Related gene-specific medical variations for Gene (Select 27229) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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)	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 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)	TUBGCP4, TP53BP1 (N639fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2110836	NM_014444.5(TUBGCP4):c.1849-11_1849-9del	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_014444.5(TUBGCP4):c.1732-14T>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2100317	NM_014444.5(TUBGCP4):c.1732-11T>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097750	NM_014444.5(TUBGCP4):c.1732-18A>C	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_014444.5(TUBGCP4):c.1989-7T>C	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_014444.5(TUBGCP4):c.1849-11TC[2]	TUBGCP4, TP53BP1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1968980	NM_014444.5(TUBGCP4):c.1732-15_1732-14del	TP53BP1, TUBGCP4	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1961952	NM_014444.5(TUBGCP4):c.1988+16G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1955792	NM_014444.5(TUBGCP4):c.1849-11T>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1944439	NM_014444.5(TUBGCP4):c.1816C>T (p.Arg606Cys)	TUBGCP4, TP53BP1 (R607C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942656	NM_014444.5(TUBGCP4):c.1989-17C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1939987	NM_014444.5(TUBGCP4):c.1848+7C>G	TP53BP1, TUBGCP4	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_014444.5(TUBGCP4):c.1988+17G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1925083	NM_014444.5(TUBGCP4):c.1848+14del	TP53BP1, TUBGCP4	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1908738	NM_014444.5(TUBGCP4):c.1848+17G>C	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1899962	NM_014444.5(TUBGCP4):c.1732-17C>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1651871	NM_014444.5(TUBGCP4):c.1988+20A>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1640427	NM_014444.5(TUBGCP4):c.1848+12T>G	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1534669	NM_014444.5(TUBGCP4):c.1989-16T>C	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_014444.5(TUBGCP4):c.1849-17_1849-16dup	TP53BP1, TUBGCP4	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1530989	NM_014444.5(TUBGCP4):c.1989-13T>C	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_014444.5(TUBGCP4):c.1848+5G>A	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_014444.5(TUBGCP4):c.1988+5G>A	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_014444.5(TUBGCP4):c.1989-12_1989-5del	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_014444.5(TUBGCP4):c.1732-6G>A	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)	TUBGCP4, TP53BP1 (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_014444.5(TUBGCP4):c.1848+4_1848+5del	TUBGCP4, TP53BP1	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)	TUBGCP4, TP53BP1 (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_014444.5(TUBGCP4):c.1989-307C>T	TP53BP1, TUBGCP4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1255356	NM_014444.5(TUBGCP4):c.1848+172dup	TP53BP1, TUBGCP4	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1145870	NM_014444.5(TUBGCP4):c.1740C>T (p.His580=)	TUBGCP4, TP53BP1	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=)	TUBGCP4, TP53BP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086276	NM_014444.5(TUBGCP4):c.1989-8T>C	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)	TP53BP1, TUBGCP4 (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_014444.5(TUBGCP4):c.1732-5G>A	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)	not provided +2 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 190125	NG_042168.2:g.(35752_37583)_(39659_?)del	TUBGCP4	Deletion	Microcephaly and chorioretinopathy 3	GPathogenic
Select item 190123	NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	TP53BP1, TUBGCP4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 78