Related gene-specific medical variations for Gene (Select 7158) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	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_001141980.3(TP53BP1):c.*2990G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793020	NM_001141980.3(TP53BP1):c.*2813C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2761778	NM_001141980.3(TP53BP1):c.*3718T>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2707528	NM_001141980.3(TP53BP1):c.*2988C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2346229	NM_001141980.3(TP53BP1):c.5761G>A (p.Val1921Ile)	TP53BP1, TUBGCP4 (V1919I +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332623	NM_001141980.3(TP53BP1):c.5753C>G (p.Ala1918Gly)	TUBGCP4, TP53BP1 (A1913G +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 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 2124309	NM_014444.5(TUBGCP4):c.1911del (p.Asn638fs)	TP53BP1, TUBGCP4 (N639fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2110836	NM_001141980.3(TP53BP1):c.2981_2983del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2110630	NM_014444.5(TUBGCP4):c.1810G>A (p.Asp604Asn)	TP53BP1, TUBGCP4 (D604N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2102341	NM_001141980.3(TP53BP1):c.*3714A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2100317	NM_001141980.3(TP53BP1):c.*3711A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097750	NM_001141980.3(TP53BP1):c.*3718T>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2044433	NM_014444.5(TUBGCP4):c.1989T>C (p.Ser663=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2026986	NM_001141980.3(TP53BP1):c.*2188A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1999023	NM_014444.5(TUBGCP4):c.1843G>C (p.Val615Leu)	TP53BP1, TUBGCP4 (V616L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975092	NM_001141980.3(TP53BP1):c.*2976GA[2]	TP53BP1, TUBGCP4	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1968980	NM_001141980.3(TP53BP1):c.*3714AG[1]	TUBGCP4, TP53BP1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1961952	NM_001141980.3(TP53BP1):c.*2815C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1955792	NM_001141980.3(TP53BP1):c.*2981A>G	TP53BP1, TUBGCP4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1944439	NM_014444.5(TUBGCP4):c.1816C>T (p.Arg606Cys)	TP53BP1, TUBGCP4 (R607C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942656	NM_001141980.3(TP53BP1):c.*2198G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1939987	NM_001141980.3(TP53BP1):c.*3577G>C	TUBGCP4, TP53BP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1938622	NM_014444.5(TUBGCP4):c.1899G>C (p.Arg633=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926943	NM_001141980.3(TP53BP1):c.*2814C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1925083	NM_001141980.3(TP53BP1):c.*3571del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1908738	NM_001141980.3(TP53BP1):c.*3567C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1899962	NM_001141980.3(TP53BP1):c.*3717G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1651871	NM_001141980.3(TP53BP1):c.*2811T>C	TP53BP1, TUBGCP4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1640427	NM_001141980.3(TP53BP1):c.*3572A>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1534669	NM_001141980.3(TP53BP1):c.*2197A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1533638	NM_014444.5(TUBGCP4):c.1842C>T (p.Leu614=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1532711	NM_014444.5(TUBGCP4):c.1782G>A (p.Ser594=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1532637	NM_001141980.3(TP53BP1):c.2987_2988dup	TP53BP1, TUBGCP4	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1530989	NM_001141980.3(TP53BP1):c.*2194A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1525981	NM_001141980.3(TP53BP1):c.5306-2A>G	TUBGCP4, TP53BP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 1513915	NM_001141980.3(TP53BP1):c.*3579C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1497593	NM_014444.5(TUBGCP4):c.1858C>T (p.Arg620Cys)	TP53BP1, TUBGCP4 (R621C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477273	NM_014444.5(TUBGCP4):c.1946A>C (p.Asp649Ala)	TP53BP1, TUBGCP4 (D649A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461201	NM_001141980.3(TP53BP1):c.*2826C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1454253	NM_014444.5(TUBGCP4):c.1784dup (p.Val596fs)	TP53BP1, TUBGCP4 (V596fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1435888	NM_014444.5(TUBGCP4):c.1825G>T (p.Ala609Ser)	TP53BP1, TUBGCP4 (A609S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1420126	NM_014444.5(TUBGCP4):c.1817G>A (p.Arg606His)	TP53BP1, TUBGCP4 (R606H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1410082	NM_001141980.3(TP53BP1):c.2193_2200del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1388231	NM_014444.5(TUBGCP4):c.1880A>G (p.Lys627Arg)	TP53BP1, TUBGCP4 (K627R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1378746	NM_001141980.3(TP53BP1):c.*3706C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1370123	NM_014444.5(TUBGCP4):c.1778G>A (p.Cys593Tyr)	TP53BP1, TUBGCP4 (C594Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369895	NM_014444.5(TUBGCP4):c.1825G>A (p.Ala609Thr)	TP53BP1, TUBGCP4 (A609T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1338423	NM_001141980.3(TP53BP1):c.3580_3581del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1337041	NM_014444.5(TUBGCP4):c.1993G>A (p.Gly665Arg)	TP53BP1, TUBGCP4 (G665R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1325318	NM_014444.5(TUBGCP4):c.1939C>T (p.Arg647Ter)	TP53BP1, TUBGCP4 (R647* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1305035	NM_014444.5(TUBGCP4):c.1849G>T (p.Gly617Cys)	TP53BP1, TUBGCP4 (G617C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1297553	NM_014444.5(TUBGCP4):c.1733T>C (p.Val578Ala)	TP53BP1, TUBGCP4 (V578A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1274313	NM_001141980.3(TP53BP1):c.*2488G>A	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1255356	NM_001141980.3(TP53BP1):c.*3412dup	TP53BP1, TUBGCP4	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1145870	NM_014444.5(TUBGCP4):c.1740C>T (p.His580=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1126820	NM_014444.5(TUBGCP4):c.1939C>A (p.Arg647=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1113005	NM_014444.5(TUBGCP4):c.1926T>C (p.Ala642=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1112285	NM_014444.5(TUBGCP4):c.1992C>T (p.Phe664=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1087293	NM_014444.5(TUBGCP4):c.1950T>C (p.Tyr650=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086276	NM_001141980.3(TP53BP1):c.*2189A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1053716	NM_014444.5(TUBGCP4):c.1998G>A (p.Met666Ile)	TUBGCP4, TP53BP1 (M666I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1046474	NM_014444.5(TUBGCP4):c.1760A>C (p.Asp587Ala)	TP53BP1, TUBGCP4 (D588A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1036151	NM_001141980.3(TP53BP1):c.*3705C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 953297	NM_014444.5(TUBGCP4):c.1898G>A (p.Arg633Gln)	TP53BP1, TUBGCP4 (R633Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 848433	NM_014444.5(TUBGCP4):c.1843G>T (p.Val615Leu)	TP53BP1, TUBGCP4 (V615L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 770785	NM_001141980.3(TP53BP1):c.5490T>C (p.Cys1830=)	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 741414	NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu)	TP53BP1, TUBGCP4 (S594L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly and chorioretinopathy 3 +1 more	GLikely benign
Select item 437139	NM_014444.5(TUBGCP4):c.1965C>A (p.Thr655=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 190123	NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	TUBGCP4, TP53BP1	Single nucleotide variant (synonymous variant +1 more)	TUBGCP4-related condition +3 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74