ClinVar for Gene (Select 7158) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328199	NM_001141980.3(TP53BP1):c.4345C>T (p.Pro1449Ser)	TP53BP1 (P1444S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328198	NM_001141980.3(TP53BP1):c.5917G>A (p.Asp1973Asn)	TP53BP1, TUBGCP4 (D1968N +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3328197	NM_001141980.3(TP53BP1):c.4333G>A (p.Val1445Met)	TP53BP1 (V485M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328196	NM_001141980.3(TP53BP1):c.1656T>G (p.Asp552Glu)	TP53BP1 (D552E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328195	NM_001141980.3(TP53BP1):c.1321A>G (p.Ile441Val)	TP53BP1 (I436V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3328193	NM_001141980.3(TP53BP1):c.1655A>G (p.Asp552Gly)	TP53BP1 (D547G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328192	NM_001141980.3(TP53BP1):c.5119C>T (p.Pro1707Ser)	TP53BP1 (P1702S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328191	NM_001141980.3(TP53BP1):c.1924G>A (p.Ala642Thr)	TP53BP1 (A642T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328190	NM_001141980.3(TP53BP1):c.1885G>C (p.Gly629Arg)	TP53BP1 (G629R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328189	NM_001141980.3(TP53BP1):c.683A>G (p.Asn228Ser)	TP53BP1 (N223S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328188	NM_001141980.3(TP53BP1):c.2684A>G (p.His895Arg)	TP53BP1 (H895R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328187	NM_001141980.3(TP53BP1):c.1430A>G (p.Asn477Ser)	TP53BP1 (N477S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328186	NM_001141980.3(TP53BP1):c.4079G>A (p.Arg1360Gln)	TP53BP1 (R400Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328185	NM_001141980.3(TP53BP1):c.2130G>C (p.Lys710Asn)	TP53BP1 (K705N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328184	NM_001141980.3(TP53BP1):c.772A>C (p.Asn258His)	TP53BP1 (N258H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328182	NM_001141980.3(TP53BP1):c.139A>G (p.Met47Val)	TP53BP1 (M42V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3328181	NM_001141980.3(TP53BP1):c.1244A>G (p.Gln415Arg)	TP53BP1 (Q415R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328180	NM_001141980.3(TP53BP1):c.689A>C (p.Asp230Ala)	TP53BP1 (D225A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328179	NM_001141980.3(TP53BP1):c.2066T>C (p.Met689Thr)	TP53BP1 (M684T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184812	NM_014444.5(TUBGCP4):c.1799T>C (p.Leu600Pro)	TP53BP1, TUBGCP4 (L600P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3181407	NM_001141980.3(TP53BP1):c.941A>G (p.Gln314Arg)	TP53BP1 (Q309R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181406	NM_001141980.3(TP53BP1):c.869T>C (p.Met290Thr)	TP53BP1 (M290T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181405	NM_001141980.3(TP53BP1):c.665A>G (p.Lys222Arg)	TP53BP1 (K222R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181404	NM_001141980.3(TP53BP1):c.5813G>A (p.Cys1938Tyr)	TP53BP1, TUBGCP4 (C1888Y +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3181403	NM_001141980.3(TP53BP1):c.4538G>A (p.Arg1513Gln)	TP53BP1 (R553Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181402	NM_001141980.3(TP53BP1):c.4288A>G (p.Ile1430Val)	TP53BP1 (I1425V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181401	NM_001141980.3(TP53BP1):c.4270C>G (p.Pro1424Ala)	TP53BP1 (P1424A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181400	NM_001141980.3(TP53BP1):c.4256C>T (p.Thr1419Ile)	TP53BP1 (T1419I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181399	NM_001141980.3(TP53BP1):c.4054G>A (p.Ala1352Thr)	TP53BP1 (A1352T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181398	NM_001141980.3(TP53BP1):c.415G>A (p.Glu139Lys)	TP53BP1 (E139K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181397	NM_001141980.3(TP53BP1):c.3899C>T (p.Ser1300Phe)	TP53BP1 (S1300F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181396	NM_001141980.3(TP53BP1):c.3761T>G (p.Leu1254Arg)	TP53BP1 (L1249R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181395	NM_001141980.3(TP53BP1):c.3631C>T (p.Pro1211Ser)	TP53BP1 (P1211S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181394	NM_001141980.3(TP53BP1):c.3148G>A (p.Glu1050Lys)	TP53BP1 (E1050K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181392	NM_001141980.3(TP53BP1):c.3055G>C (p.Glu1019Gln)	TP53BP1 (E1014Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181391	NM_001141980.3(TP53BP1):c.3026A>G (p.Gln1009Arg)	TP53BP1 (Q1004R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181390	NM_001141980.3(TP53BP1):c.2706A>C (p.Glu902Asp)	TP53BP1 (E897D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181389	NM_001141980.3(TP53BP1):c.2528T>G (p.Val843Gly)	TP53BP1 (V843G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181388	NM_001141980.3(TP53BP1):c.2183T>A (p.Ile728Asn)	TP53BP1 (I723N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181387	NM_001141980.3(TP53BP1):c.2120G>C (p.Cys707Ser)	TP53BP1 (C707S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181386	NM_001141980.3(TP53BP1):c.1802A>G (p.Asp601Gly)	TP53BP1 (D596G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181385	NM_001141980.3(TP53BP1):c.1754G>A (p.Ser585Asn)	TP53BP1 (S580N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181384	NM_001141980.3(TP53BP1):c.1727C>T (p.Pro576Leu)	TP53BP1 (P571L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181383	NM_001141980.3(TP53BP1):c.1516C>T (p.Pro506Ser)	TP53BP1 (P501S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181382	NM_001141980.3(TP53BP1):c.1366C>G (p.Pro456Ala)	TP53BP1 (P451A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181381	NM_001141980.3(TP53BP1):c.1277C>A (p.Pro426His)	TP53BP1 (P421H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181380	NM_001141980.3(TP53BP1):c.130C>T (p.His44Tyr)	TP53BP1 (H39Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181378	NM_001141980.3(TP53BP1):c.1121C>G (p.Ala374Gly)	TP53BP1 (A369G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181377	NM_001141980.3(TP53BP1):c.1114C>T (p.Pro372Ser)	TP53BP1 (P372S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3055052	NM_001141980.3(TP53BP1):c.5696C>G (p.Thr1899Ser)	TP53BP1, TUBGCP4 (T1849S +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP53BP1-related disorder	GLikely benign
Select item 3040718	NM_001141980.3(TP53BP1):c.5257C>T (p.Arg1753Cys)	TP53BP1 (R1703C +4 more)	Single nucleotide variant (missense variant)	TP53BP1-related disorder	GLikely benign
Select item 3008304	NM_014444.5(TUBGCP4):c.1824C>T (p.Ala608=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810591	NM_014444.5(TUBGCP4):c.1849-20C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793020	NM_014444.5(TUBGCP4):c.1988+18G>A	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2761778	NM_014444.5(TUBGCP4):c.1732-18A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2707528	NM_014444.5(TUBGCP4):c.1849-18G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2619753	NM_001141980.3(TP53BP1):c.3715C>A (p.His1239Asn)	TP53BP1 (H1239N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612137	NM_001141980.3(TP53BP1):c.2071A>G (p.Ser691Gly)	TP53BP1 (S691G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606052	NM_014444.5(TUBGCP4):c.1891A>G (p.Ser631Gly)	TP53BP1, TUBGCP4 (S632G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605311	NM_001141980.3(TP53BP1):c.782C>G (p.Pro261Arg)	TP53BP1 (P256R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604160	NM_001141980.3(TP53BP1):c.1804A>G (p.Ile602Val)	TP53BP1 (I597V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601588	NM_001141980.3(TP53BP1):c.1807A>T (p.Ser603Cys)	TP53BP1 (S598C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591336	NM_001141980.3(TP53BP1):c.5165A>T (p.Glu1722Val)	TP53BP1 (E1672V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590460	NM_001141980.3(TP53BP1):c.680C>T (p.Ser227Phe)	TP53BP1 (S222F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562390	NM_001141980.3(TP53BP1):c.633G>C (p.Arg211Ser)	TP53BP1 (R206S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561940	NM_001141980.3(TP53BP1):c.3443T>C (p.Leu1148Ser)	TP53BP1 (L188S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529142	NM_001141980.3(TP53BP1):c.815A>G (p.Lys272Arg)	TP53BP1 (K272R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515894	NM_001141980.3(TP53BP1):c.3259A>C (p.Thr1087Pro)	TP53BP1 (T1082P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513304	NM_001141980.3(TP53BP1):c.1838A>G (p.Glu613Gly)	TP53BP1 (E613G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510963	NM_001141980.3(TP53BP1):c.1813T>A (p.Leu605Ile)	TP53BP1 (L600I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466186	NM_001141980.3(TP53BP1):c.4046C>T (p.Thr1349Ile)	TP53BP1 (T1349I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465600	NM_001141980.3(TP53BP1):c.1294A>C (p.Thr432Pro)	TP53BP1 (T432P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460215	NM_001141980.3(TP53BP1):c.2374T>C (p.Trp792Arg)	TP53BP1 (W792R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457893	NM_001141980.3(TP53BP1):c.3951A>T (p.Leu1317Phe)	TP53BP1 (L1312F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411713	NM_001141980.3(TP53BP1):c.3095C>T (p.Ala1032Val)	TP53BP1 (A1032V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409716	NM_001141980.3(TP53BP1):c.1189A>G (p.Met397Val)	TP53BP1 (M392V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366392	NM_001141980.3(TP53BP1):c.5099G>T (p.Gly1700Val)	TP53BP1 (G740V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366391	NM_001141980.3(TP53BP1):c.3176C>T (p.Pro1059Leu)	TP53BP1 (P1054L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366229	NM_001141980.3(TP53BP1):c.329G>A (p.Ser110Asn)	TP53BP1 (S110N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358504	NM_001141980.3(TP53BP1):c.4996A>G (p.Met1666Val)	TP53BP1 (M1616V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351480	NM_001141980.3(TP53BP1):c.3164G>T (p.Ser1055Ile)	TP53BP1 (S1055I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346229	NM_001141980.3(TP53BP1):c.5761G>A (p.Val1921Ile)	TP53BP1, TUBGCP4 (V1919I +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2337917	NM_001141980.3(TP53BP1):c.4752G>T (p.Lys1584Asn)	TP53BP1 (K1579N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334663	NM_001141980.3(TP53BP1):c.3652G>A (p.Asp1218Asn)	TP53BP1 (D1218N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332623	NM_001141980.3(TP53BP1):c.5753C>G (p.Ala1918Gly)	TP53BP1, TUBGCP4 (A1913G +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2311932	NM_001141980.3(TP53BP1):c.5264A>T (p.Lys1755Ile)	TP53BP1 (K1755I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304128	NM_001141980.3(TP53BP1):c.2329T>C (p.Cys777Arg)	TP53BP1 (C772R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297460	NM_001141980.3(TP53BP1):c.1143C>G (p.Ile381Met)	TP53BP1 (I381M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288785	NM_001141980.3(TP53BP1):c.5291G>T (p.Ser1764Ile)	TP53BP1 (S1764I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281207	NM_001141980.3(TP53BP1):c.1193A>G (p.Asp398Gly)	TP53BP1 (D393G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280988	NM_001141980.3(TP53BP1):c.1959G>A (p.Met653Ile)	TP53BP1 (M648I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277414	NM_001141980.3(TP53BP1):c.2895G>A (p.Met965Ile)	TP53BP1 (M5I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269219	NM_014444.5(TUBGCP4):c.1964C>A (p.Thr655Asn)	TP53BP1, TUBGCP4 (T655N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264579	NM_001141980.3(TP53BP1):c.2327C>T (p.Ser776Phe)	TP53BP1 (S776F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261098	NM_001141980.3(TP53BP1):c.143T>C (p.Leu48Pro)	TP53BP1 (L43P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257024	NM_001141980.3(TP53BP1):c.5116A>T (p.Ser1706Cys)	TP53BP1 (S1656C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244079	NM_014444.5(TUBGCP4):c.1992C>G (p.Phe664Leu)	TP53BP1, TUBGCP4 (F665L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240952	NM_001141980.3(TP53BP1):c.1769A>G (p.Lys590Arg)	TP53BP1 (K585R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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