6926[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 591

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 881781	NM_005996.4(TBX3):c.*1556T>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307324	NM_005996.4(TBX3):c.*1539del	TBX3	Deletion (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307325	NM_005996.4(TBX3):c.*1510A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307326	NM_005996.4(TBX3):c.*1382G>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881782	NM_005996.4(TBX3):c.*1377C>T	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307327	NM_005996.4(TBX3):c.*1340G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 307328	NM_005996.4(TBX3):c.*1312T>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 307329	NM_005996.4(TBX3):c.*1285A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307330	NM_005996.4(TBX3):c.*1264C>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 307331	NM_005996.4(TBX3):c.*1224T>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 307332	NM_005996.4(TBX3):c.*1187G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307333	NM_005996.4(TBX3):c.*1181G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307334	NM_005996.4(TBX3):c.1083_1085del	TBX3	Deletion (3 prime UTR variant)	Ulnar-mammary syndrome	GLikely benign
Select item 882930	NM_005996.4(TBX3):c.*1074A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 882931	NM_005996.4(TBX3):c.*890A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 882932	NM_005996.4(TBX3):c.*795A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307335	NM_005996.4(TBX3):c.*747G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 307336	NM_005996.4(TBX3):c.*739A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 307337	NM_005996.4(TBX3):c.*715C>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307338	NM_005996.4(TBX3):c.*571C>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 307339	NM_005996.4(TBX3):c.*529G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 883727	NM_005996.4(TBX3):c.*502A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307340	NM_005996.4(TBX3):c.*471T>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307341	NM_005996.4(TBX3):c.*423G>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 881387	NM_005996.4(TBX3):c.*407T>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307342	NM_005996.4(TBX3):c.403_404del	TBX3	Deletion (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307343	NM_005996.4(TBX3):c.400_403del	TBX3	Deletion (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307344	NM_005996.4(TBX3):c.*397A>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 881388	NM_005996.4(TBX3):c.*377A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307345	NM_005996.4(TBX3):c.*366A>T	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 307346	NM_005996.4(TBX3):c.*245C>T	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign/Likely benign
Select item 881389	NM_005996.4(TBX3):c.*144G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307347	NM_005996.4(TBX3):c.*132G>A	TBX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 881831	NM_005996.4(TBX3):c.*84C>T	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881832	NM_005996.4(TBX3):c.*82C>T	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307348	NM_005996.4(TBX3):c.*57T>C	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GLikely benign
Select item 881833	NM_005996.4(TBX3):c.*46C>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307349	NM_005996.4(TBX3):c.*25T>A	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 307350	NM_005996.4(TBX3):c.*15C>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307351	NM_005996.4(TBX3):c.*14A>G	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307352	NM_005996.4(TBX3):c.*12A>T	TBX3	Single nucleotide variant (3 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign/Likely benign
Select item 3352768	NM_005996.4(TBX3):c.*4C>T	TBX3	Single nucleotide variant (3 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3037924	NM_005996.4(TBX3):c.*1A>C	TBX3	Single nucleotide variant (3 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3345595	NM_005996.4(TBX3):c.2162C>G (p.Ala721Gly)	TBX3 (A721G +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3348538	NM_005996.4(TBX3):c.2161G>A (p.Ala721Thr)	TBX3 (A721T +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 2058896	NM_005996.4(TBX3):c.2161G>C (p.Ala721Pro)	TBX3 (A721P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2718325	NM_005996.4(TBX3):c.2160C>T (p.Ser720=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2529886	NM_005996.4(TBX3):c.2155C>A (p.Arg719Ser)	TBX3 (R719S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1951120	NM_005996.4(TBX3):c.2146G>A (p.Asp716Asn)	TBX3 (D716N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 1601753	NM_005996.4(TBX3):c.2145G>T (p.Pro715=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GBenign
Select item 3350101	NM_005996.4(TBX3):c.2144C>G (p.Pro715Arg)	TBX3 (P715R +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 2808258	NM_005996.4(TBX3):c.2114A>G (p.Gln705Arg)	TBX3 (Q725R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome +2 more	GUncertain significance
