10A>G GRCh37: Chr15:43262708 GRCh38: Chr15:42970510	UBR1		not provided	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 225684758.	NM_174916.3(UBR1):c.4424C>G (p.Ser1475Cys) GRCh37: Chr15:43262751 GRCh38: Chr15:42970553	UBR1	S1475C	Inborn genetic diseases	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 198685959.	NM_174916.3(UBR1):c.4417G>A (p.Ala1473Thr) GRCh37: Chr15:43262758 GRCh38: Chr15:42970560	UBR1	A1473T	not provided	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 260557360.	NM_174916.3(UBR1):c.4391A>C (p.Gln1464Pro) GRCh37: Chr15:43262784 GRCh38: Chr15:42970586	UBR1	Q1464P	Inborn genetic diseases	Uncertain significance (Jun 22, 2023)	criteria provided, single submitter
Select item 122766161.	NM_174916.3(UBR1):c.4370-132dup GRCh37: Chr15:43262924-43262925 GRCh38: Chr15:42970726-42970727	UBR1		not provided	Benign (May 20, 2021)	criteria provided, single submitter
Select item 125724262.	NM_174916.3(UBR1):c.4369+124_4369+127dup GRCh37: Chr15:43268787-43268788 GRCh38: Chr15:42976589-42976590	UBR1		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 164463463.	NM_174916.3(UBR1):c.4369+18G>A GRCh37: Chr15:43268897 GRCh38: Chr15:42976699	UBR1		not provided	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 190601664.	NM_174916.3(UBR1):c.4359A>G (p.Thr1453=) GRCh37: Chr15:43268925 GRCh38: Chr15:42976727	UBR1		not provided	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 70883965.	NM_174916.3(UBR1):c.4320T>C (p.His1440=) GRCh37: Chr15:43268964 GRCh38: Chr15:42976766	UBR1		not provided	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 206007966.	NM_174916.3(UBR1):c.4309dup (p.Tyr1437fs) GRCh37: Chr15:43268974-43268975 GRCh38: Chr15:42976776-42976777	UBR1	Y1437fs	not provided	Pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 213765867.	NM_174916.3(UBR1):c.4291T>C (p.Ser1431Pro) GRCh37: Chr15:43268993 GRCh38: Chr15:42976795	UBR1	S1431P	not provided	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 150854968.	NM_174916.3(UBR1):c.4280C>T (p.Ser1427Phe) GRCh37: Chr15:43269004 GRCh38: Chr15:42976806	UBR1	S1427F	not provided	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 254369969.	NM_174916.3(UBR1):c.4273C>G (p.Gln1425Glu) GRCh37: Chr15:43269011 GRCh38: Chr15:42976813	UBR1	Q1425E	Inborn genetic diseases	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 222154070.	NM_174916.3(UBR1):c.4219-3T>C GRCh37: Chr15:43269068 GRCh38: Chr15:42976870	UBR1		Inborn genetic diseases	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 153161971.	NM_174916.3(UBR1):c.4219-17C>G GRCh37: Chr15:43269082 GRCh38: Chr15:42976884	UBR1		not provided	Likely benign (Feb 10, 2021)	criteria provided, single submitter
Select item 128753572.	NM_174916.3(UBR1):c.4218+197del GRCh37: Chr15:43269881 GRCh38: Chr15:42977683	UBR1		not provided	Benign (May 19, 2021)	criteria provided, single submitter
Select item 212021973.	NM_174916.3(UBR1):c.4213G>A (p.Val1405Ile) GRCh37: Chr15:43270083 GRCh38: Chr15:42977885	UBR1	V1405I	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 75062674.	NM_174916.3(UBR1):c.4165A>C (p.Ile1389Leu) GRCh37: Chr15:43270131 GRCh38: Chr15:42977933	UBR1	I1389L	not provided	Likely benign (Aug 20, 2021)	criteria provided, single submitter
Select item 77688275.	NM_174916.3(UBR1):c.4144C>T (p.Leu1382=) GRCh37: Chr15:43276101 GRCh38: Chr15:42983903	UBR1		not provided	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 71737776.	NM_174916.3(UBR1):c.4138C>T (p.Arg1380Cys) GRCh37: Chr15:43276107 GRCh38: Chr15:42983909	UBR1	R1380C	not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 194145977.	NM_174916.3(UBR1):c.4132C>G (p.Leu1378Val) GRCh37: Chr15:43276113 GRCh38: Chr15:42983915	UBR1	L1378V	not provided	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 20862478.	NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) GRCh37: Chr15:43276138 GRCh38: Chr15:42983940	UBR1	C1369*	Johanson-Blizzard syndrome	Pathogenic (Sep 30, 2014)	criteria provided, single submitter
