ClinVar for MedGen (Select 10819) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710086	NM_001080449.3(DNA2):c.442-768_587+648del	DNA2	Deletion (splice acceptor variant +1 more)	Rothmund-Thomson syndrome	GPathogenic
Select item 1710085	NM_001080449.3(DNA2):c.2208+2456_2403-18del	DNA2	Deletion (splice acceptor variant +1 more)	Rothmund-Thomson syndrome	GPathogenic
Select item 1710084	NC_000010.11:g.68413754_68420303del	DNA2, LOC132089842 +1 more	Deletion	Rothmund-Thomson syndrome	GPathogenic
Select item 1710083	NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)	DNA2 (I571fs)	Duplication (frameshift variant +1 more)	Rothmund-Thomson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1710082	NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)	DNA2 (L48P)	Single nucleotide variant (missense variant +1 more)	Rothmund-Thomson syndrome	GLikely pathogenic
Select item 1710081	NM_001080449.3(DNA2):c.588-2214A>G	DNA2	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome	GPathogenic
Select item 666982	NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)	RECQL4 (Y363*)	Single nucleotide variant (nonsense)	Rothmund-Thomson syndrome +1 more	GPathogenic/Likely pathogenic
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 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 570383	NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser)	RECQL4 (G1166S)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome +3 more	GUncertain significance
Select item 561097	NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter)	RECQL4 (W383*)	Single nucleotide variant (nonsense)	Baller-Gerold syndrome +1 more	GPathogenic
Select item 559922	NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs)	RECQL4 (D779fs)	Deletion (frameshift variant)	Rothmund-Thomson syndrome	GLikely pathogenic
Select item 559921	NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)	RECQL4 (R1099fs)	Insertion (frameshift variant)	Rothmund-Thomson syndrome	GLikely pathogenic
Select item 529019	NM_004260.4(RECQL4):c.2486G>A (p.Arg829His)	RECQL4 (R829H)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome +3 more	GUncertain significance
Select item 529017	NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln)	RECQL4 (R1181Q)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome +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)	Rothmund-Thomson syndrome +2 more	GConflicting classifications of pathogenicity
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 459395	NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln)	RECQL4 (R784Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 459388	NM_004260.4(RECQL4):c.221_222del (p.Glu74fs)	RECQL4 (E74fs)	Microsatellite (frameshift variant)	Baller-Gerold syndrome	GPathogenic
Select item 459358	NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly)	RECQL4 (R647G)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome +2 more	GUncertain significance
Select item 459352	NM_004260.4(RECQL4):c.1892G>A (p.Arg631His)	RECQL4 (R631H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 459346	NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln)	RECQL4 (R618Q)	Single nucleotide variant (missense variant)	Baller-Gerold 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 +4 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 407010	NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln)	RECQL4 (R751Q)	Single nucleotide variant (missense variant)	not provided +4 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)	Rothmund-Thomson syndrome type 2 +5 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 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 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)	Baller-Gerold syndrome +4 more	GConflicting classifications of pathogenicity
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 259258	NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr)	RECQL4 (S523T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 239773	NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser)	RECQL4 (P129S)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +2 more	GConflicting classifications of pathogenicity
Select item 239694	NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys)	RECQL4 (E407K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 239693	NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)	RECQL4 (G387R)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +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)	Rothmund-Thomson syndrome +3 more	GUncertain significance
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 135144	NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly)	RECQL4 (R1058G)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +5 more	GConflicting classifications of pathogenicity
Select item 135133	NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)	RECQL4 (R623H)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome +6 more	GConflicting classifications of pathogenicity
Select item 6066	NM_004260.4(RECQL4):c.1573del (p.Cys525fs)	RECQL4	Deletion (frameshift variant)	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) +8 more	GPathogenic
Select item 6063	NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)	RECQL4 (Q757*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic

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Items: 51