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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134905	NM_182641.4(BPTF):c.64C>A (p.Pro22Thr)	BPTF (P22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134912	NM_182641.4(BPTF):c.92C>T (p.Pro31Leu)	BPTF (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1977352	NM_182641.4(BPTF):c.145G>A (p.Gly49Ser)	BPTF (G49S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2546058	NM_182641.4(BPTF):c.146G>C (p.Gly49Ala)	BPTF (G49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693493	NM_182641.4(BPTF):c.209dup (p.Ser71fs)	BPTF (S71fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3134888	NM_182641.4(BPTF):c.203G>C (p.Arg68Thr)	BPTF (R68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973293	NM_182641.4(BPTF):c.205G>C (p.Gly69Arg)	BPTF (G69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439545	NM_182641.4(BPTF):c.206G>C (p.Gly69Ala)	BPTF (G69A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2399558	NM_182641.4(BPTF):c.208G>T (p.Gly70Cys)	BPTF (G70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972001	NM_182641.4(BPTF):c.229CCG[7] (p.Pro82_Ala83insPro)	BPTF	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 2229892	NM_182641.4(BPTF):c.247_248insGCCCCCCCCCCCCCC (p.Ala83delinsGlyProProProProPro)	BPTF	Insertion (inframe_indel)	Inborn genetic diseases	GUncertain significance
Select item 828184	NM_182641.4(BPTF):c.255del (p.Ser86fs)	BPTF (S86fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2333796	NM_182641.4(BPTF):c.251C>T (p.Pro84Leu)	BPTF (P84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972442	NM_182641.4(BPTF):c.262A>G (p.Ser88Gly)	BPTF (S88G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3134889	NM_182641.4(BPTF):c.278G>C (p.Gly93Ala)	BPTF (G93A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675688	NM_182641.4(BPTF):c.287G>C (p.Gly96Ala)	BPTF (G96A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2301017	NM_182641.4(BPTF):c.300_314del (p.Arg101_Gly105del)	BPTF	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3261412	NM_182641.4(BPTF):c.296G>A (p.Gly99Asp)	BPTF (G99D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553277	NM_182641.4(BPTF):c.334G>T (p.Ala112Ser)	BPTF (A112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261402	NM_182641.4(BPTF):c.350C>T (p.Ala117Val)	BPTF (A117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134897	NM_182641.4(BPTF):c.475G>A (p.Glu159Lys)	BPTF, LOC130061496 (E159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3261408	NM_182641.4(BPTF):c.497T>C (p.Met166Thr)	LOC130061496, BPTF (M166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241792	NM_182641.4(BPTF):c.512A>G (p.Asp171Gly)	BPTF, LOC130061496 (D171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1971726	NM_182641.4(BPTF):c.604A>G (p.Ser202Gly)	BPTF, LOC130061496 (S202G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2334803	NM_182641.4(BPTF):c.644G>A (p.Arg215His)	BPTF (R215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805684	NM_182641.4(BPTF):c.1074G>C (p.Glu358Asp)	BPTF (E358D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 2404108	NM_182641.4(BPTF):c.1193A>G (p.Lys398Arg)	BPTF (K398R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3134885	NM_182641.4(BPTF):c.1441G>C (p.Glu481Gln)	BPTF (E481Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985493	NM_182641.4(BPTF):c.1447dup (p.Thr483fs)	BPTF (T483fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3134886	NM_182641.4(BPTF):c.1454A>G (p.Asn485Ser)	BPTF (N485S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383639	NM_182641.4(BPTF):c.1575A>C (p.Glu525Asp)	BPTF (E525D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2160241	NM_182641.4(BPTF):c.1637A>G (p.Lys546Arg)	BPTF (K546R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2560007	NM_182641.4(BPTF):c.1649C>A (p.Ala550Glu)	BPTF (A550E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2220972	NM_182641.4(BPTF):c.1657A>G (p.Asn553Asp)	BPTF (N553D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3261406	NM_182641.4(BPTF):c.1714A>C (p.Ser572Arg)	BPTF (S572R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134887	NM_182641.4(BPTF):c.1847A>C (p.Glu616Ala)	BPTF (E616A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533012	NM_182641.4(BPTF):c.1847A>G (p.Glu616Gly)	BPTF (E616G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313031	NM_182641.4(BPTF):c.1850A>G (p.Gln617Arg)	BPTF (Q617R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295802	NM_182641.4(BPTF):c.1901T>C (p.Leu634Pro)	BPTF (L634P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341819	NM_182641.4(BPTF):c.2126A>G (p.Asn709Ser)	BPTF (N835S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2337387	NM_182641.4(BPTF):c.2135A>G (p.Asn712Ser)	BPTF (N838S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3261421	NM_182641.4(BPTF):c.2299G>A (p.Gly767Ser)	BPTF (G767S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985444	NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs)	BPTF (T783fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 431073	NM_182641.4(BPTF):c.2366del (p.Asn789fs)	BPTF (N789fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2343374	NM_182641.4(BPTF):c.2506A>T (p.Met836Leu)	BPTF (M836L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520550	NM_182641.4(BPTF):c.2598dup (p.Glu867fs)	BPTF (E867fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2264351	NM_182641.4(BPTF):c.2821A>C (p.Asn941His)	BPTF (N1067H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134890	NM_182641.4(BPTF):c.3158A>G (p.Lys1053Arg)	BPTF (K1053R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134891	NM_182641.4(BPTF):c.3202A>G (p.Ile1068Val)	BPTF (I1068V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2070743	NM_182641.4(BPTF):c.3298A>G (p.Lys1100Glu)	BPTF (K1100E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2590121	