Select item 72700479.	NM_174916.3(UBR1):c.4077G>A (p.Met1359Ile) GRCh37: Chr15:43276168 GRCh38: Chr15:42983970	UBR1	M1359I	not provided	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 125199480.	NM_174916.3(UBR1):c.4054-2A>G GRCh37: Chr15:43276193 GRCh38: Chr15:42983995	UBR1		Johanson-Blizzard syndrome	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 26289381.	NM_174916.3(UBR1):c.4054-4C>G GRCh37: Chr15:43276195 GRCh38: Chr15:42983997	UBR1		not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72359982.	NM_174916.3(UBR1):c.4044A>G (p.Gln1348=) GRCh37: Chr15:43277094 GRCh38: Chr15:42984896	UBR1		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217246383.	NM_174916.3(UBR1):c.4005A>T (p.Leu1335=) GRCh37: Chr15:43277133 GRCh38: Chr15:42984935	UBR1		not provided	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 204998284.	NM_174916.3(UBR1):c.3998-7_3998-5del GRCh37: Chr15:43277145-43277147 GRCh38: Chr15:42984947-42984949	UBR1		not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 196026685.	NM_174916.3(UBR1):c.3998-10A>G GRCh37: Chr15:43277150 GRCh38: Chr15:42984952	UBR1		not provided	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 161663886.	NM_174916.3(UBR1):c.3998-11dup GRCh37: Chr15:43277150-43277151 GRCh38: Chr15:42984952-42984953	UBR1		not provided	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 193684087.	NM_174916.3(UBR1):c.3998-15T>C GRCh37: Chr15:43277155 GRCh38: Chr15:42984957	UBR1		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 127209688.	NM_174916.3(UBR1):c.3997+160G>A GRCh37: Chr15:43280857 GRCh38: Chr15:42988659	UBR1		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 75191989.	NM_174916.3(UBR1):c.3997+10A>C GRCh37: Chr15:43281007 GRCh38: Chr15:42988809	UBR1		not provided	Likely benign (Jun 22, 2018)	criteria provided, single submitter
Select item 135299290.	NM_174916.3(UBR1):c.3995T>C (p.Ile1332Thr) GRCh37: Chr15:43281019 GRCh38: Chr15:42988821	UBR1	I1332T	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 163471891.	NM_174916.3(UBR1):c.3975C>T (p.Cys1325=) GRCh37: Chr15:43281039 GRCh38: Chr15:42988841	UBR1		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 139706992.	NM_174916.3(UBR1):c.3947G>A (p.Arg1316Gln) GRCh37: Chr15:43281067 GRCh38: Chr15:42988869	UBR1	R1316Q	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 232975693.	NM_174916.3(UBR1):c.3901A>G (p.Ile1301Val) GRCh37: Chr15:43281113 GRCh38: Chr15:42988915	UBR1	I1301V	Inborn genetic diseases	Uncertain significance (Nov 30, 2022)	criteria provided, single submitter
Select item 262151294.	NM_174916.3(UBR1):c.3883A>G (p.Ile1295Val) GRCh37: Chr15:43281131 GRCh38: Chr15:42988933	UBR1	I1295V	Inborn genetic diseases	Uncertain significance (Aug 22, 2023)	criteria provided, single submitter
Select item 72561995.	NM_174916.3(UBR1):c.3873G>A (p.Lys1291=) GRCh37: Chr15:43281141 GRCh38: Chr15:42988943	UBR1		not provided	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 165116796.	NM_174916.3(UBR1):c.3849-14T>C GRCh37: Chr15:43281179 GRCh38: Chr15:42988981	UBR1		not provided	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 123981797.	NM_174916.3(UBR1):c.3849-226G>A GRCh37: Chr15:43281391 GRCh38: Chr15:42989193	UBR1		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 132852998.	NM_174916.3(UBR1):c.3848+5G>A GRCh37: Chr15:43282223 GRCh38: Chr15:42990025	UBR1		Johanson-Blizzard syndrome	Uncertain significance (Apr 6, 2021)	criteria provided, single submitter
Select item 98554099.	NM_174916.3(UBR1):c.3848+1G>T GRCh37: Chr15:43282227 GRCh38: Chr15:42990029	UBR1		Inborn genetic diseases	Likely pathogenic (Jan 29, 2019)	criteria provided, single submitter
Select item 2645263100.	NM_174916.3(UBR1):c.3848C>T (p.Ser1283Leu) GRCh37: Chr15:43282228 GRCh38: Chr15:42990030	UBR1	S1283L	not provided	Uncertain significance (Sep 1, 2023)	criteria provided, single submitter

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