ClinVar for Gene (Select 7159) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328211	NM_001031685.3(TP53BP2):c.2668G>A (p.Glu890Lys)	TP53BP2 (E890K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328210	NM_001031685.3(TP53BP2):c.2000A>G (p.Glu667Gly)	TP53BP2 (E538G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328209	NM_001031685.3(TP53BP2):c.2030C>G (p.Pro677Arg)	TP53BP2 (P548R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328208	NM_001031685.3(TP53BP2):c.1150A>G (p.Ile384Val)	TP53BP2 (I255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328207	NM_001031685.3(TP53BP2):c.1910T>C (p.Leu637Ser)	TP53BP2 (L637S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328206	NM_001031685.3(TP53BP2):c.1469T>C (p.Ile490Thr)	TP53BP2 (I361T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328205	NM_001031685.3(TP53BP2):c.2561C>G (p.Pro854Arg)	TP53BP2 (P854R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328203	NM_001031685.3(TP53BP2):c.26C>G (p.Pro9Arg)	TP53BP2 (P9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328202	NM_001031685.3(TP53BP2):c.16A>C (p.Lys6Gln)	TP53BP2 (K6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328201	NM_001031685.3(TP53BP2):c.811C>T (p.Arg271Cys)	TP53BP2 (R271C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328200	NM_001031685.3(TP53BP2):c.179G>A (p.Arg60His)	TP53BP2 (R60H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181425	NM_001031685.3(TP53BP2):c.92A>G (p.Glu31Gly)	TP53BP2 (E31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181424	NM_001031685.3(TP53BP2):c.417A>T (p.Glu139Asp)	TP53BP2 (E139D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181422	NM_001031685.3(TP53BP2):c.2931C>G (p.His977Gln)	TP53BP2 (H977Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181421	NM_001031685.3(TP53BP2):c.268C>A (p.Arg90Ser)	TP53BP2 (R90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181420	NM_001031685.3(TP53BP2):c.2498C>T (p.Ser833Phe)	TP53BP2 (S833F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181419	NM_001031685.3(TP53BP2):c.2453A>G (p.Asp818Gly)	TP53BP2 (D689G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181418	NM_001031685.3(TP53BP2):c.2407G>A (p.Glu803Lys)	TP53BP2 (E803K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181416	NM_001031685.3(TP53BP2):c.2039C>T (p.Pro680Leu)	TP53BP2 (P551L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181415	NM_001031685.3(TP53BP2):c.1810T>G (p.Phe604Val)	TP53BP2 (F475V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181414	NM_001031685.3(TP53BP2):c.1801C>T (p.Leu601Phe)	TP53BP2 (L601F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181412	NM_001031685.3(TP53BP2):c.1589T>G (p.Ile530Ser)	TP53BP2 (I530S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181411	NM_001031685.3(TP53BP2):c.1385C>T (p.Pro462Leu)	TP53BP2 (P333L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181410	NM_001031685.3(TP53BP2):c.1352T>A (p.Val451Asp)	TP53BP2 (V322D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181409	NM_001031685.3(TP53BP2):c.1351G>A (p.Val451Ile)	TP53BP2 (V322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3060937	NM_001031685.3(TP53BP2):c.175+9C>T	TP53BP2	Single nucleotide variant (intron variant)	TP53BP2-related disorder	GBenign
Select item 3060703	NM_001031685.3(TP53BP2):c.3027C>T (p.Asn1009=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3060669	NM_001031685.3(TP53BP2):c.2880C>G (p.Leu960=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3060461	NM_001031685.3(TP53BP2):c.1077G>A (p.Ser359=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3057760	NM_001031685.3(TP53BP2):c.1486-4A>G	TP53BP2	Single nucleotide variant (intron variant)	TP53BP2-related disorder	GLikely benign
Select item 3057025	NM_001031685.3(TP53BP2):c.685C>A (p.Gln229Lys)	TP53BP2 (Q100K +1 more)	Single nucleotide variant (missense variant)	TP53BP2-related disorder	GBenign
Select item 3053352	NM_001031685.3(TP53BP2):c.189G>A (p.Ala63=)	TP53BP2	Single nucleotide variant (synonymous variant +1 more)	TP53BP2-related disorder	GLikely benign
Select item 3047799	NM_001031685.3(TP53BP2):c.1993C>T (p.His665Tyr)	TP53BP2 (H536Y +1 more)	Single nucleotide variant (missense variant)	TP53BP2-related disorder	GLikely benign
Select item 3045810	NM_001031685.3(TP53BP2):c.1089T>G (p.Pro363=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GLikely benign
Select item 3045574	NM_001031685.3(TP53BP2):c.2643A>C (p.Pro881=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GLikely benign
Select item 3045305	NM_001031685.3(TP53BP2):c.2637A>C (p.Pro879=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GLikely benign
Select item 3042310	NM_001031685.3(TP53BP2):c.369C>T (p.Asn123=)	TP53BP2	Single nucleotide variant (synonymous variant +1 more)	TP53BP2-related disorder	GLikely benign
