TAB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 147845	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1	GINM1, KATNA1 +69 more	Copy number loss	See cases	GPathogenic
Select item 153235	GRCh38/hg38 6q25.1(chr6:149056723-149435037)x1	LOC123881328, LOC126859826 +26 more	Copy number loss	See cases	GUncertain significance
Select item 146298	GRCh38/hg38 6q25.1(chr6:149333404-149527861)x3	LOC126859827, LOC129997426 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2572342	NM_001292034.3(TAB2):c.-90+24822_-90+24823del	TAB2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1291138	NM_001292034.3(TAB2):c.-89-320A>C	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272854	NM_001292034.3(TAB2):c.-89-308A>G	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198922	NM_001292034.3(TAB2):c.-89-238G>A	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228180	NM_001292034.3(TAB2):c.-89-16TTTC[4]	TAB2	Microsatellite (intron variant)	not provided	GBenign
Select item 2025560	NM_001292034.3(TAB2):c.10G>A (p.Gly4Arg)	TAB2 (G4R)	Single nucleotide variant (missense variant +1 more)	not provided	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 2976031	NM_001292034.3(TAB2):c.18C>T (p.His6=)	TAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1540615	NM_001292034.3(TAB2):c.21A>G (p.Gln7=)	TAB2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 2 +1 more	GBenign/Likely benign
Select item 2311437	NM_001292034.3(TAB2):c.22A>G (p.Ile8Val)	TAB2 (I8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1908034	NM_001292034.3(TAB2):c.25G>A (p.Asp9Asn)	TAB2 (D9N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662697	NM_001292034.3(TAB2):c.50G>A (p.Arg17Gln)	TAB2 (R17Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2631202	NM_001292034.3(TAB2):c.80_84delinsAGG (p.Val27fs)	TAB2 (V27fs)	Indel (frameshift variant +1 more)	TAB2-related disorder	GLikely pathogenic
Select item 1710651	NM_001292034.3(TAB2):c.82G>A (p.Val28Ile)	TAB2 (V28I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2756093	NM_001292034.3(TAB2):c.89G>A (p.Arg30Lys)	TAB2 (R30K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957697	NM_001292034.3(TAB2):c.102+10del	TAB2	Deletion (intron variant)	not provided	GLikely benign
Select item 1604811	NM_001292034.3(TAB2):c.102+12A>G	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021319	NM_001292034.3(TAB2):c.102+14G>A	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925940	NM_001292034.3(TAB2):c.102+17T>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668967	NM_001292034.3(TAB2):c.102+17T>G	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235661	NM_001292034.3(TAB2):c.102+58del	TAB2	Deletion (intron variant)	not provided	GBenign
Select item 1259650	NM_001292034.3(TAB2):c.102+120T>G	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295410	NM_001292034.3(TAB2):c.103-252G>T	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234365	NM_001292034.3(TAB2):c.103-201_103-198del	TAB2	Deletion (intron variant)	not provided	GBenign
Select item 1174413	NM_001292034.3(TAB2):c.103-138A>T	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970595	NM_001292034.3(TAB2):c.103-12T>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432811	NM_001292034.3(TAB2):c.103A>G (p.Asn35Asp)	TAB2 (N35D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446063	NM_001292034.3(TAB2):c.104A>G (p.Asn35Ser)	TAB2 (N35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173208	NM_001292034.3(TAB2):c.119A>T (p.Asp40Val)	TAB2 (D40V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2956478	NM_001292034.3(TAB2):c.138C>T (p.Leu46=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917778	NM_001292034.3(TAB2):c.145G>A (p.Glu49Lys)	TAB2 (E17K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729745	NM_001292034.3(TAB2):c.156A>G (p.Arg52=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1594687	NM_001292034.3(TAB2):c.165T>C (p.Tyr55=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891002	NM_001292034.3(TAB2):c.166G>A (p.Gly56Ser)	TAB2 (G56S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803739	NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)	TAB2 (I36T +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2 +1 more	GUncertain significance
Select item 3006848	NM_001292034.3(TAB2):c.207T>C (p.Ser69=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3173212	NM_001292034.3(TAB2):c.214C>T (p.Arg72Cys)	TAB2 (R40C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446657	NM_001292034.3(TAB2):c.251C>T (p.Ser84Leu)	TAB2 (S52L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985634	NM_001292034.3(TAB2):c.253_254del (p.Gln85fs)	TAB2 (Q53fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 373469	NM_001292034.3(TAB2):c.251C>A (p.Ser84Ter)	TAB2 (S84* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1699675	NM_001292034.3(TAB2):c.255G>C (p.Gln85His)	TAB2 (Q53H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473981	NM_001292034.3(TAB2):c.259A>C (p.Ile87Leu)	TAB2 (I87L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400161	NM_001292034.3(TAB2):c.277G>A (p.Glu93Lys)	TAB2 (E61K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174368	NM_001292034.3(TAB2):c.282A>G (p.Gly94=)	TAB2	Single nucleotide variant (synonymous variant)	TAB2-related disorder +1 more	GBenign/Likely benign
