ClinVar for Gene (Select 6913) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063421	GRCh37/hg19 1p12(chr1:119425396-120523902)x3	ADAM30, HAO2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3054469	NM_001330677.2(TBX15):c.152G>T (p.Gly51Val)	TBX15 (G51V)	Single nucleotide variant (missense variant +1 more)	TBX15-related condition	GLikely benign
Select item 3053929	NM_001330677.2(TBX15):c.1473A>G (p.Ser491=)	TBX15	Single nucleotide variant (synonymous variant)	TBX15-related condition	GLikely benign
Select item 3049002	NM_001330677.2(TBX15):c.97C>A (p.Arg33=)	TBX15	Single nucleotide variant (synonymous variant +1 more)	TBX15-related condition	GLikely benign
Select item 3043639	NM_001330677.2(TBX15):c.168G>C (p.Thr56=)	TBX15	Single nucleotide variant (synonymous variant +1 more)	TBX15-related condition	GLikely benign
Select item 3040576	NM_001330677.2(TBX15):c.167C>G (p.Thr56Arg)	TBX15 (T56R)	Single nucleotide variant (missense variant +1 more)	TBX15-related condition	GLikely benign
Select item 2984471	NM_001330677.2(TBX15):c.994G>A (p.Glu332Lys)	TBX15 (E226K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976907	NM_001330677.2(TBX15):c.1024+12G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970939	NM_001330677.2(TBX15):c.1743T>C (p.Thr581=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970180	NM_001330677.2(TBX15):c.573T>G (p.Pro191=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902463	NM_001330677.2(TBX15):c.1605G>A (p.Leu535=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901696	NM_001330677.2(TBX15):c.843G>A (p.Thr281=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898214	NM_001330677.2(TBX15):c.1488C>T (p.Phe496=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862322	NM_001330677.2(TBX15):c.984A>T (p.Thr328=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794039	NM_001330677.2(TBX15):c.423G>A (p.Arg141=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775657	NM_001330677.2(TBX15):c.1134C>T (p.Ala378=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770665	NM_001330677.2(TBX15):c.1801A>C (p.Met601Leu)	TBX15 (M601L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770365	NM_001330677.2(TBX15):c.354A>G (p.Gln118=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716798	NM_001330677.2(TBX15):c.1025-10del	TBX15	Deletion (intron variant)	not provided	GBenign
Select item 2685822	GRCh37/hg19 1p12(chr1:119426691-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2615152	NM_001330677.2(TBX15):c.506A>G (p.Asp169Gly)	TBX15 (D169G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605404	NM_001330677.2(TBX15):c.344T>C (p.Val115Ala)	TBX15 (V115A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598712	NM_001330677.2(TBX15):c.1127A>C (p.His376Pro)	TBX15 (H376P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598488	NM_001330677.2(TBX15):c.778C>G (p.Pro260Ala)	TBX15 (P154A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559279	NM_001330677.2(TBX15):c.1340T>A (p.Ile447Asn)	TBX15 (I447N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540733	NM_001330677.2(TBX15):c.749A>T (p.Asp250Val)	TBX15 (D144V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426216	NC_000001.10:g.(?_119427355)_(119619250_?)dup	TBX15, WARS2	Duplication	not provided	GUncertain significance
Select item 2425620	NC_000001.10:g.(?_119466351)_(120286570_?)del	HAO2, HSD3B1 +5 more	Deletion	PHGDH deficiency	GPathogenic
Select item 2417587	NM_001330677.2(TBX15):c.1024+3A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2390994	NM_001330677.2(TBX15):c.778C>T (p.Pro260Ser)	TBX15 (P260S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312447	NM_001330677.2(TBX15):c.1553A>G (p.Tyr518Cys)	TBX15 (Y412C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298734	NM_001330677.2(TBX15):c.751T>G (p.Phe251Val)	TBX15 (F145V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295645	NM_001330677.2(TBX15):c.1571C>T (p.Thr524Ile)	TBX15 (T418I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287138	NM_001330677.2(TBX15):c.681T>A (p.Asp227Glu)	TBX15 (D227E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264121	NM_001330677.2(TBX15):c.338T>C (p.Ile113Thr)	TBX15 (I7T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241232	NM_001330677.2(TBX15):c.1220T>C (p.Met407Thr)	TBX15 (M301T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240296	NM_001330677.2(TBX15):c.1393T>C (p.Tyr465His)	TBX15 (Y359H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190259	NM_001330677.2(TBX15):c.1793C>T (p.Ser598Phe)	TBX15 (S492F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2189081	NM_001330677.2(TBX15):c.1305T>C (p.Ser435=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187407	NM_001330677.2(TBX15):c.1620C>T (p.Ser540=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181628	NM_001330677.2(TBX15):c.1395C>T (p.Tyr465=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171772	NM_001330677.2(TBX15):c.1683G>A (p.Gly561=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154780	NM_001330677.2(TBX15):c.1677G>A (p.Pro559=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133654	NM_001330677.2(TBX15):c.824C>T (p.Thr275Ile)	TBX15 (T169I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121961	NM_001330677.2(TBX15):c.420-9T>A	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109642	NM_001330677.2(TBX15):c.1341C>A (p.Ile447=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106426	NM_001330677.2(TBX15):c.1670A>T (p.Tyr557Phe)	TBX15 (Y451F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104286	NM_001330677.2(TBX15):c.1619G>T (p.Ser540Ile)	TBX15 (S434I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103064	