NM_182641.4(BPTF):c.3313T>G (p.Ser1105Ala)	BPTF (S1105A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2048614	NM_182641.4(BPTF):c.3356C>T (p.Ser1119Leu)	BPTF (S1245L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2265286	NM_182641.4(BPTF):c.3361A>G (p.Arg1121Gly)	BPTF (R1121G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460876	NM_182641.4(BPTF):c.3478C>T (p.Leu1160Phe)	BPTF (L1160F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2439550	NM_182641.4(BPTF):c.3481T>C (p.Tyr1161His)	BPTF (Y1161H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 2271572	NM_182641.4(BPTF):c.3487A>G (p.Lys1163Glu)	BPTF (K1163E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316221	NM_182641.4(BPTF):c.3493C>G (p.Arg1165Gly)	BPTF (R1165G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231335	NM_182641.4(BPTF):c.3512C>T (p.Ser1171Phe)	BPTF (S1297F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487211	NM_182641.4(BPTF):c.3518G>A (p.Arg1173Gln)	BPTF (R1299Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3134893	NM_182641.4(BPTF):c.3646G>A (p.Asp1216Asn)	BPTF (D1216N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522444	NM_182641.4(BPTF):c.3707C>T (p.Pro1236Leu)	BPTF (P1362L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2059545	NM_182641.4(BPTF):c.3721G>A (p.Glu1241Lys)	BPTF (E1367K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2310914	NM_182641.4(BPTF):c.3724A>G (p.Ser1242Gly)	BPTF (S1242G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327378	NM_182641.4(BPTF):c.3755C>T (p.Ala1252Val)	BPTF (A1252V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198201	NM_182641.4(BPTF):c.3814G>A (p.Ala1272Thr)	BPTF (A1398T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2598906	NM_182641.4(BPTF):c.3817A>G (p.Met1273Val)	BPTF (M1399V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474251	NM_182641.4(BPTF):c.3917T>C (p.Met1306Thr)	BPTF (M1306T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065684	NM_182641.4(BPTF):c.4016G>A (p.Gly1339Asp)	BPTF (G1339D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2072219	NM_182641.4(BPTF):c.4151C>A (p.Thr1384Asn)	BPTF (T1384N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3134894	NM_182641.4(BPTF):c.4178G>A (p.Arg1393Gln)	BPTF (R1519Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134895	NM_182641.4(BPTF):c.4249T>C (p.Tyr1417His)	BPTF (Y1543H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2034788	NM_182641.4(BPTF):c.4313C>T (p.Pro1438Leu)	BPTF (P1438L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2314164	NM_182641.4(BPTF):c.4352A>G (p.Asp1451Gly)	BPTF (D1451G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134896	NM_182641.4(BPTF):c.4354A>G (p.Ile1452Val)	BPTF (I1578V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232990	NM_182641.4(BPTF):c.4454C>T (p.Ser1485Leu)	BPTF (S1485L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556784	NM_182641.4(BPTF):c.4481A>G (p.Glu1494Gly)	BPTF (E1494G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467674	NM_182641.4(BPTF):c.4582G>C (p.Val1528Leu)	BPTF (V1528L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509337	NM_182641.4(BPTF):c.4600A>G (p.Met1534Val)	BPTF (M1660V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261420	NM_182641.4(BPTF):c.4645A>G (p.Ile1549Val)	BPTF (I1549V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2510322	NM_182641.4(BPTF):c.4769C>T (p.Thr1590Met)	BPTF (T1716M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527470	NM_182641.4(BPTF):c.4864A>G (p.Lys1622Glu)	BPTF (K1622E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216352	NM_182641.4(BPTF):c.4867T>G (p.Ser1623Ala)	BPTF (S1623A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2068241	NM_182641.4(BPTF):c.4887_4889del (p.Thr1631del)	BPTF (T1631del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2261756	NM_182641.4(BPTF):c.4936A>G (p.Ile1646Val)	BPTF (I1646V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029770	NM_182641.4(BPTF):c.4976C>T (p.Thr1659Met)	BPTF (T1659M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227367	NM_182641.4(BPTF):c.5008G>A (p.Gly1670Ser)	BPTF (G1670S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134898	NM_182641.4(BPTF):c.5096C>T (p.Thr1699Ile)	BPTF (T1825I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322931	NM_182641.4(BPTF):c.5186A>G (p.Lys1729Arg)	BPTF (K1729R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134899	NM_182641.4(BPTF):c.5213G>A (p.Arg1738Gln)	BPTF (R1738Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134900	NM_182641.4(BPTF):c.5293A>G (p.Ile1765Val)	BPTF (I1891V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261404	NM_182641.4(BPTF):c.5404C>G (p.Pro1802Ala)	BPTF (P1802A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134901	NM_182641.4(BPTF):c.5744A>T (p.Gln1915Leu)	BPTF (Q1915L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286421	NM_182641.4(BPTF):c.5752-3T>C	BPTF	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3134902	NM_182641.4(BPTF):c.5756G>A (p.Arg1919Gln)	BPTF (R1919Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180123	NM_182641.4(BPTF):c.5774C>T (p.Pro1925Leu)	BPTF (P1925L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3134903	NM_182641.4(BPTF):c.5776A>T (p.Thr1926Ser)	BPTF (T2052S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372083	NM_182641.4(BPTF):c.5783T>C (p.Ile1928Thr)	BPTF (I1928T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2184692	NM_182641.4(BPTF):c.5813G>A (p.Ser1938Asn)	BPTF (S1938N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2330415	NM_182641.4(BPTF):c.5836G>A (p.Ala1946Thr)	BPTF (A1946T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597214	NM_182641.4(BPTF):c.5878A>G (p.Thr1960Ala)	BPTF (T2086A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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