Select item 1030405	NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys)	TAB2 (R64K +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2 +1 more	GUncertain significance
Select item 3173213	NM_001292034.3(TAB2):c.288G>C (p.Arg96Ser)	TAB2 (R64S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662869	NM_001292034.3(TAB2):c.297A>G (p.Gly99=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2577979	NM_001292034.3(TAB2):c.308dup (p.Thr104fs)	TAB2 (T104fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1309279	NM_001292034.3(TAB2):c.311C>T (p.Thr104Met)	TAB2 (T104M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 798677	NM_001292034.3(TAB2):c.324T>C (p.Ser108=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354201	NM_001292034.3(TAB2):c.332A>G (p.Gln111Arg)	TAB2 (Q79R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886521	NM_001292034.3(TAB2):c.333A>G (p.Gln111=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367314	NM_001292034.3(TAB2):c.333A>C (p.Gln111His)	TAB2 (Q79H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176639	NM_001292034.3(TAB2):c.344G>T (p.Gly115Val)	TAB2 (G115V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533432	NM_001292034.3(TAB2):c.351C>T (p.Ser117=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368867	NM_001292034.3(TAB2):c.352A>T (p.Asn118Tyr)	TAB2 (N118Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2823906	NM_001292034.3(TAB2):c.355A>T (p.Ser119Cys)	TAB2 (S119C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749532	NM_001292034.3(TAB2):c.355A>G (p.Ser119Gly)	TAB2 (S119G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554981	NM_001292034.3(TAB2):c.375G>A (p.Glu125=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1414562	NM_001292034.3(TAB2):c.388C>G (p.Pro130Ala)	TAB2 (P130A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490423	NM_001292034.3(TAB2):c.397G>A (p.Val133Ile)	TAB2 (V101I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1949294	NM_001292034.3(TAB2):c.401C>T (p.Pro134Leu)	TAB2 (P102L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372702	NM_001292034.3(TAB2):c.403C>T (p.Gln135Ter)	TAB2 (Q135* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2231928	NM_001292034.3(TAB2):c.431G>C (p.Ser144Thr)	TAB2 (S144T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1588254	NM_001292034.3(TAB2):c.438T>C (p.Ser146=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2979772	NM_001292034.3(TAB2):c.462T>G (p.His154Gln)	TAB2 (H122Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1551556	NM_001292034.3(TAB2):c.472C>T (p.His158Tyr)	TAB2 (H126Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1469137	NM_001292034.3(TAB2):c.473A>G (p.His158Arg)	TAB2 (H126R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957187	NM_001292034.3(TAB2):c.474C>T (p.His158=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862721	NM_001292034.3(TAB2):c.500T>A (p.Leu167His)	TAB2 (L135H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666818	NM_001292034.3(TAB2):c.507A>G (p.Gln169=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636950	NM_001292034.3(TAB2):c.508C>A (p.Gln170Lys)	TAB2 (Q138K +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 1396868	NM_001292034.3(TAB2):c.509A>G (p.Gln170Arg)	TAB2 (Q170R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956884	NM_001292034.3(TAB2):c.518G>A (p.Arg173Lys)	TAB2 (R141K +1 more)	Single nucleotide variant (missense variant)	not provided	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 3173214	NM_001292034.3(TAB2):c.550A>G (p.Asn184Asp)	TAB2 (N152D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2882350	NM_001292034.3(TAB2):c.565C>T (p.Arg189Cys)	TAB2 (R189C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428421	NM_001292034.3(TAB2):c.566G>A (p.Arg189His)	TAB2 (R157H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2983470	NM_001292034.3(TAB2):c.577A>G (p.Thr193Ala)	TAB2 (T161A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314886	NM_001292034.3(TAB2):c.588C>T (p.His196=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1300827	NM_001292034.3(TAB2):c.597T>G (p.Gly199=)	TAB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1802104	NM_001292034.3(TAB2):c.608_609insA (p.Val204fs)	TAB2 (V172fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1420715	NM_001292034.3(TAB2):c.617A>G (p.Asn206Ser)	TAB2 (N174S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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
Select item 2550589	NM_001292034.3(TAB2):c.625C>A (p.Gln209Lys)	TAB2 (Q177K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3030535	NM_001292034.3(TAB2):c.629G>A (p.Gly210Glu)	TAB2 (G178E +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance

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