"RECQL4-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029450	NM_004260.4(RECQL4):c.*9C>G	RECQL4	Single nucleotide variant (3 prime UTR variant +1 more)	RECQL4-related disorder	GLikely benign
Select item 459495	NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
Select item 239771	NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys)	RECQL4 (R1208C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 94895	NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3032220	NM_004260.4(RECQL4):c.3566A>G (p.His1189Arg)	RECQL4 (H1072R +17 more)	Single nucleotide variant (missense variant +1 more)	RECQL4-related disorder	GUncertain significance
Select item 648710	NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His)	RECQL4 (R1182H)	Single nucleotide variant (missense variant)	RECQL4-related disorder +2 more	GUncertain significance
Select item 239765	NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 414203	NM_004260.4(RECQL4):c.3519G>A (p.Pro1173=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 528976	NM_004260.4(RECQL4):c.3496G>C (p.Gly1166Arg)	RECQL4 (G1166R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 239764	NM_004260.4(RECQL4):c.3495C>T (p.His1165=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 459479	NM_004260.4(RECQL4):c.3450G>A (p.Arg1150=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 239761	NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys)	RECQL4 (R1131K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1061698	NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu)	RECQL4 (P1127L)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 135152	NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)	RECQL4 (G1113R)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 529100	NM_004260.4(RECQL4):c.3303G>A (p.Lys1101=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 459467	NM_004260.4(RECQL4):c.3236+9G>A	RECQL4	Single nucleotide variant (intron variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 239760	NM_004260.4(RECQL4):c.3236+4G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +1 more	GConflicting classifications of pathogenicity
Select item 698252	NM_004260.4(RECQL4):c.3219C>G (p.Thr1073=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +2 more	GLikely benign
Select item 414228	NM_004260.4(RECQL4):c.3207T>C (p.Arg1069=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 135145	NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp)	RECQL4 (R1062W)	Single nucleotide variant (missense variant)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 1088078	NM_004260.4(RECQL4):c.3165C>A (p.Leu1055=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 239758	NM_004260.4(RECQL4):c.3162C>T (p.Phe1054=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 135148	NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)	RECQL4 (A1045T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 846860	NM_004260.4(RECQL4):c.3124G>A (p.Asp1042Asn)	RECQL4 (D1042N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 6073	NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)	RECQL4 (R1021W)	Single nucleotide variant (missense variant)	RECQL4-related disorder +1 more	GPathogenic
Select item 239753	NM_004260.4(RECQL4):c.3027G>A (p.Gln1009=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 459448	NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp)	RECQL4 (R1005W)	Single nucleotide variant (missense variant)	RECQL4-related disorder +4 more	GUncertain significance
Select item 239752	NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp)	RECQL4 (R1004W)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 414181	NM_004260.4(RECQL4):c.3009G>A (p.Val1003=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 406974	NM_004260.4(RECQL4):c.2987T>C (p.Met996Thr)	RECQL4 (M996T)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 194743	NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)	RECQL4 (V985M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
Select item 459445	NM_004260.4(RECQL4):c.2952C>T (p.Ser984=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +3 more	GLikely benign
Select item 407027	NM_004260.4(RECQL4):c.2902G>A (p.Val968Met)	RECQL4 (V968M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 459441	NM_004260.4(RECQL4):c.2885+5G>A	RECQL4	Single nucleotide variant (intron variant)	RECQL4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1635443	NM_004260.4(RECQL4):c.2811G>A (p.Leu937=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 459433	NM_004260.4(RECQL4):c.2775C>T (p.Cys925=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 1045562	NM_004260.4(RECQL4):c.2760C>G (p.Ile920Met)	RECQL4 (I920M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 459424	NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp)	RECQL4 (R902W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +3 more	GConflicting classifications of pathogenicity
Select item 569281	NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys)	RECQL4 (R895K)	Single nucleotide variant (missense variant)	RECQL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 528950	NM_004260.4(RECQL4):c.2653C>T (p.Leu885Phe)	RECQL4 (L885F)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 414198	NM_004260.4(RECQL4):c.2634C>A (p.Pro878=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +3 more	GBenign/Likely benign
Select item 529077	NM_004260.4(RECQL4):c.2631C>T (p.Tyr877=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 3051261	NM_004260.4(RECQL4):c.2616G>A (p.Arg872=)	RECQL4	Single nucleotide variant (synonymous variant +1 more)	RECQL4-related disorder	GLikely benign
Select item 1081164	NM_004260.4(RECQL4):c.2601C>T (p.Ala867=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 239738	NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4])	RECQL4	Microsatellite (inframe_insertion)	not specified +5 more	GBenign/Likely benign
Select item 239736	NM_004260.4(RECQL4):c.2544C>T (p.Arg848=)	RECQL4	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 2 +4 more	GBenign/Likely benign
