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, MAP1A, MFAP1, MIR1282, PDIA3, PPIP5K1, SERF2, SERF2-C15ORF63, SERINC4, STARD9, STRC, TGM5, TGM7, TMEM62, TP53BP1, TTBK2, 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, 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 (Oct 14, 2022)	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_Glu1649=) 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 141646032.	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 118032433.	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 43719634.	NM_174916.3(UBR1):c.4834A>G (p.Arg1612Gly) GRCh37: Chr15:43250212 GRCh38: Chr15:42958014	UBR1	R1612G	not provided, not specified	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26289635.	NM_174916.3(UBR1):c.4803T>C (p.Tyr1601=) GRCh37: Chr15:43250243 GRCh38: Chr15:42958045	UBR1		not provided, not specified	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122674836.	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 216528037.	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 217025838.	NM_174916.3(UBR1):c.4749C>T (p.Thr1583_Val1584=) GRCh37: Chr15:43252851 GRCh38: Chr15:42960653	UBR1		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 225097939.	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 129006440.	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 26289541.	NM_174916.3(UBR1):c.4700+12A>G GRCh37: Chr15:43256121 GRCh38: Chr15:42963923	UBR1		not specified, not provided, Johanson-Blizzard syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204575842.	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 241934443.	NM_174916.3(UBR1):c.4689C>T (p.Pro1563_Leu1564=) GRCh37: Chr15:43256144 GRCh38: Chr15:42963946	UBR1		not provided	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 75747844.	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 163054045.	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 26289446.	NM_174916.3(UBR1):c.4642A>G (p.Thr1548Ala) GRCh37: Chr15:43256191 GRCh38: Chr15:42963993	UBR1	T1548A	not provided, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205559947.	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 240235548.	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 144835649.	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 163794950.	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 152902151.	NM_174916.3(UBR1):c.4581A>G (p.Glu1527=) GRCh37: Chr15:43258361 GRCh38: Chr15:42966163	UBR1		not provided	Likely benign (Feb 24, 2021)	criteria provided, single submitter
Select item 218130852.	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 222945953.	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 132373754.	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 219517755.	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 225684756.	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 198685957.	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 122766158.	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 125724259.	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 164463460.	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 190601661.	NM_174916.3(UBR1):c.4359A>G (p.Thr1453_Val1454=) GRCh37: Chr15:43268925 GRCh38: Chr15:42976727	UBR1		not provided	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 70883962.	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 206007963.	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 213765864.	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 150854965.	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 222154066.	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 153161967.	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 128753568.	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 212021969.	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 75062670.	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 77688271.	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 71737772.	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 194145973.	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 20862474.	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 72700475.	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 125199476.	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 26289377.	NM_174916.3(UBR1):c.4054-4C>G GRCh37: Chr15:43276195 GRCh38: Chr15:42983997	UBR1		not provided, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72359978.	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 217246379.	NM_174916.3(UBR1):c.4005A>T (p.Leu1335_Leu1336=) GRCh37: Chr15:43277133 GRCh38: Chr15:42984935	UBR1		not provided	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 204998280.	NM_174916.3(UBR1):c.3998-7_3998-5del GRCh37: Chr15:43277145-43277147 GRCh38: Chr15:42984947-42984949	UBR1		not provided	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 196026681.	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 161663882.	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 193684083.	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 127209684.	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 75191985.	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 135299286.	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 163471887.	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 139706988.	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 232975689.	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 72561990.	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 165116791.	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 123981792.	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 132852993.	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 98554094.	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 160923595.	NM_174916.3(UBR1):c.3840T>C (p.Val1280=) GRCh37: Chr15:43282236 GRCh38: Chr15:42990038	UBR1		not provided	Likely benign (Oct 9, 2021)	criteria provided, single submitter
Select item 227675896.	NM_174916.3(UBR1):c.3838G>A (p.Val1280Ile) GRCh37: Chr15:43282238 GRCh38: Chr15:42990040	UBR1	V1280I	Inborn genetic diseases	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 78907197.	NM_174916.3(UBR1):c.3791G>A (p.Gly1264Glu) GRCh37: Chr15:43282285 GRCh38: Chr15:42990087	UBR1	G1264E	not provided	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 152363498.	NM_174916.3(UBR1):c.3789A>G (p.Gln1263=) GRCh37: Chr15:43282287 GRCh38: Chr15:42990089	UBR1		not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 75529299.	NM_174916.3(UBR1):c.3750T>C (p.His1250=) GRCh37: Chr15:43290373 GRCh38: Chr15:42998175	UBR1		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 711153100.	NM_174916.3(UBR1):c.3741T>A (p.Asn1247Lys) GRCh37: Chr15:43290382 GRCh38: Chr15:42998184	UBR1	N1247K	not provided	Benign (Oct 27, 2022)	criteria provided, single submitter

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