ClinVar for MedGen (Select 767193) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359038	NM_001292034.3(TAB2):c.2050T>C (p.Cys684Arg)	TAB2 (C652R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 3255073	NM_001292034.3(TAB2):c.1813_1814delinsC (p.Asp605fs)	TAB2 (D573fs +1 more)	Indel (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3255071	NM_001292034.3(TAB2):c.363_364insGTTA (p.Phe122fs)	TAB2 (F122fs +1 more)	Insertion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3254807	NM_001292034.3(TAB2):c.379C>T (p.Gln127Ter)	TAB2 (Q127* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3068516	NM_001292034.3(TAB2):c.1020_1021del (p.Lys340fs)	LOC126859827, TAB2 (K308fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3064559	NM_001292034.3(TAB2):c.1739C>A (p.Ser580Ter)	TAB2 (S548* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 3024330	NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)	LOC126859827, TAB2 (A499fs +1 more)	Indel (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2627254	NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)	LOC126859827, TAB2 (R484fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2627070	NM_001292034.3(TAB2):c.1522del (p.Asp508fs)	LOC126859827, TAB2 (D476fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2506347	NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)	LOC126859827, TAB2 (I337fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2505202	NM_001292034.3(TAB2):c.1572del (p.Ser524fs)	LOC126859827, TAB2 (S492fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2444290	NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)	LOC126859827, TAB2 (E469* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2443078	NM_001292034.3(TAB2):c.1056del (p.Ser353fs)	LOC126859827, TAB2 (S321fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2441831	NM_001292034.3(TAB2):c.473_474del (p.His158fs)	TAB2 (H126fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2436925	NM_001292034.3(TAB2):c.1580C>T (p.Ser527Phe)	LOC126859827, TAB2 (S495F +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2 +1 more	GUncertain significance
Select item 2436924	NM_001292034.3(TAB2):c.17A>G (p.His6Arg)	TAB2 (H6R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 2431471	NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)	LOC126859827, TAB2 (P446fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 1805200	NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)	LOC126859827, TAB2 (T456fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 1803739	NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)	TAB2 (I36T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708259	NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu)	TAB2 (P151L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 1695798	NM_001292034.3(TAB2):c.1025G>A (p.Arg342His)	LOC126859827, TAB2 (R310H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1686244	NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter)	LOC126859827, TAB2 (Y465* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 1683671	NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter)	LOC126859827, TAB2 (Y336* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 1540615	NM_001292034.3(TAB2):c.21A>G (p.Gln7=)	TAB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1454884	NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter)	LOC126859827, TAB2 (R420* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1329629	NM_001292034.3(TAB2):c.1535C>G (p.Ala512Gly)	LOC126859827, TAB2 (A480G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328249	NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs)	LOC126859827, TAB2 (S415fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325168	NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter)	LOC126859827, TAB2 (Q240* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 1048629	NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter)	TAB2 (S149* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 1032655	NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu)	LOC126859827, TAB2 (P353L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 1030405	NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys)	TAB2 (R64K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030404	NM_001292034.3(TAB2):c.1764+1G>A	TAB2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 996746	NM_001292034.3(TAB2):c.1398dup (p.Thr467fs)	LOC126859827, TAB2 (T435fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 976750	NM_001292034.3(TAB2):c.622_626del (p.Pro208fs)	TAB2 (P176fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 974837	NM_001292034.3(TAB2):c.1526del (p.Pro509fs)	LOC126859827, TAB2 (P477fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 695114	NM_001292034.3(TAB2):c.441del (p.Ala148fs)	TAB2 (A116fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827, TAB2 (R227* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2 +4 more	GPathogenic/Likely pathogenic
Select item 561123	NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter)	LOC126859827, TAB2 (Y497* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 561115	NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr)	TAB2 (C684Y +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 488615	NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter)	LOC126859827, TAB2 (R441* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 488614	NM_001292034.3(TAB2):c.878del (p.Ser293fs)	LOC126859827, TAB2 (S261fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 5212	NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys)	LOC126859827, TAB2 (Q230K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5211	NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser)	TAB2 (P208S +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GPathogenic

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Links from MedGen

Items: 43