7043[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 58332	GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3	BATF, ERG28 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1218765	NM_003239.5(TGFB3):c.*824T>C	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1203503	NM_003239.5(TGFB3):c.*820G>A	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1279293	NM_003239.5(TGFB3):c.*696T>C	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1202225	NM_003239.5(TGFB3):c.*682G>A	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1239029	NM_003239.5(TGFB3):c.*666A>G	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 180537	NM_003239.5(TGFB3):c.*513A>G	TGFB3	Single nucleotide variant (3 prime UTR variant)	Collapse (finding) +1 more	GUncertain significance
Select item 1707185	NM_003239.5(TGFB3):c.*505G>A	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 314442	NM_003239.5(TGFB3):c.*496G>A	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 665632	NC_000014.9:g.(?_75958692)_(75965705_?)del	LOC130056139, TGFB3	Deletion	Loeys-Dietz syndrome 4	GLikely pathogenic
Select item 663430	NC_000014.9:g.(?_75958692)_(75971728_?)del	LOC130056139, TGFB3	Deletion	Rienhoff syndrome	GLikely pathogenic
Select item 12475	NM_003239.5(TGFB3):c.*495C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	Rienhoff syndrome	GUncertain significance
Select item 1269859	NM_003239.5(TGFB3):c.*482del	TGFB3	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 314444	NM_003239.5(TGFB3):c.*255C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 314445	NM_003239.5(TGFB3):c.*185C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 1190058	NM_003239.5(TGFB3):c.*13G>A	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 386379	NM_003239.5(TGFB3):c.*9G>A	TGFB3	Single nucleotide variant (3 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 1206838	NM_003239.5(TGFB3):c.*8C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2765877	NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)	TGFB3	Single nucleotide variant (stop lost)	Rienhoff syndrome	GUncertain significance
Select item 2702561	NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)	TGFB3 (S412R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1079994	NM_003239.5(TGFB3):c.1236C>T (p.Ser412=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1755782	NM_003239.5(TGFB3):c.1231T>G (p.Cys411Gly)	TGFB3 (C411G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 314447	NM_003239.5(TGFB3):c.1230A>G (p.Lys410=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3223149	NM_003239.5(TGFB3):c.1227T>C (p.Cys409=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 91862	NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr)	TGFB3 (C409Y)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GPathogenic
Select item 1310821	NM_003239.5(TGFB3):c.1222T>C (p.Ser408Pro)	TGFB3 (S408P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577388	NM_003239.5(TGFB3):c.1221G>A (p.Lys407=)	TGFB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1753275	NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)	TGFB3 (K407N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 857481	NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter)	TGFB3 (K407*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 640810	NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)	TGFB3 (K407E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2040910	NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)	TGFB3 (V406del)	Microsatellite (inframe_deletion)	Rienhoff syndrome	GUncertain significance
Select item 996246	NM_003239.5(TGFB3):c.1214T>C (p.Val405Ala)	TGFB3 (V405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1749208	NM_003239.5(TGFB3):c.1208A>G (p.Asn403Ser)	TGFB3 (N403S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2566620	NM_003239.5(TGFB3):c.1203C>G (p.Leu401=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2736130	NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)	TGFB3 (L401P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GLikely pathogenic
Select item 1747453	NM_003239.5(TGFB3):c.1200G>A (p.Gln400=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 449918	NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)	TGFB3 (E399*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 1148582	NM_003239.5(TGFB3):c.1194G>A (p.Val398=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 3176651	NM_003239.5(TGFB3):c.1192G>A (p.Val398Met)	TGFB3 (V398M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2630779	NM_003239.5(TGFB3):c.1191A>T (p.Lys397Asn)	TGFB3 (K397N)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 931529	NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg)	TGFB3 (K397R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1744041	NM_003239.5(TGFB3):c.1188dup (p.Lys397fs)	TGFB3 (K397fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1743932	NM_003239.5(TGFB3):c.1188C>A (p.Pro396=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477633	NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser)	TGFB3 (P396S)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1743168	NM_003239.5(TGFB3):c.1185C>A (p.Thr395=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 520203	NM_003239.5(TGFB3):c.1185C>T (p.Thr395=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2429654	NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)	TGFB3 (T395N)	Single nucleotide variant (missense variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 1483314	NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala)	TGFB3 (T395A)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 579242	NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro)	TGFB3 (T395P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 1742585	NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +1 more	GLikely benign
Select item 477632	NM_003239.5(TGFB3):c.1179G>A (p.Gly393=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1800799	NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)	TGFB3 (G393R)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1057432	NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala)	TGFB3 (V392A)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 1019171	NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp)	TGFB3 (V392D)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2892826	NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 450035	NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)	TGFB3 (Y390F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +3 more	GUncertain significance
Select item 2633197	NM_003239.5(TGFB3):c.1162A>T (p.Ile388Phe)	TGFB3 (I388F)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 1735107	NM_003239.5(TGFB3):c.1155C>G (p.Pro385=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2878430	NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)	TGFB3 (P385L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 477631	NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)	TGFB3 (E384G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2452148	NM_003239.5(TGFB3):c.1150G>C (p.Glu384Gln)	TGFB3 (E384Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1407846	NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys)	TGFB3 (E384K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 477630	NM_003239.5(TGFB3):c.1149G>A (p.Leu383=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 807143	NM_003239.5(TGFB3):c.1146C>T (p.Asp382=)	TGFB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 431837	NM_003239.5(TGFB3):c.1143G>T (p.Gln381His)	TGFB3 (Q381H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 520210	NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)	TGFB3 (P380S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1630463	NM_003239.5(TGFB3):c.1137G>A (p.Val379=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1002073	NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)	TGFB3 (V379M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 696396	NM_003239.5(TGFB3):c.1134C>T (p.Cys378=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 410275	NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr)	TGFB3 (C377Y)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 3003175	NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 963023	NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu)	TGFB3 (P376L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2075959	NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 836665	NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)	TGFB3 (S375L)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 239516	NM_003239.5(TGFB3):c.1122C>G (p.Ala374=)	TGFB3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1796654	NM_003239.5(TGFB3):c.1117T>C (p.Ser373Pro)	TGFB3 (S373P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519394	NM_003239.5(TGFB3):c.1108C>G (p.Pro370Ala)	TGFB3 (P370A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 520206	NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)	TGFB3 (L368fs)	Deletion (frameshift variant)	Rienhoff syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2745762	NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 1788366	NM_003239.5(TGFB3):c.1089A>G (p.Gly363=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 763648	NM_003239.5(TGFB3):c.1083G>T (p.Val361=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2695571	NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)	TGFB3 (V361L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2106087	NM_003239.5(TGFB3):c.1081-1G>A	TGFB3	Single nucleotide variant (splice acceptor variant)	Rienhoff syndrome	GLikely pathogenic
Select item 1641642	NM_003239.5(TGFB3):c.1081-8C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 1610105	NM_003239.5(TGFB3):c.1081-8C>T	TGFB3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2121887	NM_003239.5(TGFB3):c.1081-10C>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2840354	NM_003239.5(TGFB3):c.1081-12G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 314448	NM_003239.5(TGFB3):c.1081-14A>G	TGFB3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 679636	NM_003239.5(TGFB3):c.1081-146G>A	TGFB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679628	NM_003239.5(TGFB3):c.1080+163T>C	TGFB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017014	NM_003239.5(TGFB3):c.1080+14T>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 681792	NM_003239.5(TGFB3):c.1080+13C>T	TGFB3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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