TBX15[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 206

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 1297885	NM_001330677.2(TBX15):c.*126dup	TBX15	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1253783	NM_001330677.2(TBX15):c.125_126dup	TBX15	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1251229	NM_001330677.2(TBX15):c.124_126del	TBX15	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1243200	NM_001330677.2(TBX15):c.*126del	TBX15	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1214267	NM_001330677.2(TBX15):c.123_126del	TBX15	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1208793	NM_001330677.2(TBX15):c.*96C>T	TBX15	Single nucleotide variant (3 prime UTR 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 3174931	NM_001330677.2(TBX15):c.1795G>A (p.Val599Met)	TBX15 (V599M +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 1404637	NM_001330677.2(TBX15):c.1778C>T (p.Ser593Phe)	TBX15 (S593F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659581	NM_001330677.2(TBX15):c.1758G>A (p.Gln586=)	TBX15	Single nucleotide variant (synonymous 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 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 289696	NM_001330677.2(TBX15):c.1728A>G (p.Gln576=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1408532	NM_001330677.2(TBX15):c.1721A>G (p.Asn574Ser)	TBX15 (N574S +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +2 more	GUncertain significance
Select item 1221451	NM_001330677.2(TBX15):c.1710C>T (p.Ser570=)	TBX15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 594474	NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg)	TBX15 (M460R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 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 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 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 1606019	NM_001330677.2(TBX15):c.1647C>T (p.Asn549=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103064	NM_001330677.2(TBX15):c.1623T>G (p.Thr541=)	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 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 2056128	NM_001330677.2(TBX15):c.1609G>A (p.Ala537Thr)	TBX15 (A431T +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +2 more	GUncertain significance
Select item 2902463	NM_001330677.2(TBX15):c.1605G>A (p.Leu535=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1368140	NM_001330677.2(TBX15):c.1580G>C (p.Arg527Thr)	TBX15 (R421T +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 1395107	NM_001330677.2(TBX15):c.1544A>T (p.Tyr515Phe)	TBX15 (Y515F +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 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 597720	NM_001330677.2(TBX15):c.1503G>T (p.Met501Ile)	TBX15 (M395I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898214	NM_001330677.2(TBX15):c.1488C>T (p.Phe496=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596970	NM_001330677.2(TBX15):c.1483A>G (p.Met495Val)	TBX15 (M389V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353267	NM_001330677.2(TBX15):c.1480C>A (p.His494Asn)	TBX15 (H494N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767693	NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala)	TBX15 (P387A +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 1505741	NM_001330677.2(TBX15):c.1474T>A (p.Ser492Thr)	TBX15 (S492T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053929	NM_001330677.2(TBX15):c.1473A>G (p.Ser491=)	TBX15	Single nucleotide variant (synonymous variant)	TBX15-related disorder	GLikely benign
Select item 1482758	NM_001330677.2(TBX15):c.1429_1450del (p.Phe477fs)	TBX15 (F371fs +1 more)	Deletion (frameshift 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 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 1376334	NM_001330677.2(TBX15):c.1404G>C (p.Gln468His)	TBX15 (Q362H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2181628	NM_001330677.2(TBX15):c.1395C>T (p.Tyr465=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 764851	NM_001330677.2(TBX15):c.1365G>A (p.Ser455=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 5823	NM_001330677.2(TBX15):c.1350del (p.Pro451fs)	TBX15 (P345fs +1 more)	Deletion (frameshift variant)	Pelviscapular dysplasia	GPathogenic
Select item 5822	NM_001330677.2(TBX15):c.1348del (p.Ile450fs)	TBX15 (I344fs +1 more)	Deletion (frameshift variant)	Pelviscapular dysplasia	GPathogenic
Select item 1926626	NM_001330677.2(TBX15):c.1344A>G (p.Ser448=)	TBX15	Single nucleotide variant (synonymous 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 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 1387204	NM_001330677.2(TBX15):c.1334C>G (p.Ser445Cys)	TBX15 (S445C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608985	NM_001330677.2(TBX15):c.1332A>G (p.Pro444=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289694	NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)	TBX15 (R336K +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 2189081	NM_001330677.2(TBX15):c.1305T>C (p.Ser435=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358031	NM_001330677.2(TBX15):c.1291G>T (p.Ala431Ser)	TBX15 (A325S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756102	NM_001330677.2(TBX15):c.1278T>C (p.Ser426=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494205	NM_001330677.2(TBX15):c.1231C>T (p.Gln411Ter)	TBX15 (Q411* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 710874	NM_001330677.2(TBX15):c.1227C>T (p.Ala409=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1966816	NM_001330677.2(TBX15):c.1210C>T (p.Arg404Ter)	TBX15 (R298* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1408298	NM_001330677.2(TBX15):c.1208C>T (p.Ala403Val)	TBX15 (A297V +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +2 more	GUncertain significance
Select item 1509713	NM_001330677.2(TBX15):c.1191dup (p.Asp398Ter)	TBX15 (D292* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1950627	NM_001330677.2(TBX15):c.1173G>C (p.Leu391=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434092	NM_001330677.2(TBX15):c.1150G>A (p.Val384Met)	TBX15 (V384M +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +1 more	GUncertain significance
Select item 760203	NM_001330677.2(TBX15):c.1149T>C (p.Asn383=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2775657	NM_001330677.2(TBX15):c.1134C>T (p.Ala378=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1468030	NM_001330677.2(TBX15):c.1087T>G (p.Ser363Ala)	TBX15 (S363A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717280	NM_001330677.2(TBX15):c.1068A>G (p.Thr356=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780774	NM_001330677.2(TBX15):c.1025-4T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2716798	NM_001330677.2(TBX15):c.1025-10del	TBX15	Deletion (intron variant)	not provided	GBenign
Select item 1970262	NM_001330677.2(TBX15):c.1025-10T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258615	NM_001330677.2(TBX15):c.1025-37G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256913	NM_001330677.2(TBX15):c.1025-176A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287728	NM_001330677.2(TBX15):c.1025-190G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286916	NM_001330677.2(TBX15):c.1025-217TG[11]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1279793	NM_001330677.2(TBX15):c.1025-217TG[12]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1202970	NM_001330677.2(TBX15):c.1025-199T>A	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179436	NM_001330677.2(TBX15):c.1025-208G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201251	NM_001330677.2(TBX15):c.1025-225T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195050	NM_001330677.2(TBX15):c.1024+230A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297900	NM_001330677.2(TBX15):c.1024+226C>T	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198410	NM_001330677.2(TBX15):c.1024+199T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976907	NM_001330677.2(TBX15):c.1024+12G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417587	NM_001330677.2(TBX15):c.1024+3A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 806196	NM_001330677.2(TBX15):c.990del (p.Phe331fs)	TBX15 (F225fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2862322	NM_001330677.2(TBX15):c.984A>T (p.Thr328=)	TBX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3