ClinVar for MedGen (Select 1684753) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24448851.	NM_004260.4(RECQL4):c.2414_2422del (p.Ala805_Arg807del) GRCh37: Chr8:145738642-145738650 GRCh38: Chr8:144513259-144513267	RECQL4		Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 24317992.	NM_004260.4(RECQL4):c.1483+27_1483+37del GRCh37: Chr8:145740497-145740507 GRCh38: Chr8:144515113-144515123	RECQL4		Rothmund-Thomson syndrome type 2	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 20988503.	NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile) GRCh37: Chr8:145738412 GRCh38: Chr8:144513029	RECQL4	T457I, T479I, T815I, T848I, T369I, T491I, T760I, T792I, T814I, T858I, T435I, T501I, T741I, T826I	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Baller-Gerold syndrome	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18052724.	NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg) GRCh37: Chr8:145742015 GRCh38: Chr8:144516631	RECQL4	P120R, P163R	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17109545.	NM_004260.4(RECQL4):c.3338G>C (p.Gly1113Ala) GRCh37: Chr8:145737349 GRCh38: Chr8:144511966	RECQL4	G1113A	Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 17109326.	NM_004260.4(RECQL4):c.312C>G (p.Asp104Glu) GRCh37: Chr8:145742476 GRCh38: Chr8:144517092	RECQL4	D104E	Rothmund-Thomson syndrome type 2	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 16873577.	NM_004260.4(RECQL4):c.988dup (p.Ala330fs) GRCh37: Chr8:145741514-145741515 GRCh38: Chr8:144516130-144516131	RECQL4	A330fs	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14687258.	NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn) GRCh37: Chr8:145738642 GRCh38: Chr8:144513259	RECQL4	D808N	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14260859.	NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del) GRCh37: Chr8:145737104-145737106 GRCh38: Chr8:144511721-144511723	RECQL4	K1154del	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142605810.	NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) GRCh37: Chr8:145741430 GRCh38: Chr8:144516046	RECQL4	M358R	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Baller-Gerold syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134133211.	NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) GRCh37: Chr8:145737069 GRCh38: Chr8:144511686	RECQL4	G1166D	Rothmund-Thomson syndrome type 2	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 132794312.	NM_004260.4(RECQL4):c.2296del (p.Arg766fs) GRCh37: Chr8:145738768 GRCh38: Chr8:144513385	RECQL4	R766fs	Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Baller-Gerold syndrome	Benign (Nov 7, 2021)	criteria provided, single submitter
Select item 132707413.	NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) GRCh37: Chr8:145741373 GRCh38: Chr8:144515989	RECQL4	Q377R	Rothmund-Thomson syndrome type 2, not specified, Baller-Gerold syndrome	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128017214.	NM_004260.4(RECQL4):c.3502+24G>A GRCh37: Chr8:145737040 GRCh38: Chr8:144511657	RECQL4		Rapadilino syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107496815.	NM_004260.4(RECQL4):c.2650del (p.Gln884fs) GRCh37: Chr8:145738335 GRCh38: Chr8:144512952	RECQL4	Q884fs	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105177316.	NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) GRCh37: Chr8:145741745 GRCh38: Chr8:144516361	RECQL4	Q253R	Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Baller-Gerold syndrome	Uncertain significance (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104522217.	NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) GRCh37: Chr8:145736932 GRCh38: Chr8:144511549	RECQL4	P1170L	Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Baller-Gerold syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104442218.	NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) GRCh37: Chr8:145738735 GRCh38: Chr8:144513352	RECQL4	G777W	Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Baller-Gerold syndrome	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103666619.	NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) GRCh37: Chr8:145738792 GRCh38: Chr8:144513408	RECQL4	R758P	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99801220.	NM_004260.4(RECQL4):c.[1724_1725del;691G>A] GRCh37: Chr8:145739726-145739727 Chr8:145741812 GRCh38: Chr8:144514342-144514343 Chr8:144516428	RECQL4, RECQL4	H575fs, G231S	Rothmund-Thomson syndrome type 2	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99747421.	NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) GRCh37: Chr8:145737424 GRCh38: Chr8:144512041	RECQL4	C1088Y	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96857022.	NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu) GRCh37: Chr8:145737877 GRCh38: Chr8:144512494	RECQL4	V985L	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 94357623.	NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) GRCh37: Chr8:145740809 GRCh38: Chr8:144515425	RECQL4	E431K	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86364424.	NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg) GRCh37: Chr8:145738130 GRCh38: Chr8:144512747	RECQL4	L927R	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Conflicting interpretations of pathogenicity (Aug 12, 2022)	criteria provided, conflicting interpretations
