ClinVar for MedGen (Select 1684753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064151	XM_017013997.1:c.3095T>A		Single nucleotide variant	Rothmund-Thomson syndrome type 2	GUncertain significance
Select item 3064077	XM_011517384.2:c.1149G>A		Single nucleotide variant	Rothmund-Thomson syndrome type 2	GPathogenic
Select item 2444885	NM_004260.4(RECQL4):c.2414_2422del (p.Ala805_Arg807del)	RECQL4	Deletion (inframe_indel +1 more)	Rothmund-Thomson syndrome type 2	GUncertain significance
Select item 2431799	NM_004260.4(RECQL4):c.1483+27_1483+37del	RECQL4	Deletion (intron variant)	not provided +1 more	GUncertain significance
Select item 2098850	NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)	RECQL4 (T457I +13 more)	Single nucleotide variant (missense variant)	Rapadilino syndrome +2 more	GUncertain significance
Select item 1805272	NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)	RECQL4 (P120R +1 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1710954	NM_004260.4(RECQL4):c.3338G>C (p.Gly1113Ala)	RECQL4 (G1113A)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2	GUncertain significance
Select item 1710932	NM_004260.4(RECQL4):c.312C>G (p.Asp104Glu)	RECQL4 (D104E)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2	GUncertain significance
Select item 1687357	NM_004260.4(RECQL4):c.988dup (p.Ala330fs)	RECQL4 (A330fs)	Duplication (frameshift variant)	Baller-Gerold syndrome +1 more	GPathogenic
Select item 1468725	NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn)	RECQL4 (D808N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1426085	NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del)	RECQL4 (K1154del)	Deletion (inframe_deletion)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 1426058	NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg)	RECQL4 (M358R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 1341332	NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp)	RECQL4 (G1166D)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 1327943	NM_004260.4(RECQL4):c.2296del (p.Arg766fs)	RECQL4 (R766fs)	Deletion (frameshift variant)	Rapadilino syndrome +2 more	GBenign
Select item 1327074	NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg)	RECQL4 (Q377R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1280172	NM_004260.4(RECQL4):c.3502+24G>A	RECQL4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1129438	NM_004260.4(RECQL4):c.3084G>A (p.Val1028=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1074968	NM_004260.4(RECQL4):c.2650del (p.Gln884fs)	RECQL4 (Q884fs)	Deletion (frameshift variant)	Baller-Gerold syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1058080	NM_004260.4(RECQL4):c.113C>A (p.Thr38Asn)	LOC130001411, RECQL4 (T38N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1051773	NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg)	RECQL4 (Q253R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 1045222	NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu)	RECQL4 (P1170L)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 1044422	NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp)	RECQL4 (G777W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 1036666	NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro)	RECQL4 (R758P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1035148	NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys)	RECQL4 (S564C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1009497	NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup)	RECQL4	Duplication (inframe_insertion)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
Select item 998012	NM_004260.4(RECQL4):c.[1724_1725del;691G>A]	RECQL4 (H575fs +1 more)	Microsatellite (frameshift variant +1 more)	Rothmund-Thomson syndrome type 2	GPathogenic
Select item 997474	NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr)	RECQL4 (C1088Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 968570	NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu)	RECQL4 (V985L)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 943576	NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)	RECQL4 (E431K)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 863644	NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)	RECQL4 (L927R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 857861	NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr)	RECQL4 (C707Y)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 850084	NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp)	RECQL4 (A480D)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 847929	NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln)	RECQL4 (L179Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 837801	NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn)	RECQL4 (D424N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 804413	NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs)	RECQL4 (R347fs)	Deletion (frameshift variant)	Baller-Gerold syndrome +2 more	GPathogenic/Likely pathogenic
Select item 666165	NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)	RECQL4 (Q888*)	Single nucleotide variant (nonsense)	Rapadilino syndrome +3 more	GPathogenic/Likely pathogenic
Select item 661753	NM_004260.4(RECQL4):c.3393+2T>G	RECQL4 (V1132G)	Single nucleotide variant (missense variant +1 more)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
Select item 658248	NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp)	RECQL4 (R766W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 656418	NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys)	RECQL4 (E216K)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 655316	NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys)	RECQL4 (R623C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 649166	NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)	RECQL4 (E215fs)	Microsatellite (frameshift variant)	Baller-Gerold syndrome +2 more	GPathogenic/Likely pathogenic
Select item 648710	NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His)	RECQL4 (R1182H)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 648307	NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp)	RECQL4 (G124D)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 645149	NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser)	RECQL4 (P298S)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 645006	NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met)	RECQL4 (I496M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 641612	NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr)	RECQL4 (A289T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GConflicting classifications of pathogenicity
Select item 641430	NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys)	RECQL4 (S156C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 583315	NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr)	RECQL4 (I1143T)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GUncertain significance
