ClinVar for Gene (Select 2186) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239274	NM_182641.4(BPTF):c.7530G>T (p.Gln2510His)	BPTF (Q2510H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239198	NM_182641.4(BPTF):c.1584C>T (p.His528=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239144	NM_182641.4(BPTF):c.8049T>A (p.Pro2683=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3238801	NM_182641.4(BPTF):c.5489A>G (p.Tyr1830Cys)	BPTF (Y1830C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3237505	NM_182641.4(BPTF):c.5186A>C (p.Lys1729Thr)	BPTF (K1729T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3234905	NM_182641.4(BPTF):c.5980C>G (p.Gln1994Glu)	BPTF (Q1994E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3234626	NM_182641.4(BPTF):c.3798C>G (p.Ala1266=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234555	NM_182641.4(BPTF):c.6310A>G (p.Thr2104Ala)	BPTF (T2104A +1 more)	Single nucleotide variant (missense variant)	not provided	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 3134911	NM_182641.4(BPTF):c.7978T>A (p.Leu2660Met)	BPTF (L2643M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134910	NM_182641.4(BPTF):c.7942G>C (p.Asp2648His)	BPTF (D2631H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134909	NM_182641.4(BPTF):c.7766C>T (p.Ala2589Val)	BPTF (A2572V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134908	NM_182641.4(BPTF):c.7333C>T (p.Leu2445Phe)	BPTF (L2445F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134907	NM_182641.4(BPTF):c.7121C>T (p.Pro2374Leu)	BPTF (P2374L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134906	NM_182641.4(BPTF):c.6992C>T (p.Pro2331Leu)	BPTF (P2331L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3134904	NM_182641.4(BPTF):c.6173G>A (p.Arg2058His)	BPTF (R2184H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 3134889	NM_182641.4(BPTF):c.278G>C (p.Gly93Ala)	BPTF (G93A)	Single nucleotide variant (missense 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 3134887	NM_182641.4(BPTF):c.1847A>C (p.Glu616Ala)	BPTF (E616A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3134885	NM_182641.4(BPTF):c.1441G>C (p.Glu481Gln)	BPTF (E481Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068507	NM_182641.4(BPTF):c.7776dup (p.Arg2593fs)	BPTF (R2576fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 3068484	NM_182641.4(BPTF):c.8683G>A (p.Glu2895Lys)	BPTF (E2878K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 3067531	NM_182641.4(BPTF):c.321C>G (p.Gly107=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067271	NM_182641.4(BPTF):c.2061G>C (p.Leu687=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063529	GRCh37/hg19 17q24.2(chr17:65667922-65892990)x3	BPTF, NOL11 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062168	NM_182641.4(BPTF):c.8649del (p.Ser2883fs)	BPTF (S2866fs +1 more)	Deletion (frameshift variant)	See cases	GPathogenic
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 3055738	NM_182641.4(BPTF):c.1435A>T (p.Ile479Leu)	BPTF (I479L)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
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 3054137	NM_182641.4(BPTF):c.7794T>C (p.Ser2598=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	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 3050421	NM_182641.4(BPTF):c.77C>T (p.Pro26Leu)	BPTF (P26L)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 3046814	NM_182641.4(BPTF):c.8110T>C (p.Leu2704=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	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 3043804	NM_182641.4(BPTF):c.69C>T (p.Ala23=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
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 3032982	NM_182641.4(BPTF):c.456C>T (p.Ala152=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
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 3029491	NM_182641.4(BPTF):c.4104G>A (p.Glu1368=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
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 3027225	NM_182641.4(BPTF):c.3385A>G (p.Asn1129Asp)	BPTF (N1129D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026509	NM_182641.4(BPTF):c.6353A>G (p.Gln2118Arg)	BPTF (Q2118R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026410	NM_182641.4(BPTF):c.297C>G (p.Gly99=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026015	NM_182641.4(BPTF):c.1864+609A>G	BPTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025557	NM_182641.4(BPTF):c.8061T>A (p.Pro2687=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024276	NM_182641.4(BPTF):c.2812+3A>T	BPTF	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
