"BPTF-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290490	NM_182641.4(BPTF):c.36C>G (p.Pro12=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3043804	NM_182641.4(BPTF):c.69C>T (p.Ala23=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 3050421	NM_182641.4(BPTF):c.77C>T (p.Pro26Leu)	BPTF (P26L)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 1971132	NM_182641.4(BPTF):c.135C>T (p.Gly45=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2634841	NM_182641.4(BPTF):c.206G>A (p.Gly69Glu)	BPTF (G69E)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2630382	NM_182641.4(BPTF):c.248C>G (p.Ala83Gly)	BPTF (A83G)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 1675688	NM_182641.4(BPTF):c.287G>C (p.Gly96Ala)	BPTF (G96A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1970928	NM_182641.4(BPTF):c.396GGA[1] (p.Glu136_Glu138del)	BPTF, LOC130061496	Microsatellite (inframe_deletion)	BPTF-related disorder +1 more	GLikely benign
Select item 1971233	NM_182641.4(BPTF):c.429GGA[8] (p.Glu148_Asp149insGluGlu)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2855584	NM_182641.4(BPTF):c.429GGA[5] (p.Glu148del)	BPTF, LOC130061496 (E148del)	Microsatellite (inframe_deletion)	BPTF-related disorder +1 more	GLikely benign
Select item 3032982	NM_182641.4(BPTF):c.456C>T (p.Ala152=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 1970967	NM_182641.4(BPTF):c.480C>G (p.Asp160Glu)	BPTF, LOC130061496 (D160E)	Single nucleotide variant (missense variant)	BPTF-related disorder +1 more	GBenign
Select item 1806224	NM_182641.4(BPTF):c.542ACG[4] (p.Asp185del)	BPTF, LOC130061496 (D185del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 1970951	NM_182641.4(BPTF):c.570G>A (p.Thr190=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1971726	NM_182641.4(BPTF):c.604A>G (p.Ser202Gly)	BPTF, LOC130061496 (S202G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2628420	NM_182641.4(BPTF):c.653T>C (p.Ile218Thr)	BPTF (I218T)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2076804	NM_182641.4(BPTF):c.1026C>T (p.His342=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder +1 more	GLikely benign
Select item 3055738	NM_182641.4(BPTF):c.1435A>T (p.Ile479Leu)	BPTF (I479L)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 3029276	NM_182641.4(BPTF):c.1633A>C (p.Asn545His)	BPTF (N545H)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2220972	NM_182641.4(BPTF):c.1657A>G (p.Asn553Asp)	BPTF (N553D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3046691	NM_182641.4(BPTF):c.1707_1712del (p.Asn569_Val570del)	BPTF	Deletion (inframe deletion)	BPTF-related disorder	GBenign
Select item 2341819	NM_182641.4(BPTF):c.2126A>G (p.Asn709Ser)	BPTF (N835S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2648128	NM_182641.4(BPTF):c.2376T>C (p.Pro792=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder +1 more	GBenign/Likely benign
Select item 2635925	NM_182641.4(BPTF):c.2805A>C (p.Leu935Phe)	BPTF (L1061F +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2070743	NM_182641.4(BPTF):c.3298A>G (p.Lys1100Glu)	BPTF (K1100E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 711691	NM_182641.4(BPTF):c.3412C>G (p.Gln1138Glu)	BPTF (Q1264E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2038551	NM_182641.4(BPTF):c.3447A>T (p.Arg1149Ser)	BPTF (R1149S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2636429	NM_182641.4(BPTF):c.3460A>C (p.Ser1154Arg)	BPTF (S1154R +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 3040280	NM_182641.4(BPTF):c.3673_3674delinsAC (p.Asp1225Thr)	BPTF (D1225T +1 more)	Indel (missense variant)	BPTF-related disorder	GUncertain significance
Select item 3029491	NM_182641.4(BPTF):c.4104G>A (p.Glu1368=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 2636603	NM_182641.4(BPTF):c.4335A>T (p.Lys1445Asn)	BPTF (K1445N +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 3061197	NM_182641.4(BPTF):c.4360T>C (p.Ser1454Pro)	BPTF (S1454P +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2173125	NM_182641.4(BPTF):c.4488C>T (p.Asn1496=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2068241	NM_182641.4(BPTF):c.4887_4889del (p.Thr1631del)	BPTF (T1631del +1 more)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3029770	NM_182641.4(BPTF):c.4976C>T (p.Thr1659Met)	BPTF (T1659M +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GLikely benign
Select item 2041953	NM_182641.4(BPTF):c.5304-8C>T	BPTF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2045443	NM_182641.4(BPTF):c.5391G>A (p.Ala1797=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3055338	NM_182641.4(BPTF):c.5568A>C (p.Thr1856=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 749067	NM_182641.4(BPTF):c.5621C>T (p.Thr1874Met)	BPTF (T1874M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 781388	NM_182641.4(BPTF):c.5805A>G (p.Pro1935=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder +1 more	GBenign
Select item 3018719	NM_182641.4(BPTF):c.6000C>T (p.Gly2000=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder +1 more	GLikely benign
Select item 2046586	NM_182641.4(BPTF):c.6103A>G (p.Ile2035Val)	BPTF (I2161V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2474006	NM_182641.4(BPTF):c.6133A>C (p.Thr2045Pro)	BPTF (T2045P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2632839	NM_182641.4(BPTF):c.6170T>A (p.Ile2057Asn)	BPTF (I2057N +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 781330	NM_182641.4(BPTF):c.6285A>G (p.Gln2095=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder +1 more	GBenign
Select item 2635935	NM_182641.4(BPTF):c.6385A>G (p.Asn2129Asp)	BPTF (N2129D +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2152856	NM_182641.4(BPTF):c.6453A>G (p.Gln2151=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635479	NM_182641.4(BPTF):c.6920C>G (p.Ser2307Cys)	BPTF (S2307C +1 more)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 3054137	NM_182641.4(BPTF):c.7794T>C (p.Ser2598=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 2187396	NM_182641.4(BPTF):c.7803G>A (p.Gln2601=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2041490	NM_182641.4(BPTF):c.8034A>G (p.Pro2678=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder +1 more	GLikely benign
Select item 3051404	NM_182641.4(BPTF):c.8055T>A (p.Pro2685=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 3051339	NM_182641.4(BPTF):c.8067T>A (p.Pro2689=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 2202597	NM_182641.4(BPTF):c.8077G>A (p.Val2693Met)	BPTF (V2693M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3046814	NM_182641.4(BPTF):c.8110T>C (p.Leu2704=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign

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Items: 55