Select item 3353480	NM_005996.4(TBX3):c.2109C>T (p.Ser703=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3344225	NM_005996.4(TBX3):c.2101C>G (p.Leu701Val)	TBX3 (L701V +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 2857233	NM_005996.4(TBX3):c.2096G>A (p.Ser699Asn)	TBX3 (S699N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 1719669	NM_005996.4(TBX3):c.2093C>A (p.Thr698Asn)	TBX3 (T698N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2887228	NM_005996.4(TBX3):c.2041_2091del (p.Ser681_Ala697del)	TBX3	Deletion (inframe_deletion)	Ulnar-mammary syndrome	GUncertain significance
Select item 2193329	NM_005996.4(TBX3):c.2088G>A (p.Ala696=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2894480	NM_005996.4(TBX3):c.2087C>T (p.Ala696Val)	TBX3 (A696V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307353	NM_005996.4(TBX3):c.2082A>G (p.Lys694=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome +1 more	GBenign/Likely benign
Select item 3351710	NM_005996.4(TBX3):c.2079G>C (p.Glu693Asp)	TBX3 (E693D +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 2721784	NM_005996.4(TBX3):c.2076G>A (p.Ala692=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2916530	NM_005996.4(TBX3):c.2069T>C (p.Leu690Pro)	TBX3 (L710P +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2827679	NM_005996.4(TBX3):c.2068C>G (p.Leu690Val)	TBX3 (L710V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 726426	NM_005996.4(TBX3):c.2061G>A (p.Ser687=)	TBX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956044	NM_005996.4(TBX3):c.2060C>T (p.Ser687Leu)	TBX3 (S707L +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2040524	NM_005996.4(TBX3):c.2046C>T (p.Ser682=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2723373	NM_005996.4(TBX3):c.2045G>A (p.Ser682Asn)	TBX3 (S682N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2420080	NM_005996.4(TBX3):c.2033_2044dup (p.Ser681_Ser682insThrLeuSerSer)	TBX3	Duplication (inframe_insertion)	Ulnar-mammary syndrome	GUncertain significance
Select item 3349393	NM_005996.4(TBX3):c.2040C>T (p.Ser680=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3030815	NM_005996.4(TBX3):c.2037C>G (p.Leu679=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3344773	NM_005996.4(TBX3):c.2024G>A (p.Arg675His)	TBX3 (R675H +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 2050419	NM_005996.4(TBX3):c.2018A>G (p.Asn673Ser)	TBX3 (N673S +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 3055823	NM_005996.4(TBX3):c.1991_2005del (p.Val664_Ser668del)	TBX3	Deletion	TBX3-related disorder	GUncertain significance
Select item 307354	NM_005996.4(TBX3):c.2004G>A (p.Ser668=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GConflicting classifications of pathogenicity
Select item 2123213	NM_005996.4(TBX3):c.2003C>T (p.Ser668Leu)	TBX3 (S668L +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2123214	NM_005996.4(TBX3):c.2001C>A (p.Asp667Glu)	TBX3 (D667E +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 1488251	NM_005996.4(TBX3):c.2000A>G (p.Asp667Gly)	TBX3 (D687G +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 1523373	NM_005996.4(TBX3):c.1996G>A (p.Val666Met)	TBX3 (V666M +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2050305	NM_005996.4(TBX3):c.1995A>G (p.Ala665=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2742380	NM_005996.4(TBX3):c.1976C>A (p.Ala659Asp)	TBX3 (A659D +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 288773	NM_005996.4(TBX3):c.1974C>T (p.Ala658=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307355	NM_005996.4(TBX3):c.1971G>A (p.Leu657=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GBenign/Likely benign
Select item 3351211	NM_005996.4(TBX3):c.1969C>A (p.Leu657Met)	TBX3 (L657M +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 2827680	NM_005996.4(TBX3):c.1969C>G (p.Leu657Val)	TBX3 (L657V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 1660607	NM_005996.4(TBX3):c.1965C>T (p.Ala655=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 3351839	NM_005996.4(TBX3):c.1959A>G (p.Lys653=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3055425	NM_005996.4(TBX3):c.1958A>C (p.Lys653Thr)	TBX3 (K653T +1 more)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 1525929	NM_005996.4(TBX3):c.1954G>A (p.Gly652Ser)	TBX3 (G672S +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 3352081	NM_005996.4(TBX3):c.1950G>C (p.Leu650=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 2911791	NM_005996.4(TBX3):c.1947C>A (p.Pro649=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2298671	NM_005996.4(TBX3):c.1945C>T (p.Pro649Ser)	TBX3 (P669S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2893439	NM_005996.4(TBX3):c.1944G>A (p.Gly648=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2870300	NM_005996.4(TBX3):c.1940C>A (p.Ala647Glu)	TBX3 (A667E +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2192551	NM_005996.4(TBX3):c.1937C>T (p.Ala646Val)	TBX3 (A646V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2815099	NM_005996.4(TBX3):c.1934C>T (p.Ala645Val)	TBX3 (A645V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2199468	NM_005996.4(TBX3):c.1931C>T (p.Ala644Val)	TBX3 (A644V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2983234	NM_005996.4(TBX3):c.1923C>T (p.Pro641=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign

<< First< Prev

Page of 6