ClinVar for MedGen (Select 336602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581064	NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)	RECQL4 (Y1070* +17 more)	Single nucleotide variant (nonsense +1 more)	Rapadilino syndrome	GLikely pathogenic
Select item 2098850	NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)	RECQL4 (T457I +13 more)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 1426058	NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg)	RECQL4 (M358R)	Single nucleotide variant (missense variant)	Rapadilino syndrome +2 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 1280172	NM_004260.4(RECQL4):c.3502+24G>A	RECQL4	Single nucleotide variant (intron variant)	Rapadilino syndrome +3 more	GBenign
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 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)	Rapadilino syndrome +2 more	GUncertain significance
Select item 943576	NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)	RECQL4 (E431K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
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 837409	NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser)	RECQL4 (A657S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 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)	Baller-Gerold syndrome +3 more	GPathogenic/Likely pathogenic
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)	Baller-Gerold syndrome +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 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)	Baller-Gerold syndrome +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 576148	NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala)	RECQL4 (V896A)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 573280	NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys)	RECQL4 (E1120K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 572686	NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys)	RECQL4 (R248C)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 570383	NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser)	RECQL4 (G1166S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 567851	NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln)	RECQL4 (R766Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 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 529019	NM_004260.4(RECQL4):c.2486G>A (p.Arg829His)	RECQL4 (R829H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 529017	NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln)	RECQL4 (R1181Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 528980	NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu)	RECQL4 (Q377L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 528977	NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His)	RECQL4 (R1069H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 528975	NM_004260.4(RECQL4):c.3528G>A (p.Val1176=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
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 459412	NM_004260.4(RECQL4):c.2543G>A (p.Arg848His)	RECQL4 (R848H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GConflicting classifications of pathogenicity
Select item 459398	NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp)	RECQL4 (R804W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 459396	NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys)	RECQL4 (E796K)	Single nucleotide variant (missense variant)	Rapadilino syndrome +2 more	GUncertain significance
Select item 459395	NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln)	RECQL4 (R784Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 459382	NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met)	RECQL4 (I716M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 459365	NM_004260.4(RECQL4):c.2032G>A (p.Val678Met)	RECQL4 (V678M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 459358	NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly)	RECQL4 (R647G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 459352	NM_004260.4(RECQL4):c.1892G>A (p.Arg631His)	RECQL4 (R631H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 459346	NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln)	RECQL4 (R618Q)	Single nucleotide variant (missense variant)	Rapadilino syndrome +3 more	GUncertain significance
Select item 459315	NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro)	RECQL4 (T449P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GConflicting classifications of pathogenicity
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 459304	NM_004260.4(RECQL4):c.1132-8C>A	RECQL4	Single nucleotide variant (intron variant)	Rapadilino syndrome +2 more	GConflicting classifications of pathogenicity
Select item 450513	NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp)	RECQL4 (R629W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 407042	NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln)	RECQL4 (R629Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 407037	NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln)	RECQL4 (R355Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GConflicting classifications of pathogenicity
Select item 407029	NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)	RECQL4 (S523fs)	Indel (frameshift variant)	Baller-Gerold syndrome +4 more	GPathogenic
Select item 407023	NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His)	RECQL4 (R1106H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 407015	NM_004260.4(RECQL4):c.1460G>A (p.Arg487His)	RECQL4 (R487H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 407010	NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln)	RECQL4 (R751Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 407004	NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg)	RECQL4 (G809R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 406996	NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn)	RECQL4 (S180N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406983	NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln)	RECQL4 (R491Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406976	NM_004260.4(RECQL4):c.3055+5G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 406972	NM_004260.4(RECQL4):c.1043A>G (p.His348Arg)	RECQL4 (H348R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 406971	NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr)	RECQL4 (S995T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406965	NM_004260.4(RECQL4):c.20T>G (p.Val7Gly)	LOC130001411, RECQL4 (V7G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 406958	NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys)	RECQL4 (R1038C)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +2 more	GUncertain significance
Select item 406939	NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn)	RECQL4 (D782N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406926	NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His)	RECQL4 (R1038H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406918	NM_004260.4(RECQL4):c.1900G>A (p.Val634Met)	RECQL4 (V634M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406917	NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys)	RECQL4 (E921K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 406912	NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln)	RECQL4 (R715Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GUncertain significance
Select item 406907	NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp)	RECQL4 (E742D)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 406903	NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp)	RECQL4 (R751W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406902	NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys)	RECQL4 (E863K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 406901	NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg)	RECQL4 (G1178R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GUncertain significance
Select item 288908	NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser)	RECQL4 (P524S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 239773	NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser)	RECQL4 (P129S)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome +3 more	GConflicting classifications of pathogenicity
Select item 239754	NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)	RECQL4	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 239751	NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)	RECQL4 (M989I)	Single nucleotide variant (missense variant)	Rapadilino syndrome +4 more	GUncertain significance
Select item 239726	NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu)	RECQL4 (G806E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 239724	NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)	RECQL4	Deletion (inframe_deletion)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 239715	NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro)	RECQL4 (L700P)	Single nucleotide variant (missense variant)	Rapadilino syndrome +4 more	GConflicting classifications of pathogenicity
Select item 239700	NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp)	RECQL4 (R521W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 239694	NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)	RECQL4 (E407K)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239693	NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)	RECQL4 (G387R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 225453	NM_004260.4(RECQL4):c.1390+1G>T	RECQL4	Single nucleotide variant (splice donor variant)	Rapadilino syndrome +2 more	GLikely pathogenic
Select item 212027	NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val)	RECQL4 (A550V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 197759	NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)	RECQL4	Deletion (frameshift variant)	Baller-Gerold syndrome +3 more	GPathogenic/Likely pathogenic
Select item 194743	NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)	RECQL4 (V985M)	Single nucleotide variant (missense variant)	RECQL4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 167573	NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)	RECQL4	Single nucleotide variant (synonymous variant)	Rapadilino syndrome +3 more	GBenign
Select item 135174	NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)	RECQL4 (L526F)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign/Likely benign
Select item 135170	NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln)	RECQL4 (R384Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 135161	NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)	RECQL4	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 135158	NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)	RECQL4 (E71G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GBenign
Select item 135144	NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly)	RECQL4 (R1058G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135139	NM_004260.4(RECQL4):c.2420G>A (p.Arg807His)	RECQL4 (R807H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 135133	NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)	RECQL4 (R623H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 135129	NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro)	RECQL4 (L566P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 135128	NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp)	RECQL4 (R562W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GConflicting classifications of pathogenicity
Select item 94898	NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)	RECQL4 (E267D)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign
Select item 94897	NM_004260.4(RECQL4):c.738C>T (p.Ser246=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign
Select item 94894	NM_004260.4(RECQL4):c.3393+8C>T	RECQL4	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign
Select item 94893	NM_004260.4(RECQL4):c.3236+13C>T	RECQL4	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 2 +3 more	GBenign
Select item 94891	NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)	RECQL4 (R1005Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign
Select item 94889	NM_004260.4(RECQL4):c.2464-1G>C	RECQL4	Single nucleotide variant (splice acceptor variant)	Rothmund-Thomson syndrome type 2 +3 more	GPathogenic/Likely pathogenic
Select item 94886	NM_004260.4(RECQL4):c.1621-15C>T	RECQL4	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 2 +3 more	GBenign

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