Select item 459405	NM_004260.4(RECQL4):c.2511G>A (p.Thr837=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 407021	NM_004260.4(RECQL4):c.2491C>T (p.His831Tyr)	RECQL4 (H831Y)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 135141	NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys)	RECQL4 (E823K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 239730	NM_004260.4(RECQL4):c.2463+6C>T	RECQL4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 407006	NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu)	RECQL4 (G809E)	Single nucleotide variant (missense variant)	RECQL4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 239726	NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu)	RECQL4 (G806E)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 1147495	NM_004260.4(RECQL4):c.2331G>A (p.Gly777=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 846675	NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val)	RECQL4 (A773V)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1052101	NM_004260.4(RECQL4):c.2272C>G (p.Arg758Gly)	RECQL4 (R758G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 414210	NM_004260.4(RECQL4):c.2238G>A (p.Ala746=)	RECQL4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 239719	NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val)	RECQL4 (A746V)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GUncertain significance
Select item 414240	NM_004260.4(RECQL4):c.2235C>T (p.His745=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 406923	NM_004260.4(RECQL4):c.2224G>A (p.Glu742Lys)	RECQL4 (E742K)	Single nucleotide variant (missense variant)	RECQL4-related disorder +1 more	GUncertain significance
Select item 2693874	NM_004260.4(RECQL4):c.2201-1G>A	RECQL4	Single nucleotide variant (splice acceptor variant)	Baller-Gerold syndrome +1 more	GLikely pathogenic
Select item 239716	NM_004260.4(RECQL4):c.2200+5G>A	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 574399	NM_004260.4(RECQL4):c.2196T>A (p.Ser732=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +2 more	GLikely benign
Select item 702763	NM_004260.4(RECQL4):c.2154G>A (p.Ala718=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 459376	NM_004260.4(RECQL4):c.2112C>T (p.Ile704=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 239712	NM_004260.4(RECQL4):c.1959A>G (p.Ala653=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GBenign/Likely benign
Select item 193964	NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)	RECQL4 (V652M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 56403	NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)	RECQL4 (F637S)	Single nucleotide variant (missense variant)	RECQL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 239709	NM_004260.4(RECQL4):c.1899C>T (p.Gly633=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GBenign/Likely benign
Select item 193875	NM_004260.4(RECQL4):c.1872C>T (p.Val624=)	RECQL4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 528912	NM_004260.4(RECQL4):c.1784A>C (p.Gln595Pro)	RECQL4 (Q595P)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 239707	NM_004260.4(RECQL4):c.1779C>T (p.Ala593=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +3 more	GLikely benign
Select item 1099623	NM_004260.4(RECQL4):c.1705-8G>C	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 193669	NM_004260.4(RECQL4):c.1704+9C>T	RECQL4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 459338	NM_004260.4(RECQL4):c.1647G>A (p.Lys549=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 528969	NM_004260.4(RECQL4):c.1645A>C (p.Lys549Gln)	RECQL4 (K549Q)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 1093407	NM_004260.4(RECQL4):c.1635A>G (p.Pro545=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 135126	NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe)	RECQL4 (S542F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1161893	NM_004260.4(RECQL4):c.1617C>T (p.Asp539=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 695908	NM_004260.4(RECQL4):c.1596C>T (p.Pro532=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 407029	NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)	RECQL4 (S523fs)	Indel (frameshift variant)	RECQL4-related disorder +4 more	GPathogenic
Select item 239698	NM_004260.4(RECQL4):c.1548G>A (p.Ala516=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 697413	NM_004260.4(RECQL4):c.1518C>T (p.Ala506=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +1 more	GLikely benign
Select item 414193	NM_004260.4(RECQL4):c.1491C>T (p.Ser497=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 659364	NM_004260.4(RECQL4):c.1483+6C>T	RECQL4	Single nucleotide variant (intron variant)	RECQL4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 198790	NM_004260.4(RECQL4):c.1391-4G>T	RECQL4	Single nucleotide variant (intron variant)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
Select item 700812	NM_004260.4(RECQL4):c.1384T>C (p.Leu462=)	RECQL4	Single nucleotide variant (synonymous variant)	Baller-Gerold syndrome +1 more	GLikely benign
Select item 239695	NM_004260.4(RECQL4):c.1348G>A (p.Val450Met)	RECQL4 (V450M)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
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 3044757	NM_004260.4(RECQL4):c.1336C>T (p.Leu446=)	RECQL4	Single nucleotide variant (synonymous variant +2 more)	RECQL4-related disorder	GLikely benign
Select item 406952	NM_004260.4(RECQL4):c.1321C>T (p.Pro441Ser)	RECQL4 (P441S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GBenign/Likely benign
Select item 528919	NM_004260.4(RECQL4):c.1228G>A (p.Asp410Asn)	RECQL4 (D410N)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +1 more	GUncertain significance
Select item 239694	NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)	RECQL4 (E407K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 406906	NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val)	RECQL4 (G387V)	Single nucleotide variant (missense variant)	RECQL4-related disorder +3 more	GUncertain significance
Select item 135167	NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)	RECQL4 (R372T)	Single nucleotide variant (missense variant)	RECQL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 407034	NM_004260.4(RECQL4):c.1109G>A (p.Arg370His)	RECQL4 (R370H)	Single nucleotide variant (missense variant)	RECQL4-related disorder +1 more	GUncertain significance
Select item 407037	NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln)	RECQL4 (R355Q)	Single nucleotide variant (missense variant)	RECQL4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 528939	NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp)	RECQL4 (R344W)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GUncertain significance
Select item 218625	NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu)	RECQL4 (P343L)	Single nucleotide variant (missense variant)	RECQL4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 239785	NM_004260.4(RECQL4):c.969C>T (p.Ser323=)	RECQL4	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 94899	NM_004260.4(RECQL4):c.891C>T (p.Asp297=)	RECQL4	Single nucleotide variant (synonymous variant)	RECQL4-related disorder +4 more	GBenign/Likely benign

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