"Ambry Genetics"[submitter] AND "LOC126859827"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3173216	NM_001292034.3(TAB2):c.772A>G (p.Thr258Ala)	LOC126859827, TAB2 (T258A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2867936	NM_001292034.3(TAB2):c.779C>T (p.Pro260Leu)	LOC126859827, TAB2 (P228L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3173217	NM_001292034.3(TAB2):c.935A>G (p.Tyr312Cys)	LOC126859827, TAB2 (Y312C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1695798	NM_001292034.3(TAB2):c.1025G>A (p.Arg342His)	LOC126859827, TAB2 (R310H +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2 +2 more	GUncertain significance
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 3173209	NM_001292034.3(TAB2):c.1499C>T (p.Thr500Ile)	LOC126859827, TAB2 (T500I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases +1 more	GUncertain significance