Select item 578194	NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala)	RECQL4 (V768A)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 576723	NM_004260.4(RECQL4):c.2129G>A (p.Arg710His)	RECQL4 (R710H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 574984	NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro)	RECQL4 (L927P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 572686	NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys)	RECQL4 (R248C)	Single nucleotide variant (missense variant)	Rapadilino syndrome +2 more	GUncertain significance
Select item 572448	NM_004260.4(RECQL4):c.2463+5G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 568068	NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)	RECQL4 (Q567*)	Single nucleotide variant (nonsense)	Baller-Gerold syndrome +1 more	GPathogenic
Select item 567851	NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln)	RECQL4 (R766Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GUncertain significance
Select item 547041	NM_004260.4(RECQL4):c.359_374delGACCAGCCCTGGGCCG	RECQL4	Deletion (splice acceptor variant)	Rothmund-Thomson syndrome type 2 +2 more	GPathogenic/Likely pathogenic
Select item 529037	NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg)	RECQL4 (G1105R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 529028	NM_004260.4(RECQL4):c.2837G>A (p.Arg946His)	RECQL4 (R946H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 529015	NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp)	RECQL4 (R618W)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 529004	NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys)	LOC130001411, RECQL4 (E9K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
Select item 528987	NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser)	RECQL4 (P230S)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 528980	NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu)	RECQL4 (Q377L)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +4 more	GUncertain significance
Select item 528965	NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr)	RECQL4 (H635Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 528958	NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr)	RECQL4 (M680T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 528957	NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His)	RECQL4 (R1096H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 528945	NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys)	RECQL4 (R370C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 528921	NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys)	RECQL4 (R1096C)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 528915	NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu)	RECQL4 (F1077L)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 528913	NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met)	RECQL4 (T690M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 459523	NM_004260.4(RECQL4):c.864G>A (p.Gly288=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 459512	NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys)	RECQL4 (S234C)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 459506	NM_004260.4(RECQL4):c.556C>T (p.Leu186=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +1 more	GLikely benign
Select item 459505	NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro)	RECQL4 (R182P)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 459502	NM_004260.4(RECQL4):c.504G>A (p.Arg168=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +1 more	GLikely benign
Select item 459500	NM_004260.4(RECQL4):c.444C>T (p.Val148=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +2 more	GLikely benign
Select item 459448	NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp)	RECQL4 (R1005W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 459445	NM_004260.4(RECQL4):c.2952C>T (p.Ser984=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 459436	NM_004260.4(RECQL4):c.2799C>T (p.His933=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +2 more	GLikely benign
Select item 459430	NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr)	RECQL4 (A919T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459412	NM_004260.4(RECQL4):c.2543G>A (p.Arg848His)	RECQL4 (R848H)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 459403	NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln)	RECQL4 (R826Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 459398	NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp)	RECQL4 (R804W)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GUncertain significance
Select item 459396	NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys)	RECQL4 (E796K)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 459382	NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met)	RECQL4 (I716M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 459379	NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala)	RECQL4 (E71A)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +1 more	GUncertain significance
Select item 459374	NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys)	RECQL4 (R696C)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 459365	NM_004260.4(RECQL4):c.2032G>A (p.Val678Met)	RECQL4 (V678M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GUncertain significance
Select item 459360	NM_004260.4(RECQL4):c.1953C>T (p.Asp651=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +1 more	GLikely benign
Select item 459308	NM_004260.4(RECQL4):c.1170T>C (p.Phe390=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +3 more	GLikely benign
Select item 459307	NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)	RECQL4 (C389fs)	Microsatellite (frameshift variant)	Baller-Gerold syndrome +2 more	GPathogenic/Likely pathogenic
Select item 459304	NM_004260.4(RECQL4):c.1132-8C>A	RECQL4	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 459300	NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln)	RECQL4 (R365Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 450513	NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp)	RECQL4 (R629W)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +3 more	GUncertain significance
Select item 414241	NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys)	RECQL4 (E301K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GBenign/Likely benign
Select item 414224	NM_004260.4(RECQL4):c.1581G>A (p.Thr527=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +2 more	GLikely benign
Select item 414215	NM_004260.4(RECQL4):c.300C>T (p.Gly100=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 414210	NM_004260.4(RECQL4):c.2238G>A (p.Ala746=)	RECQL4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 414208	NM_004260.4(RECQL4):c.1755G>T (p.Val585=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 414200	NM_004260.4(RECQL4):c.1131+9G>A	RECQL4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 414198	NM_004260.4(RECQL4):c.2634C>A (p.Pro878=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign

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