"Ambry Genetics"[submitter] AND "TAB2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 985634	NM_001292034.3(TAB2):c.253_254del (p.Gln85fs)	TAB2 (Q53fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
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 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 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 1428421	NM_001292034.3(TAB2):c.566G>A (p.Arg189His)	TAB2 (R157H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827, TAB2 (R227* +1 more)	Single nucleotide variant (nonsense)	Encephalopathy +3 more	GPathogenic/Likely pathogenic
Select item 2395000	NM_001292034.3(TAB2):c.975G>C (p.Gln325His)	LOC126859827, TAB2 (Q293H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258053	NM_001292034.3(TAB2):c.1010A>G (p.Asn337Ser)	LOC126859827, TAB2 (N305S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2255673	NM_001292034.3(TAB2):c.1037C>T (p.Pro346Leu)	LOC126859827, TAB2 (P314L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313509	NM_001292034.3(TAB2):c.1153C>T (p.Pro385Ser)	LOC126859827, TAB2 (P353S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1374419	NM_001292034.3(TAB2):c.1327A>G (p.Ile443Val)	LOC126859827, TAB2 (I411V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1443448	NM_001292034.3(TAB2):c.1348T>A (p.Ser450Thr)	LOC126859827, TAB2 (S418T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2611784	NM_001292034.3(TAB2):c.1526C>T (p.Pro509Leu)	LOC126859827, TAB2 (P477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500799	NM_001292034.3(TAB2):c.1561C>T (p.Arg521Trp)	LOC126859827, TAB2 (R521W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2328869	NM_001292034.3(TAB2):c.1747A>C (p.Ile583Leu)	TAB2 (I583L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467850	NM_001002255.2(SUMO4):c.27A>C (p.Glu9Asp)	SUMO4, TAB2 (E9D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512211	NM_001002255.2(SUMO4):c.99G>T (p.Lys33Asn)	SUMO4, TAB2 (K33N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373964	NM_001002255.2(SUMO4):c.199A>G (p.Ile67Val)	TAB2, SUMO4 (I67V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287941	NM_001002255.2(SUMO4):c.214A>G (p.Lys72Glu)	SUMO4, TAB2 (K72E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21