Select item 3041533	NM_001031685.3(TP53BP2):c.3318G>A (p.Ala1106=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3041173	NM_001031685.3(TP53BP2):c.2703C>T (p.Thr901=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 2691758	NM_001031685.3(TP53BP2):c.109G>A (p.Val37Met)	TP53BP2	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 2639922	NM_001031685.3(TP53BP2):c.1405G>A (p.Val469Ile)	TP53BP2 (V340I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639921	NM_001031685.3(TP53BP2):c.1762G>A (p.Val588Ile)	TP53BP2 (V459I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616151	NM_001031685.3(TP53BP2):c.1784C>T (p.Pro595Leu)	TP53BP2 (P466L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596898	NM_001031685.3(TP53BP2):c.316A>G (p.Ser106Gly)	TP53BP2 (S106G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588458	NM_001031685.3(TP53BP2):c.785A>G (p.Asn262Ser)	TP53BP2 (N133S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569323	NM_001031685.3(TP53BP2):c.1475G>A (p.Arg492Gln)	TP53BP2 (R492Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564145	NM_001031685.3(TP53BP2):c.1223A>G (p.Lys408Arg)	TP53BP2 (K408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559733	NM_001031685.3(TP53BP2):c.2252A>T (p.Asn751Ile)	TP53BP2 (N622I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559472	NM_001031685.3(TP53BP2):c.2080C>G (p.His694Asp)	TP53BP2 (H565D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548890	NM_001031685.3(TP53BP2):c.1145T>G (p.Leu382Trp)	TP53BP2 (L382W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547781	NM_001031685.3(TP53BP2):c.1004C>A (p.Ser335Tyr)	TP53BP2 (S335Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540767	NM_001031685.3(TP53BP2):c.1828G>T (p.Val610Leu)	TP53BP2 (V481L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532517	NM_001031685.3(TP53BP2):c.100T>C (p.Cys34Arg)	TP53BP2 (C34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528867	NM_001031685.3(TP53BP2):c.86C>T (p.Thr29Ile)	TP53BP2 (T29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523394	NM_001031685.3(TP53BP2):c.1679T>C (p.Leu560Pro)	TP53BP2 (L560P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522309	NM_001031685.3(TP53BP2):c.403G>C (p.Ala135Pro)	TP53BP2 (A135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521452	NM_001031685.3(TP53BP2):c.1765C>T (p.Arg589Trp)	TP53BP2 (R589W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517190	NM_001031685.3(TP53BP2):c.1237C>T (p.His413Tyr)	TP53BP2 (H284Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511341	NM_001031685.3(TP53BP2):c.2701A>G (p.Thr901Ala)	TP53BP2 (T772A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486486	NM_001031685.3(TP53BP2):c.252C>A (p.Phe84Leu)	TP53BP2 (F84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469374	NM_001031685.3(TP53BP2):c.2094A>C (p.Arg698Ser)	TP53BP2 (R698S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385829	NM_001031685.3(TP53BP2):c.3319C>T (p.Arg1107Cys)	TP53BP2 (R1107C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339915	NM_001031685.3(TP53BP2):c.3257A>G (p.Glu1086Gly)	TP53BP2 (E1086G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338878	NM_001031685.3(TP53BP2):c.448G>A (p.Ala150Thr)	TP53BP2 (A150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307263	NM_001031685.3(TP53BP2):c.2029C>A (p.Pro677Thr)	TP53BP2 (P677T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294058	NM_001031685.3(TP53BP2):c.1117G>A (p.Val373Met)	TP53BP2 (V244M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289652	NM_001031685.3(TP53BP2):c.1474C>T (p.Arg492Trp)	TP53BP2 (R363W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285783	NM_001031685.3(TP53BP2):c.2686C>T (p.Arg896Cys)	TP53BP2 (R767C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284244	NM_001031685.3(TP53BP2):c.2246G>A (p.Gly749Asp)	TP53BP2 (G749D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280767	NM_001031685.3(TP53BP2):c.3304G>A (p.Glu1102Lys)	TP53BP2 (E973K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260873	NM_001031685.3(TP53BP2):c.1007A>G (p.Asp336Gly)	TP53BP2 (D207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255991	NM_001031685.3(TP53BP2):c.2941G>A (p.Val981Ile)	TP53BP2 (V981I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251811	NM_001031685.3(TP53BP2):c.1030G>A (p.Ala344Thr)	TP53BP2 (A215T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248423	NM_001031685.3(TP53BP2):c.1298C>T (p.Ala433Val)	TP53BP2 (A304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243817	NM_001031685.3(TP53BP2):c.1219A>G (p.Thr407Ala)	TP53BP2 (T407A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240689	NM_001031685.3(TP53BP2):c.3034C>G (p.Gln1012Glu)	TP53BP2 (Q1012E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231855	NM_001031685.3(TP53BP2):c.1031C>T (p.Ala344Val)	TP53BP2 (A215V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2229308	NM_001031685.3(TP53BP2):c.1807C>T (p.Pro603Ser)	TP53BP2 (P474S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	CCDC185, CNIH4 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 789156	NM_001031685.3(TP53BP2):c.1905C>T (p.Ser635=)	TP53BP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788949	NM_001031685.3(TP53BP2):c.566C>T (p.Ala189Val)	TP53BP2 (A60V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788948	NM_001031685.3(TP53BP2):c.1902G>C (p.Gln634His)	TP53BP2 (Q634H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788290	NM_001031685.3(TP53BP2):c.1707C>T (p.Gly569=)	TP53BP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770862	NM_001031685.3(TP53BP2):c.268C>T (p.Arg90Cys)	TP53BP2 (R90C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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