"Ambry Genetics"[submitter] AND "TCF12"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2276492	NM_207037.2(TCF12):c.107C>G (p.Thr36Ser)	TCF12 (T36S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2493112	NM_207037.2(TCF12):c.130A>G (p.Ser44Gly)	TCF12 (S44G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233962	NM_207037.2(TCF12):c.206C>T (p.Ser69Phe)	TCF12 (S69F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620987	NM_207037.2(TCF12):c.341G>A (p.Arg114Lys)	TCF12 (R56K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539294	NM_207037.2(TCF12):c.368A>G (p.Asp123Gly)	TCF12 (D135G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985867	NM_207037.2(TCF12):c.390+5G>A	TCF12	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2364039	NM_207037.2(TCF12):c.421G>A (p.Gly141Arg)	TCF12 (G153R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230991	NM_207037.2(TCF12):c.526+1G>A	TCF12	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2278796	NM_207037.2(TCF12):c.562C>T (p.Pro188Ser)	TCF12 (P130S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2274515	NM_207037.2(TCF12):c.580-11627T>C	TCF12 (Y2H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2461896	NM_207037.2(TCF12):c.584A>G (p.Tyr195Cys)	TCF12 (Y207C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267540	NM_207037.2(TCF12):c.605A>G (p.Asp202Gly)	TCF12 (D202G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986167	NM_207037.2(TCF12):c.798T>G (p.Tyr266Ter)	TCF12 (Y208* +4 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2324700	NM_207037.2(TCF12):c.908G>A (p.Ser303Asn)	TCF12 (S245N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306128	NM_207037.2(TCF12):c.922G>A (p.Val308Ile)	TCF12 (V138I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240688	NM_207037.2(TCF12):c.988G>T (p.Ala330Ser)	TCF12 (A330S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467675	NM_207037.2(TCF12):c.1234A>G (p.Met412Val)	TCF12 (M193V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2231526	NM_207037.2(TCF12):c.1268G>A (p.Arg423Gln)	TCF12 (R341Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495136	NM_207037.2(TCF12):c.1270A>G (p.Met424Val)	TCF12 (M230V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550516	NM_207037.2(TCF12):c.1296T>G (p.Asp432Glu)	TCF12 (D213E +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370260	NM_207037.2(TCF12):c.1415A>G (p.Asn472Ser)	TCF12 (N390S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2481455	NM_207037.2(TCF12):c.1457C>T (p.Ser486Leu)	TCF12 (S267L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543772	NM_207037.2(TCF12):c.1498C>T (p.Leu500Phe)	TCF12 (L240F +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475253	NM_207037.2(TCF12):c.1581A>C (p.Arg527Ser)	TCF12 (R267S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240394	NM_207037.2(TCF12):c.1597C>G (p.Gln533Glu)	TCF12 (Q475E +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274707	NM_207037.2(TCF12):c.1732A>G (p.Arg578Gly)	TCF12 (R359G +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269389	NM_207037.2(TCF12):c.1774C>T (p.Pro592Ser)	TCF12 (P422S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277131	NM_207037.2(TCF12):c.1820A>G (p.Asn607Ser)	TCF12 (N549S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521062	NM_207037.2(TCF12):c.1865A>G (p.Lys622Arg)	TCF12 (K622R +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228691	NM_207037.2(TCF12):c.2042dup (p.Ser682fs)	TCF12 (S512fs +9 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2597774	NM_207037.2(TCF12):c.2059A>G (p.Thr687Ala)	TCF12 (T517A +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 31