Select item 85786125.	NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) GRCh37: Chr8:145739035 GRCh38: Chr8:144513651	RECQL4	C707Y	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85008426.	NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) GRCh37: Chr8:145740578 GRCh38: Chr8:144515194	RECQL4	A480D	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84792927.	NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) GRCh37: Chr8:145741967 GRCh38: Chr8:144516583	RECQL4	L179Q	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80441328.	NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) GRCh37: Chr8:145741464-145741465 GRCh38: Chr8:144516080-144516081	RECQL4	R347fs	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Pathogenic/Likely pathogenic (Jun 20, 2019)	criteria provided, multiple submitters, no conflicts
Select item 66616529.	NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) GRCh37: Chr8:145738323 GRCh38: Chr8:144512940	RECQL4	Q888*	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, not provided, Baller-Gerold syndrome	Pathogenic/Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65824830.	NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp) GRCh37: Chr8:145738769 GRCh38: Chr8:144513385	RECQL4	R766W	Rothmund-Thomson syndrome type 2	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 65641831.	NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) GRCh37: Chr8:145741857 GRCh38: Chr8:144516473	RECQL4	E216K	Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Ovarian cancer, Inborn genetic diseases, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 65531632.	NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) GRCh37: Chr8:145739584 GRCh38: Chr8:144514200	RECQL4	R623C	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, not provided, Baller-Gerold syndrome	Uncertain significance (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64916633.	NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) GRCh37: Chr8:145741858-145741859 GRCh38: Chr8:144516474-144516475	RECQL4	E215fs	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Pathogenic/Likely pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64871034.	NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) GRCh37: Chr8:145736896 GRCh38: Chr8:144511513	RECQL4	R1182H	Rothmund-Thomson syndrome type 2, RECQL4-related condition, Baller-Gerold syndrome	Uncertain significance (Jul 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64830735.	NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp) GRCh37: Chr8:145742132 GRCh38: Chr8:144516748	RECQL4	G124D	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Mar 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64514936.	NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) GRCh37: Chr8:145741611 GRCh38: Chr8:144516227	RECQL4	P298S	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64500637.	NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) GRCh37: Chr8:145740452 GRCh38: Chr8:144515068	RECQL4	I496M	Rothmund-Thomson syndrome type 2, not provided, Baller-Gerold syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64161238.	NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr) GRCh37: Chr8:145741638 GRCh38: Chr8:144516254	RECQL4	A289T	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 64143039.	NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) GRCh37: Chr8:145742037 GRCh38: Chr8:144516653	RECQL4	S156C	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58331540.	NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) GRCh37: Chr8:145737138 GRCh38: Chr8:144511755	RECQL4	I1143T	Rapadilino syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57819441.	NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) GRCh37: Chr8:145738761 GRCh38: Chr8:144513378	RECQL4	V768A	Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rapadilino syndrome	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57672342.	NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) GRCh37: Chr8:145739026 GRCh38: Chr8:144513642	RECQL4	R710H	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57498443.	NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro) GRCh37: Chr8:145738130 GRCh38: Chr8:144512747	RECQL4	L927P	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57268644.	NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) GRCh37: Chr8:145741761 GRCh38: Chr8:144516377	RECQL4	R248C	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Baller-Gerold syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57244845.	NM_004260.4(RECQL4):c.2463+5G>A GRCh37: Chr8:145738596 GRCh38: Chr8:144513213	RECQL4		Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56806846.	NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) GRCh37: Chr8:145739831 GRCh38: Chr8:144514447	RECQL4	Q567*	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56785147.	NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) GRCh37: Chr8:145738767 GRCh38: Chr8:144513384	RECQL4	R766Q	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54704148.	NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) GRCh37: Chr8:145742129-145742144 GRCh38: Chr8:144516745-144516760	RECQL4		Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, not provided	Pathogenic/Likely pathogenic (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52903749.	NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) GRCh37: Chr8:145737374 GRCh38: Chr8:144511991	RECQL4	G1105R	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52902850.	NM_004260.4(RECQL4):c.2837G>A (p.Arg946His) GRCh37: Chr8:145738073 GRCh38: Chr8:144512690	RECQL4	R946H	Baller-Gerold syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 52901551.	NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp) GRCh37: Chr8:145739599 GRCh38: Chr8:144514215	RECQL4	R618W	Rothmund-Thomson syndrome type 2, not specified, Baller-Gerold syndrome	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52900452.	NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys) GRCh37: Chr8:145743144 GRCh38: Chr8:144517760	LOC130001411, RECQL4	E9K	Hereditary cancer-predisposing syndrome, not provided, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Conflicting interpretations of pathogenicity (Jul 6, 2023)	criteria provided, conflicting interpretations
Select item 52898753.	NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) GRCh37: Chr8:145741815 GRCh38: Chr8:144516431	RECQL4	P230S	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52898054.	NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) GRCh37: Chr8:145741373 GRCh38: Chr8:144515989	RECQL4	Q377L	not provided, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Baller-Gerold syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52895855.	NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) GRCh37: Chr8:145739331 GRCh38: Chr8:144513947	RECQL4	M680T	Inborn genetic diseases, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52895756.	NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His) GRCh37: Chr8:145737400 GRCh38: Chr8:144512017	RECQL4	R1096H	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52894557.	NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) GRCh37: Chr8:145741395 GRCh38: Chr8:144516011	RECQL4	R370C	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52892158.	NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) GRCh37: Chr8:145737401 GRCh38: Chr8:144512018	RECQL4	R1096C	Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52891559.	NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu) GRCh37: Chr8:145737532 GRCh38: Chr8:144512149	RECQL4	F1077L	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52891360.	NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) GRCh37: Chr8:145739086 GRCh38: Chr8:144513702	RECQL4	T690M	Rothmund-Thomson syndrome type 2, Ovarian cancer, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 45952361.	NM_004260.4(RECQL4):c.864G>A (p.Gly288=) GRCh37: Chr8:145741639 GRCh38: Chr8:144516255	RECQL4		Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45951262.	NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys) GRCh37: Chr8:145741802 GRCh38: Chr8:144516418	RECQL4	S234C	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45950663.	NM_004260.4(RECQL4):c.556C>T (p.Leu186=) GRCh37: Chr8:145741947 GRCh38: Chr8:144516563	RECQL4		Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45950564.	NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro) GRCh37: Chr8:145741958 GRCh38: Chr8:144516574	RECQL4	R182P	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45950265.	NM_004260.4(RECQL4):c.504G>A (p.Arg168=) GRCh37: Chr8:145741999 GRCh38: Chr8:144516615	RECQL4		Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45950066.	NM_004260.4(RECQL4):c.444C>T (p.Val148=) GRCh37: Chr8:145742059 GRCh38: Chr8:144516675	RECQL4		Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45944867.	NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) GRCh37: Chr8:145737817 GRCh38: Chr8:144512434	RECQL4	R1005W	RECQL4-related condition, Rapadilino syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, not provided	Uncertain significance (Jul 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45944568.	NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) GRCh37: Chr8:145737878 GRCh38: Chr8:144512495	RECQL4		Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, not provided	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45943669.	NM_004260.4(RECQL4):c.2799C>T (p.His933=) GRCh37: Chr8:145738111 GRCh38: Chr8:144512728	RECQL4		Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, not provided	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45943070.	NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr) GRCh37: Chr8:145738230 GRCh38: Chr8:144512847	RECQL4	A919T	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45941271.	NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) GRCh37: Chr8:145738442 GRCh38: Chr8:144513059	RECQL4	R848H	Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 45940372.	NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) GRCh37: Chr8:145738508 GRCh38: Chr8:144513125	RECQL4	R826Q	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45939873.	NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) GRCh37: Chr8:145738654 GRCh38: Chr8:144513271	RECQL4	R804W	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45939674.	NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) GRCh37: Chr8:145738678 GRCh38: Chr8:144513295	RECQL4	E796K	Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Baller-Gerold syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45938275.	NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) GRCh37: Chr8:145739007 GRCh38: Chr8:144513623	RECQL4	I716M	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, not provided	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45937976.	NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) GRCh37: Chr8:145742799 GRCh38: Chr8:144517415	RECQL4	E71A	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45937477.	NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys) GRCh37: Chr8:145739069 GRCh38: Chr8:144513685	RECQL4	R696C	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45936578.	NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) GRCh37: Chr8:145739338 GRCh38: Chr8:144513954	RECQL4	V678M	not provided, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45936079.	NM_004260.4(RECQL4):c.1953C>T (p.Asp651=) GRCh37: Chr8:145739417 GRCh38: Chr8:144514033	RECQL4		Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45930880.	NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) GRCh37: Chr8:145741236 GRCh38: Chr8:144515852	RECQL4		Rapadilino syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, not provided	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45930781.	NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) GRCh37: Chr8:145741239-145741240 GRCh38: Chr8:144515855-144515856	RECQL4	C389fs	Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45930482.	NM_004260.4(RECQL4):c.1132-8C>A GRCh37: Chr8:145741282 GRCh38: Chr8:144515898	RECQL4		Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 45930083.	NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) GRCh37: Chr8:145741409 GRCh38: Chr8:144516025	RECQL4	R365Q	Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45051384.	NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) GRCh37: Chr8:145739485 GRCh38: Chr8:144514101	RECQL4	R629W	not provided, Rapadilino syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41424185.	NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys) GRCh37: Chr8:145741602 GRCh38: Chr8:144516218	RECQL4	E301K	Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41422486.	NM_004260.4(RECQL4):c.1581G>A (p.Thr527=) GRCh37: Chr8:145740359 GRCh38: Chr8:144514975	RECQL4		Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41421587.	NM_004260.4(RECQL4):c.300C>T (p.Gly100=) GRCh37: Chr8:145742488 GRCh38: Chr8:144517104	RECQL4		not provided, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41421088.	NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) GRCh37: Chr8:145738827 GRCh38: Chr8:144513443	RECQL4		Rothmund-Thomson syndrome type 2, not specified, not provided, Baller-Gerold syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41420889.	NM_004260.4(RECQL4):c.1755G>T (p.Val585=) GRCh37: Chr8:145739696 GRCh38: Chr8:144514312	RECQL4		Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41420090.	NM_004260.4(RECQL4):c.1131+9G>A GRCh37: Chr8:145741363 GRCh38: Chr8:144515979	RECQL4		Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41419891.	NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) GRCh37: Chr8:145738351 GRCh38: Chr8:144512968	RECQL4		Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41419692.	NM_004260.4(RECQL4):c.2756-8G>T GRCh37: Chr8:145738162 GRCh38: Chr8:144512779	RECQL4		Rothmund-Thomson syndrome type 2, not provided, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41418193.	NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) GRCh37: Chr8:145737821 GRCh38: Chr8:144512438	RECQL4		not provided, Rothmund-Thomson syndrome type 2, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40703394.	NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys) GRCh37: Chr8:145737136 GRCh38: Chr8:144511753	RECQL4	R1144C	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40703195.	NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) GRCh37: Chr8:145740621 GRCh38: Chr8:144515237	RECQL4	P466A	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40702996.	NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) GRCh37: Chr8:145740367-145740372 GRCh38: Chr8:144514983-144514988	RECQL4	S523fs	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome, not provided	Pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40700697.	NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) GRCh37: Chr8:145738638 GRCh38: Chr8:144513255	RECQL4	G809E	Inborn genetic diseases, not provided, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 7, 2023)	criteria provided, conflicting interpretations
Select item 40700498.	NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) GRCh37: Chr8:145738639 GRCh38: Chr8:144513256	RECQL4	G809R	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, not provided	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40700399.	NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu) GRCh37: Chr8:145743161 GRCh38: Chr8:144517777	LOC130001411, RECQL4	R3L	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 406997100.	NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) GRCh37: Chr8:145737340 GRCh38: Chr8:144511957	RECQL4	P1116L	Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome type 2, Ovarian cancer, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations

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