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 3013819	NM_182641.4(BPTF):c.790C>G (p.Pro264Ala)	BPTF (P264A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013242	NM_182641.4(BPTF):c.4869C>T (p.Ser1623=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004052	NM_182641.4(BPTF):c.8180A>G (p.Lys2727Arg)	BPTF (K2727R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970451	NM_182641.4(BPTF):c.6001G>A (p.Val2001Ile)	BPTF (V2001I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2915646	NM_182641.4(BPTF):c.8455-3T>C	BPTF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2907736	NM_182641.4(BPTF):c.6125C>G (p.Ser2042Cys)	BPTF (S2042C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906068	NM_182641.4(BPTF):c.7009G>A (p.Gly2337Arg)	BPTF (G2463R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901689	NM_182641.4(BPTF):c.6867TCAGCCTGAAGTTCAGAC[1] (p.2291PEVQTQ[1])	BPTF	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2896675	NM_182641.4(BPTF):c.3634G>T (p.Asp1212Tyr)	BPTF (D1212Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894976	NM_182641.4(BPTF):c.3032G>A (p.Cys1011Tyr)	BPTF (C1011Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2893017	NM_182641.4(BPTF):c.6776A>T (p.Gln2259Leu)	BPTF (Q2385L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891308	NM_182641.4(BPTF):c.8235C>A (p.Ile2745=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888012	NM_182641.4(BPTF):c.4731A>G (p.Gly1577=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886426	NM_182641.4(BPTF):c.7692G>A (p.Glu2564=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885298	NM_182641.4(BPTF):c.3655A>G (p.Lys1219Glu)	BPTF (K1219E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2882709	NM_182641.4(BPTF):c.674C>T (p.Pro225Leu)	BPTF (P225L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881921	NM_182641.4(BPTF):c.4009G>C (p.Val1337Leu)	BPTF (V1337L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881661	NM_182641.4(BPTF):c.109G>C (p.Gly37Arg)	BPTF (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881225	NM_182641.4(BPTF):c.1388A>G (p.Tyr463Cys)	BPTF (Y463C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878994	NM_182641.4(BPTF):c.1865-5514T>C	BPTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878483	NM_182641.4(BPTF):c.8455-15_8455-13del	BPTF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2878138	NM_182641.4(BPTF):c.4210A>G (p.Thr1404Ala)	BPTF (T1404A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878029	NM_182641.4(BPTF):c.1946G>A (p.Arg649Gln)	BPTF (R649Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877532	NM_182641.4(BPTF):c.6389T>C (p.Ile2130Thr)	BPTF (I2130T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877079	NM_182641.4(BPTF):c.1661-12T>C	BPTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876277	NM_182641.4(BPTF):c.1448_1453del (p.Thr483_Glu484del)	BPTF	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2874352	NM_182641.4(BPTF):c.7926+13A>G	BPTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873999	NM_182641.4(BPTF):c.5752-19C>T	BPTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873752	NM_182641.4(BPTF):c.1864+598A>C	BPTF (N643H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872641	NM_182641.4(BPTF):c.1278G>A (p.Glu426=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871212	NM_182641.4(BPTF):c.7700+4G>T	BPTF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870845	NM_182641.4(BPTF):c.2564T>C (p.Ile855Thr)	BPTF (I981T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2870684	NM_182641.4(BPTF):c.8455-13T>G	BPTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870584	NM_182641.4(BPTF):c.247G>C (p.Ala83Pro)	BPTF (A83P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2870577	NM_182641.4(BPTF):c.7700+12G>A	BPTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869993	NM_182641.4(BPTF):c.6184A>C (p.Thr2062Pro)	BPTF (T2188P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869516	NM_182641.4(BPTF):c.1645C>T (p.Leu549=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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