C0265264[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213835	NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	TGFB2 (R91H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 155837	NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	TGFB2 (V207L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 881175	NM_181486.4(TBX5):c.*1548C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307266	NM_181486.4(TBX5):c.*1511G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307267	NM_181486.4(TBX5):c.1477_1480del	TBX5	Deletion (3 prime UTR variant)	Holt-Oram syndrome	GLikely benign
Select item 307268	NM_181486.4(TBX5):c.*1446T>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307269	NM_181486.4(TBX5):c.*1385del	TBX5	Deletion (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307270	NM_181486.4(TBX5):c.*1373G>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 881640	NM_181486.4(TBX5):c.*1344G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307271	NM_181486.4(TBX5):c.*1331T>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307272	NM_181486.4(TBX5):c.*1196T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307273	NM_181486.4(TBX5):c.*1188T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307274	NM_181486.4(TBX5):c.*1111T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307275	NM_181486.4(TBX5):c.*1101A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 882802	NM_181486.4(TBX5):c.*1071C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307276	NM_181486.4(TBX5):c.*960A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307277	NM_181486.4(TBX5):c.*926T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307278	NM_181486.4(TBX5):c.*909A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307279	NM_181486.4(TBX5):c.*875A>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307280	NM_181486.4(TBX5):c.*856T>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307281	NM_181486.4(TBX5):c.*852C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883588	NM_181486.4(TBX5):c.*836A>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GLikely benign
Select item 307282	NM_181486.4(TBX5):c.*812C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307283	NM_181486.4(TBX5):c.*806C>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307284	NM_181486.4(TBX5):c.*795G>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307285	NM_181486.4(TBX5):c.755_759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG	TBX5	Indel (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307286	NM_181486.4(TBX5):c.*739T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307287	NM_181486.4(TBX5):c.*718G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883589	NM_181486.4(TBX5):c.*717C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307288	NM_181486.4(TBX5):c.*702T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307289	NM_181486.4(TBX5):c.*673C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307290	NM_181486.4(TBX5):c.*601G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307291	NM_181486.4(TBX5):c.*563G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307292	NM_181486.4(TBX5):c.*545C>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307293	NM_181486.4(TBX5):c.*524A>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307294	NM_181486.4(TBX5):c.*480G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 881225	NM_181486.4(TBX5):c.*439T>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307295	NM_181486.4(TBX5):c.*384T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307296	NM_181486.4(TBX5):c.*306C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307297	NM_181486.4(TBX5):c.*277C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307298	NM_181486.4(TBX5):c.*147T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307299	NM_181486.4(TBX5):c.*129A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 881692	NM_181486.4(TBX5):c.*121A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307300	NM_181486.4(TBX5):c.*97G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome +1 more	GBenign
Select item 307301	NM_181486.4(TBX5):c.*77A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 255489	NM_181486.4(TBX5):c.*40A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 307302	NM_181486.4(TBX5):c.*4G>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 882840	NM_181486.4(TBX5):c.1449G>A (p.Gln483=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 882841	NM_181486.4(TBX5):c.1362G>A (p.Met454Ile)	TBX5 (M404I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 307303	NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)	TBX5 (R438Q +1 more)	Single nucleotide variant (missense variant)	TBX5-related condition +3 more	GBenign/Likely benign
Select item 255491	NM_181486.4(TBX5):c.1281C>T (p.Ser427=)	TBX5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 882842	NM_181486.4(TBX5):c.1233C>G (p.Thr411=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 255490	NM_181486.4(TBX5):c.1152G>A (p.Ala384=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 883628	NM_181486.4(TBX5):c.1135A>T (p.Met379Leu)	TBX5 (M329L +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 307304	NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp)	TBX5 (R375W +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome +2 more	GBenign/Likely benign
