ClinVar for MedGen (Select 65085) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24417801.	NM_001379200.1(TBX1):c.437+1G>C GRCh37: Chr22:19748804 GRCh38: Chr22:19761281	TBX1		DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 24316632.	NM_001370466.1(NOD2):c.-8-2532G>T GRCh37: Chr16:50730867 GRCh38: Chr16:50696956	NOD2		Velocardiofacial syndrome	Uncertain significance (Feb 13, 2023)	criteria provided, single submitter
Select item 17099753.	NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp) GRCh37: Chr22:19750799 GRCh38: Chr22:19763276	TBX1	G149D, G158D	Velocardiofacial syndrome	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 16846404.	Single allele GRCh38: Chr22:18948677-21110520	CDC45, CLDN5, CLTCL1, COMT, AIFM3, ARVCF, C22orf39, CCDC188, CRKL, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, DGCR9, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, THAP7-AS1, TRMT2A, TSSK2, TXNRD2, UFD1, UFD1-AS1, USP41, ZDHHC8, ZNF74		Velocardiofacial syndrome	Pathogenic (Oct 4, 2021)	criteria provided, single submitter
Select item 16846395.	Single allele GRCh38: Chr22:18948676-21110520	SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, UFD1, UFD1-AS1, USP41, ZDHHC8, ZNF74, AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, DGCR9, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, TBX1, THAP7, THAP7-AS1, TRMT2A, TSSK2, TXNRD2		Velocardiofacial syndrome, Short stature, Immunodeficiency, Complete atrioventricular canal defect, Recurrent hypoglycemia, Neonatal hypoglycemia, Generalized-onset seizure, Neonatal respiratory distress, Hypokalemia, Decreased body weight, Neonatal inspiratory stridorAplasia of the thymus, Maternal hypertension, ...see more	Pathogenic (Jul 5, 2021)	criteria provided, single submitter
Select item 14148446.	NM_001379200.1(TBX1):c.711+3G>A GRCh37: Chr22:19751852 GRCh38: Chr22:19764329	TBX1		DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot, Conotruncal heart malformations, DiGeorge syndrome	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13828627.	NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg) GRCh37: Chr22:19752509 GRCh38: Chr22:19764986	TBX1	Q247R, Q238R	Velocardiofacial syndrome, Conotruncal heart malformations, DiGeorge syndrome, Tetralogy of Fallot, DiGeorge syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11147968.	NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) GRCh37: Chr22:19753430 GRCh38: Chr22:19765907	TBX1	R305Q, R314Q	DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome, DiGeorge syndrome, Tetralogy of Fallot	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10609879.	NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1]) GRCh37: Chr22:19754028-19754036 GRCh38: Chr22:19766505-19766513	TBX1		Velocardiofacial syndrome, DiGeorge syndrome, Tetralogy of Fallot, Conotruncal heart malformations, DiGeorge syndrome	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101227310.	NM_000371.4(TTR):c.[239C>T];[424G>A]			Amyloidogenic transthyretin amyloidosis	Pathogenic (Feb 15, 2021)	no assertion criteria provided
Select item 99254311.	NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) GRCh37: Chr22:19753948 GRCh38: Chr22:19766425	TBX1	A349G, A358G	Velocardiofacial syndrome, Conotruncal heart malformations, DiGeorge syndrome, Tetralogy of Fallot	Uncertain significance (Aug 13, 2020)	criteria provided, single submitter
Select item 97322212.	NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) GRCh37: Chr22:19750829 GRCh38: Chr22:19763306	TBX1	L159P, L168P	Tetralogy of Fallot, Velocardiofacial syndrome, DiGeorge syndrome	Likely pathogenic (May 16, 2018)	criteria provided, single submitter
Select item 93448613.	NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) GRCh37: Chr22:19752592 GRCh38: Chr22:19765069	TBX1	E266K, E275K	DiGeorge syndrome, Tetralogy of Fallot, Conotruncal heart malformations, Velocardiofacial syndrome, DiGeorge syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 85892214.	NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) GRCh37: Chr22:19754023-19754024 GRCh38: Chr22:19766500-19766501	TBX1		DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome, Tetralogy of Fallot, DiGeorge syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80364315.	NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) GRCh37: Chr22:19754089 GRCh38: Chr22:19766566	TBX1	P396L, P405L	Velocardiofacial syndrome, Conotruncal heart malformations, Tetralogy of Fallot, DiGeorge syndrome, not specified, not provided, DiGeorge syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80027416.	NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) GRCh37: Chr22:19754053 GRCh38: Chr22:19766530	TBX1	P384Q, P393Q	DiGeorge syndrome, Velocardiofacial syndrome, Conotruncal heart malformations, DiGeorge syndrome, Tetralogy of Fallot	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66644317.	GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 GRCh37: Chr22:18661724-21505417	AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74		Velocardiofacial syndrome, DiGeorge syndrome	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 63693918.	NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del) GRCh37: Chr22:19748516-19748596 GRCh38: Chr22:19760993-19761073	TBX1		not provided, Velocardiofacial syndrome, Conotruncal heart malformations, Tetralogy of Fallot, DiGeorge syndrome, DiGeorge syndrome	Uncertain significance (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63628419.	GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 GRCh37: Chr22:18919477-21800471	KLHL22, LZTR1, MED15, MRPL40, P2RX6, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, PI4KA, ARVCF, AIFM3, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74		Velocardiofacial syndrome, DiGeorge syndrome	Pathogenic (Mar 2, 2019)	no assertion criteria provided
Select item 63628320.	GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 GRCh37: Chr22:18636749-21800471	ARVCF, C22orf39, SLC25A1, SLC7A4, SNAP29, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74, TANGO2, TBX1, CLTCL1, COMT, CRKL, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, DGCR2, DGCR6, CDC45, CLDN5, FAM230A, GGT2, GGTLC3, AIFM3, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1		Velocardiofacial syndrome, DiGeorge syndrome	Pathogenic (Mar 2, 2019)	no assertion criteria provided
Select item 63628221.	GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 GRCh37: Chr22:18922151-21449911	AIFM3, CLDN5, CLTCL1, COMT, GP1BB, GSC2, RANBP1, RIMBP3, RTL10, GGTLC3, GNB1L, ARVCF, C22orf39, CDC45, PI4KA, PRODH, RTN4R, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74		Velocardiofacial syndrome, DiGeorge syndrome	Pathogenic (Mar 2, 2019)	no assertion criteria provided
Select item 63628122.	GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 GRCh37: Chr22:18631364-21800471	DGCR6, DGCR6L, ZNF74, GNB1L, GP1BB, GSC2, RIMBP3, RIMBP3B, RTL10, HIC2, DGCR8, ESS2, FAM230A, PI4KA, PRODH, RANBP1, GGT2, GGTLC3, AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8		Velocardiofacial syndrome, DiGeorge syndrome	Pathogenic (Mar 2, 2019)	no assertion criteria provided
Select item 63628023.	GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 GRCh37: Chr22:18912231-21465672	GGTLC3, GNB1L, GP1BB, SERPIND1, SLC25A1, SLC7A4, TANGO2, TBX1, SNAP29, GSC2, PI4KA, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, PRODH, RANBP1, AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74		Velocardiofacial syndrome, DiGeorge syndrome	Pathogenic (Mar 2, 2019)	no assertion criteria provided
Select item 62617824.	NM_001379200.1(TBX1):c.351C>T (p.Ala117=) GRCh37: Chr22:19748717 GRCh38: Chr22:19761194	TBX1		Cardiovascular phenotype, Tetralogy of Fallot, Velocardiofacial syndrome, Conotruncal heart malformations, DiGeorge syndrome	Conflicting interpretations of pathogenicity (Dec 23, 2019)	criteria provided, conflicting interpretations
Select item 59893125.	NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) GRCh37: Chr22:19754276 GRCh38: Chr22:19766753	TBX1		Cardiovascular phenotype, DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome, DiGeorge syndrome, Tetralogy of Fallot	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 51871526.	NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) GRCh37: Chr22:19753951 GRCh38: Chr22:19766428	TBX1	G350D, G359D	Cardiovascular phenotype, not provided, Velocardiofacial syndrome, Tetralogy of Fallot, Conotruncal heart malformations, DiGeorge syndrome, DiGeorge syndrome	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 1342627.	NM_000371.4(TTR):c.424G>A (p.Val142Ile) GRCh37: Chr18:29178618 GRCh38: Chr18:31598655	TTR	V142I	ATTRV122I amyloidosis, ZTTK syndrome, Carpal tunnel syndrome 1, Amyloidogenic transthyretin amyloidosis, Hyperthyroxinemia, dystransthyretinemic, Cardiovascular phenotype, Developmental and epileptic encephalopathy, 41, Charcot-Marie-Tooth disease, not provided, Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-relatedCataract 3 multiple types, Amyloidogenic transthyretin amyloidosis, Velocardiofacial syndrome, Osteogenesis imperfecta type 11, Cytochrome-c oxidase deficiency disease, Postural tremor, Bone marrow hypocellularity, Anemia, Pancytopenia, See cases, ...see more	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 756728.	NM_001379200.1(TBX1):c.609C>G (p.His203Gln) GRCh37: Chr22:19751747 GRCh38: Chr22:19764224	TBX1	H194Q, H203Q	Velocardiofacial syndrome	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 756629.	NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs) GRCh37: Chr22:19754195-19754217 GRCh38: Chr22:19766672-19766694	TBX1	P444fs, P435fs	Velocardiofacial syndrome	Pathogenic (May 16, 2006)	no assertion criteria provided

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Items: 29