ClinVar for MedGen (Select 10819) - ClinVar

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Items: 50

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17100861.	NM_001080449.3(DNA2):c.442-768_587+648del GRCh37: Chr10:70224776-70226337 GRCh38: Chr10:68465019-68466580	DNA2		Rothmund-Thomson syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 17100852.	NM_001080449.3(DNA2):c.2208+2456_2403-18del GRCh37: Chr10:70182379-70187737 GRCh38: Chr10:68422622-68427980	DNA2		Rothmund-Thomson syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 17100843.	NC_000010.11:g.68413754_68420303del GRCh37: Chr10:70173464-70180013 GRCh38: Chr10:68413707-68420256	DNA2, LOC132089842, LOC132089843		Rothmund-Thomson syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 17100834.	NM_001080449.3(DNA2):c.1711dup (p.Ile571fs) GRCh37: Chr10:70192202-70192203 GRCh38: Chr10:68432445-68432446	DNA2	I571fs	Rothmund-Thomson syndrome, not provided	Pathogenic/Likely pathogenic (Jan 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17100825.	NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro) GRCh37: Chr10:70229852 GRCh38: Chr10:68470095	DNA2	L48P	Rothmund-Thomson syndrome	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 17100816.	NM_001080449.3(DNA2):c.588-2214A>G GRCh37: Chr10:70221206 GRCh38: Chr10:68461449	DNA2		Rothmund-Thomson syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 6669827.	NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) GRCh37: Chr8:145741414 GRCh38: Chr8:144516030	RECQL4	Y363*	Rothmund-Thomson syndrome, Baller-Gerold syndrome	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5833158.	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 5761489.	NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) GRCh37: Chr8:145738298 GRCh38: Chr8:144512915	RECQL4	V896A	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57328010.	NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) GRCh37: Chr8:145737329 GRCh38: Chr8:144511946	RECQL4	E1120K	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57038311.	NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) GRCh37: Chr8:145737070 GRCh38: Chr8:144511687	RECQL4	G1166S	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56109712.	NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) GRCh37: Chr8:145741257 GRCh38: Chr8:144515873	RECQL4	W383*	Baller-Gerold syndrome, Rothmund-Thomson syndrome	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55992213.	NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs) GRCh37: Chr8:145738707-145738728 GRCh38: Chr8:144513324-144513345	RECQL4	D779fs	Rothmund-Thomson syndrome	Likely pathogenic (Jun 21, 2016)	criteria provided, single submitter
Select item 55992114.	NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) GRCh37: Chr8:145737393-145737394 GRCh38: Chr8:144512010-144512011	RECQL4	R1099fs	Rothmund-Thomson syndrome	Likely pathogenic (Jun 21, 2016)	criteria provided, single submitter
Select item 52901915.	NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) GRCh37: Chr8:145738499 GRCh38: Chr8:144513116	RECQL4	R829H	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, not provided	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52901716.	NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) GRCh37: Chr8:145736899 GRCh38: Chr8:144511516	RECQL4	R1181Q	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52897517.	NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) GRCh37: Chr8:145736913 GRCh38: Chr8:144511530	RECQL4		Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45941218.	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 45939519.	NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) GRCh37: Chr8:145738713 GRCh38: Chr8:144513330	RECQL4	R784Q	Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, not provided, Baller-Gerold syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45938820.	NM_004260.4(RECQL4):c.221_222del (p.Glu74fs) GRCh37: Chr8:145742566-145742567 GRCh38: Chr8:144517182-144517183	RECQL4	E74fs	Baller-Gerold syndrome	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 45935821.	NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) GRCh37: Chr8:145739431 GRCh38: Chr8:144514047	RECQL4	R647G	Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, Baller-Gerold syndrome	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45935222.	NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) GRCh37: Chr8:145739478 GRCh38: Chr8:144514094	RECQL4	R631H	Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, not provided	Uncertain significance (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45934623.	NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) GRCh37: Chr8:145739598 GRCh38: Chr8:144514214	RECQL4	R618Q	Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45931524.	NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) GRCh37: Chr8:145740755 GRCh38: Chr8:144515371	RECQL4	T449P	Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, Ovarian cancer, Baller-Gerold syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 40704225.	NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) GRCh37: Chr8:145739484 GRCh38: Chr8:144514100	RECQL4	R629Q	Inborn genetic diseases, Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40703726.	NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) GRCh37: Chr8:145741439 GRCh38: Chr8:144516055	RECQL4	R355Q	Hereditary cancer-predisposing syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Oct 22, 2022)	criteria provided, conflicting interpretations