Select item 883629	NM_181486.4(TBX5):c.1116G>A (p.Ser372=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 477655	NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)	TBX5 (S372L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 883630	NM_181486.4(TBX5):c.922C>T (p.Pro308Ser)	TBX5 (P308S +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely benign
Select item 307305	NM_181486.4(TBX5):c.846C>T (p.Ser282=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome	GUncertain significance
Select item 519262	NM_181486.4(TBX5):c.804C>G (p.Ala268=)	TBX5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 307306	NM_181486.4(TBX5):c.791G>A (p.Arg264Lys)	TBX5 (R264K +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome +2 more	GBenign/Likely benign
Select item 198693	NM_181486.4(TBX5):c.787G>A (p.Val263Met)	TBX5 (V263M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 289698	NM_181486.4(TBX5):c.786C>T (p.Thr262=)	TBX5	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 881273	NM_181486.4(TBX5):c.769G>A (p.Val257Met)	TBX5 (V257M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 956448	NM_181486.4(TBX5):c.756-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	Aortic valve disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 519311	NM_181486.4(TBX5):c.729G>T (p.Glu243Asp)	TBX5 (E243D +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GBenign/Likely benign
Select item 881274	NM_181486.4(TBX5):c.664-11C>T	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GUncertain significance
Select item 881275	NM_181486.4(TBX5):c.585C>T (p.Gly195=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome	GUncertain significance
Select item 881276	NM_181486.4(TBX5):c.456C>T (p.Leu152=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 881277	NM_181486.4(TBX5):c.372G>C (p.Thr124=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome	GUncertain significance
Select item 701877	NM_181486.4(TBX5):c.363-6A>G	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2 +1 more	GBenign/Likely benign
Select item 307307	NM_181486.4(TBX5):c.354T>C (p.Asp118=)	TBX5	Single nucleotide variant (synonymous variant)	TBX5-related condition +4 more	GBenign/Likely benign
Select item 213813	NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	TBX5 (D111Y +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +5 more	GBenign/Likely benign
Select item 307308	NM_181486.4(TBX5):c.318T>C (p.Ile106=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome +2 more	GBenign/Likely benign
Select item 213825	NM_181486.4(TBX5):c.316A>G (p.Ile106Val)	TBX5 (I106V +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +4 more	GBenign/Likely benign
Select item 213815	NM_181486.4(TBX5):c.309C>T (p.Leu103=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +3 more	GBenign
Select item 307309	NM_181486.4(TBX5):c.174C>T (p.Leu58=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome	GUncertain significance
Select item 195034	NM_181486.4(TBX5):c.114C>T (p.Ser38=)	TBX5	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 307310	NM_181486.4(TBX5):c.68C>A (p.Pro23His)	TBX5 (P23H)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome +2 more	GConflicting classifications of pathogenicity
Select item 307311	NM_181486.4(TBX5):c.57A>G (p.Ala19=)	TBX5	Single nucleotide variant (synonymous variant +1 more)	Holt-Oram syndrome +2 more	GBenign/Likely benign
Select item 264111	NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)	TBX5 (A19S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 569500	NM_181486.4(TBX5):c.54C>A (p.Asp18Glu)	TBX5 (D18E)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 882883	NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)	TBX5 (E6K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 307312	NM_181486.4(TBX5):c.13G>A (p.Asp5Asn)	TBX5 (D5N)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 307313	NM_000192.3(TBX5):c.-39+12C>A	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome +1 more	GBenign
Select item 882884	NM_000192.3(TBX5):c.-42G>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883676	NM_000192.3(TBX5):c.-107T>C	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883677	NM_000192.3(TBX5):c.-132G>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883678	NM_000192.3(TBX5):c.-153T>G	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883679	NM_000192.3(TBX5):c.-167G>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307314	NM_000192.3(TBX5):c.-255G>T	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307315	NM_000192.3(TBX5):c.-305C>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307316	NM_000192.3(TBX5):c.-347C>G	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883680	NM_000192.3(TBX5):c.-377C>T	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 881337	NM_000192.3(TBX5):c.-403G>C	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307317	NM_000192.3(TBX5):c.-449G>C	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GBenign
Select item 307318	NM_000192.3(TBX5):c.-481T>C	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 881338	NM_000192.3(TBX5):c.-487G>A	TBX5-AS1, TBX5	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 881339	NM_000192.3(TBX5):c.-503C>T	TBX5-AS1, TBX5	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 307319	NM_000192.3(TBX5):c.-545C>T	TBX5, TBX5-AS1	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign

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