NM_001330677.2(TBX15):c.1623T>G (p.Thr541=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087785	NM_001330677.2(TBX15):c.534T>C (p.His178=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087727	NM_001330677.2(TBX15):c.623C>A (p.Thr208Asn)	TBX15 (T208N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082138	NM_001330677.2(TBX15):c.383A>T (p.Asp128Val)	TBX15 (D22V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077843	NM_001330677.2(TBX15):c.861+6A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2077815	NM_001330677.2(TBX15):c.605C>A (p.Ser202Tyr)	TBX15 (S202Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074550	NM_001330677.2(TBX15):c.1538A>G (p.Asn513Ser)	TBX15 (N407S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068808	NM_001330677.2(TBX15):c.1588G>A (p.Ala530Thr)	TBX15 (A424T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056128	NM_001330677.2(TBX15):c.1609G>A (p.Ala537Thr)	TBX15 (A431T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2052543	NM_001330677.2(TBX15):c.743G>C (p.Arg248Pro)	TBX15 (R248P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045397	NM_001330677.2(TBX15):c.984A>G (p.Thr328=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043763	NM_001330677.2(TBX15):c.748G>A (p.Asp250Asn)	TBX15 (D250N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035996	NM_001330677.2(TBX15):c.738G>A (p.Val246=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033658	NM_001330677.2(TBX15):c.419+19G>T	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001423	NM_001330677.2(TBX15):c.1670A>G (p.Tyr557Cys)	TBX15 (Y557C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997415	NM_001330677.2(TBX15):c.1435T>C (p.Tyr479His)	TBX15 (Y479H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996589	NM_001330677.2(TBX15):c.694-8dup	TBX15	Duplication (intron variant)	not provided	GBenign
Select item 1993123	NM_001330677.2(TBX15):c.1535A>G (p.His512Arg)	TBX15 (H406R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991920	NM_001330677.2(TBX15):c.702G>A (p.Leu234=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971059	NM_001330677.2(TBX15):c.514A>C (p.Arg172=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970262	NM_001330677.2(TBX15):c.1025-10T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969404	NM_001330677.2(TBX15):c.844G>T (p.Ala282Ser)	TBX15 (A176S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968378	NM_001330677.2(TBX15):c.627G>T (p.Trp209Cys)	TBX15 (W103C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966816	NM_001330677.2(TBX15):c.1210C>T (p.Arg404Ter)	TBX15 (R298* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1964198	NM_001330677.2(TBX15):c.1351C>A (p.Pro451Thr)	TBX15 (P345T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963367	NM_001330677.2(TBX15):c.651C>T (p.Asp217=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950627	NM_001330677.2(TBX15):c.1173G>C (p.Leu391=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949819	NM_001330677.2(TBX15):c.1390G>A (p.Ala464Thr)	TBX15 (A358T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932803	NM_001330677.2(TBX15):c.1652C>T (p.Ala551Val)	TBX15 (A551V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926743	NM_001330677.2(TBX15):c.494T>C (p.Ile165Thr)	TBX15 (I165T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926627	NM_001330677.2(TBX15):c.694-19A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926626	NM_001330677.2(TBX15):c.1344A>G (p.Ser448=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912994	NM_001330677.2(TBX15):c.419+17T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911323	NM_001330677.2(TBX15):c.927-16G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910362	NM_001330677.2(TBX15):c.1408G>A (p.Gly470Arg)	TBX15 (G470R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909997	NM_001330677.2(TBX15):c.1211G>A (p.Arg404Gln)	TBX15 (R298Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908018	NM_001330677.2(TBX15):c.1141A>C (p.Thr381Pro)	TBX15 (T275P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905772	NM_001330677.2(TBX15):c.1742C>T (p.Thr581Ile)	TBX15 (T475I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905650	NM_001330677.2(TBX15):c.493A>G (p.Ile165Val)	TBX15 (I165V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1905075	NM_001330677.2(TBX15):c.505G>C (p.Asp169His)	TBX15 (D169H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900460	NM_001330677.2(TBX15):c.420-16T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659581	NM_001330677.2(TBX15):c.1758G>A (p.Gln586=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626512	NM_001330677.2(TBX15):c.888C>T (p.Asn296=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608985	NM_001330677.2(TBX15):c.1332A>G (p.Pro444=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606019	NM_001330677.2(TBX15):c.1647C>T (p.Asn549=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600982	NM_001330677.2(TBX15):c.861+14C>G	TBX15	Single nucleotide variant (intron variant)	Pelviscapular dysplasia +1 more	GBenign/Likely benign
Select item 1549290	NM_001330677.2(TBX15):c.676T>C (p.Leu226=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540323	NM_001330677.2(TBX15):c.694-8T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539667	NM_001330677.2(TBX15):c.456C>G (p.Gly152=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1521209	NM_001330677.2(TBX15):c.502G>A (p.Val168Met)	TBX15 (V168M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509713	NM_001330677.2(TBX15):c.1191dup (p.Asp398Ter)	TBX15 (D292* +1 more)	Duplication (nonsense)	not provided	GUncertain significance

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