ClinVar for MedGen (Select 65085) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235917	NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr)	TBX1 (A21T)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome +1 more	GLikely pathogenic
Select item 2582525	NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)	TBX1 (Y237H +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +2 more	GUncertain significance
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2505066	NM_080646.2(TBX1):c.1143_1149delinsTGGGTATTG (p.Phe382fs)	TBX1 (F382fs)	Indel (frameshift variant +1 more)	Conotruncal heart malformations +3 more	Gnot provided
Select item 2441780	NM_001379200.1(TBX1):c.437+1G>C	TBX1	Single nucleotide variant (splice donor variant)	DiGeorge syndrome +2 more	GLikely pathogenic
Select item 2086566	NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)	TBX1	Deletion (inframe_deletion)	DiGeorge syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2001091	NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)	TBX1 (P439T +1 more)	Single nucleotide variant (missense variant +1 more)	Conotruncal heart malformations +3 more	GConflicting classifications of pathogenicity
Select item 1934268	NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)	TBX1 (A335V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1709975	NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)	TBX1 (G149D +1 more)	Single nucleotide variant (missense variant)	Velocardiofacial syndrome	GUncertain significance
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1414844	NM_001379200.1(TBX1):c.711+3G>A	TBX1	Single nucleotide variant (intron variant)	Tetralogy of Fallot +3 more	GUncertain significance
Select item 1382862	NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)	TBX1 (Q247R +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +3 more	GUncertain significance
Select item 1378052	NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)	TBX1 (C62* +1 more)	Single nucleotide variant (nonsense)	DiGeorge syndrome	GPathogenic
Select item 1213748	NM_001379200.1(TBX1):c.623C>T (p.Ser208Leu)	TBX1 (S199L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1114796	NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	TBX1 (R305Q +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1060987	NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])	TBX1	Microsatellite (inframe_deletion +1 more)	DiGeorge syndrome +3 more	GUncertain significance
Select item 992543	NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)	TBX1 (A349G +1 more)	Single nucleotide variant (missense variant +1 more)	Velocardiofacial syndrome +3 more	GUncertain significance
Select item 973222	NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)	TBX1 (L159P +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +2 more	GLikely pathogenic
Select item 934486	NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	TBX1 (E266K +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +4 more	GConflicting classifications of pathogenicity
Select item 858922	NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)	TBX1	Insertion (inframe_insertion +1 more)	Velocardiofacial syndrome +3 more	GUncertain significance
Select item 803643	NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)	TBX1 (P396L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 800274	NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)	TBX1 (P384Q +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome +4 more	GConflicting classifications of pathogenicity
Select item 666443	GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1	KLHL22, LZTR1 +45 more	Copy number loss	DiGeorge syndrome +1 more	GPathogenic
Select item 636939	NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)	TBX1	Deletion (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 636284	GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1	C22orf39, CDC45 +47 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 636283	GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1	C22orf39, AIFM3 +49 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 636282	GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1	TRMT2A, USP41 +44 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 636281	GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1	MRPL40, TANGO2 +49 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 636280	GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1	PI4KA, PRODH +44 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 626178	NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	TBX1	Single nucleotide variant (synonymous variant)	Tetralogy of Fallot +4 more	GConflicting classifications of pathogenicity
Select item 598931	NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 518715	NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)	TBX1 (G350D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 7567	NM_001379200.1(TBX1):c.609C>G (p.His203Gln)	TBX1 (H194Q +1 more)	Single nucleotide variant (missense variant)	Velocardiofacial syndrome	GPathogenic
Select item 7566	NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)	TBX1 (P444fs +1 more)	Deletion (frameshift variant +1 more)	Velocardiofacial syndrome	GPathogenic

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Items: 35