Select item 40702327.	NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) GRCh37: Chr8:145737370 GRCh38: Chr8:144511987	RECQL4	R1106H	Rothmund-Thomson syndrome, Baller-Gerold syndrome, Rapadilino syndrome, not specified, not provided, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 40701528.	NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) GRCh37: Chr8:145740557 GRCh38: Chr8:144515173	RECQL4	R487H	Inborn genetic diseases, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 40701029.	NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) GRCh37: Chr8:145738813 GRCh38: Chr8:144513429	RECQL4	R751Q	Baller-Gerold syndrome, not provided, Inborn genetic diseases, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40699630.	NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) GRCh37: Chr8:145741964 GRCh38: Chr8:144516580	RECQL4	S180N	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40698331.	NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) GRCh37: Chr8:145740545 GRCh38: Chr8:144515161	RECQL4	R491Q	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40697632.	NM_004260.4(RECQL4):c.3055+5G>A GRCh37: Chr8:145737770 GRCh38: Chr8:144512387	RECQL4		not specified, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40697133.	NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) GRCh37: Chr8:145737847 GRCh38: Chr8:144512464	RECQL4	S995T	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40696534.	NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) GRCh37: Chr8:145743149 GRCh38: Chr8:144517765	LOC130001411, RECQL4	V7G	Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40693935.	NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) GRCh37: Chr8:145738720 GRCh38: Chr8:144513337	RECQL4	D782N	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40691836.	NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) GRCh37: Chr8:145739470 GRCh38: Chr8:144514086	RECQL4	V634M	Baller-Gerold syndrome, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40691737.	NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) GRCh37: Chr8:145738149 GRCh38: Chr8:144512766	RECQL4	E921K	Hereditary cancer-predisposing syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, Ovarian cancer, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 40690138.	NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) GRCh37: Chr8:145736909 GRCh38: Chr8:144511526	RECQL4	G1178R	Hereditary cancer-predisposing syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28890839.	NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) GRCh37: Chr8:145740370 GRCh38: Chr8:144514986	RECQL4	P524S	Inborn genetic diseases, Rothmund-Thomson syndrome, Rapadilino syndrome, Baller-Gerold syndrome, not provided, Baller-Gerold syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25925840.	NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) GRCh37: Chr8:145740372 GRCh38: Chr8:144514988	RECQL4	S523T	Inborn genetic diseases, Hereditary cancer-predisposing syndrome, not specified, not provided, Baller-Gerold syndrome, Rothmund-Thomson syndrome	Conflicting interpretations of pathogenicity (Mar 13, 2023)	criteria provided, conflicting interpretations
Select item 23977341.	NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) GRCh37: Chr8:145742118 GRCh38: Chr8:144516734	RECQL4	P129S	Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 23969442.	NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) GRCh37: Chr8:145741187 GRCh38: Chr8:144515803	RECQL4	E407K	Inborn genetic diseases, not provided, Hereditary cancer-predisposing syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, Baller-Gerold syndrome, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 23969343.	NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) GRCh37: Chr8:145741247 GRCh38: Chr8:144515863	RECQL4	G387R	not provided, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome	Uncertain significance (Jul 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22545344.	NM_004260.4(RECQL4):c.1390+1G>T GRCh37: Chr8:145740709 GRCh38: Chr8:144515325	RECQL4		Rapadilino syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome	Likely pathogenic (Mar 18, 2016)	criteria provided, single submitter
Select item 21202745.	NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) GRCh37: Chr8:145739881 GRCh38: Chr8:144514497	RECQL4	A550V	not specified, Baller-Gerold syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13517046.	NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) GRCh37: Chr8:145741255 GRCh38: Chr8:144515871	RECQL4	R384Q	Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, not provided, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 13514447.	NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) GRCh37: Chr8:145737591 GRCh38: Chr8:144512208	RECQL4	R1058G	Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, not provided, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Aug 10, 2023)	criteria provided, conflicting interpretations
Select item 13513348.	NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) GRCh37: Chr8:145739583 GRCh38: Chr8:144514199	RECQL4	R623H	Rothmund-Thomson syndrome type 2, Inborn genetic diseases, Hereditary cancer-predisposing syndrome, Baller-Gerold syndrome, Rothmund-Thomson syndrome, Rapadilino syndrome, not provided, Baller-Gerold syndrome	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 606649.	NM_004260.4(RECQL4):c.1573del (p.Cys525fs) GRCh37: Chr8:145740367 GRCh38: Chr8:144514983	RECQL4		Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Baller-Gerold syndrome, B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1), High grade surface osteosarcoma, Inborn genetic diseases, not provided, Rothmund-Thomson syndrome	Pathogenic (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 606350.	NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) GRCh37: Chr8:145738796 GRCh38: Chr8:144513412	RECQL4	Q757*	Inborn genetic diseases, Rapadilino syndrome, Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2, Rapadilino syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome, not provided, Rothmund-Thomson syndromeBaller-Gerold syndrome, ...see more	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 50