7042[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 60082	GRCh38/hg38 1q41(chr1:217452423-218818361)x1	GPATCH2, LINC00210 +22 more	Copy number loss	See cases	GPathogenic
Select item 154219	GRCh38/hg38 1q41(chr1:217558925-218732002)x3	GPATCH2, LINC00210 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57198	GRCh38/hg38 1q41(chr1:218321722-218961624)x1	LINC01710, LINC02869 +9 more	Copy number loss	See cases	GUncertain significance
Select item 1249061	NC_000001.11:g.218345083CTTC[1]	TGFB2, TGFB2-AS1	Microsatellite	not provided	GBenign
Select item 1241729	NC_000001.11:g.218345173A>C	TGFB2, TGFB2-AS1	Single nucleotide variant	not provided	GBenign
Select item 295455	NM_003238.6(TGFB2):c.-1302A>G	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 295456	NM_003238.6(TGFB2):c.-1278AAGAGA[3]	TGFB2, TGFB2-AS1	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 295457	NM_003238.6(TGFB2):c.-1271A>G	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875513	NM_003238.6(TGFB2):c.-1249G>A	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 875514	NM_003238.6(TGFB2):c.-1237G>C	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 675714	NM_003238.6(TGFB2):c.-1230G>A	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GBenign/Likely benign
Select item 295458	NM_003238.6(TGFB2):c.-1153G>T	TGFB2, TGFB2-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295459	NM_003238.6(TGFB2):c.-1016C>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 295460	NM_003238.6(TGFB2):c.-794T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295461	NM_003238.6(TGFB2):c.-784A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 875515	NM_003238.6(TGFB2):c.-758G>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295462	NM_003238.6(TGFB2):c.-746G>T	TGFB2	Single nucleotide variant (non-coding transcript variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295463	NM_003238.6(TGFB2):c.-714A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GBenign
Select item 295464	NM_003238.6(TGFB2):c.-699A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295465	NM_003238.6(TGFB2):c.-683C>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295466	NM_003238.6(TGFB2):c.-682C>G	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295467	NM_003238.6(TGFB2):c.-679G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295468	NM_003238.6(TGFB2):c.-677T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 295469	NM_003238.6(TGFB2):c.-663C>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295470	NM_003238.6(TGFB2):c.-652GCACAC[3]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GUncertain significance
Select item 295471	NM_003238.6(TGFB2):c.-645_-644insCCACGC	TGFB2	Insertion (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295475	NM_003238.6(TGFB2):c.-644AC[15]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295474	NM_003238.6(TGFB2):c.-644AC[14]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295473	NM_003238.6(TGFB2):c.-644AC[13]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GUncertain significance
Select item 295472	NM_003238.6(TGFB2):c.-646G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295476	NM_003238.6(TGFB2):c.-644AC[11]	TGFB2	Microsatellite (5 prime UTR variant +1 more)	Loeys-Dietz syndrome	GLikely benign
Select item 295477	NM_003238.6(TGFB2):c.-644A>G	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295478	NM_003238.6(TGFB2):c.-620G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873635	NM_003238.6(TGFB2):c.-616G>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295479	NM_003238.6(TGFB2):c.-569T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295480	NM_003238.6(TGFB2):c.-542C>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873636	NM_003238.6(TGFB2):c.-540A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 873637	NM_003238.6(TGFB2):c.-514T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295481	NM_003238.6(TGFB2):c.-338T>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295482	NM_003238.6(TGFB2):c.-288A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GLikely benign
Select item 295483	NM_003238.6(TGFB2):c.-113_-110dup	TGFB2	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 874631	NM_003238.6(TGFB2):c.-101A>G	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 874632	NM_003238.6(TGFB2):c.-96C>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 507761	NM_003238.6(TGFB2):c.-45dup	TGFB2	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 295484	NM_003238.6(TGFB2):c.-45del	TGFB2	Deletion (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 513421	NM_003238.6(TGFB2):c.-16T>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378723	NM_003238.6(TGFB2):c.-6T>A	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 213833	NM_003238.6(TGFB2):c.-5A>T	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 681541	NM_003238.6(TGFB2):c.-4A>C	TGFB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2920683	NM_003238.6(TGFB2):c.9del (p.Cys4fs)	TGFB2 (C4fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 1329097	NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr)	TGFB2 (C4Y)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GLikely benign
Select item 651860	NM_003238.6(TGFB2):c.13G>C (p.Val5Leu)	TGFB2 (V5L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 528885	NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro)	TGFB2 (L6P)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2092629	NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)	TGFB2 (S7G)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1010166	NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr)	TGFB2 (S7T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1797425	NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)	TGFB2	Deletion (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 759298	NM_003238.6(TGFB2):c.30G>C (p.Leu10=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2534674	NM_003238.6(TGFB2):c.31A>C (p.Ile11Leu)	TGFB2 (I11L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1737850	NM_003238.6(TGFB2):c.41_42insTATCT (p.Val15fs)	TGFB2 (V15fs)	Insertion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 295485	NM_003238.6(TGFB2):c.37C>A (p.His13Asn)	TGFB2 (H13N)	Single nucleotide variant (missense variant +1 more)	TGFB2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2975770	NM_003238.6(TGFB2):c.38A>G (p.His13Arg)	TGFB2 (H13R)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1557482	NM_003238.6(TGFB2):c.40C>T (p.Leu14=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GLikely benign
Select item 1415531	NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser)	TGFB2 (A18S)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 295486	NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr)	TGFB2 (A18T)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2586621	NM_003238.6(TGFB2):c.53C>T (p.Ala18Val)	TGFB2 (A18V)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1747962	NM_003238.6(TGFB2):c.54G>C (p.Ala18=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 295487	NM_003238.6(TGFB2):c.54G>T (p.Ala18=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1583936	NM_003238.6(TGFB2):c.57C>T (p.Leu19=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 2581605	NM_003238.6(TGFB2):c.59G>C (p.Ser20Thr)	TGFB2 (S20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 838563	NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)	TGFB2 (S20N)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1460771	NM_003238.6(TGFB2):c.64_66del (p.Ser22del)	TGFB2 (S22del)	Deletion (inframe_deletion +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1758709	NM_003238.6(TGFB2):c.73A>C (p.Ser25Arg)	TGFB2 (S25R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1761104	NM_003238.6(TGFB2):c.78A>G (p.Thr26=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2177553	NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)	TGFB2 (L27I)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2746332	NM_003238.6(TGFB2):c.81C>A (p.Leu27=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 1763654	NM_003238.6(TGFB2):c.84T>C (p.Asp28=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2752143	NM_003238.6(TGFB2):c.89del (p.Asp30fs)	TGFB2 (D30fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 1426380	NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu)	TGFB2 (F32L)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 626565	NM_003238.6(TGFB2):c.98T>G (p.Met33Arg)	TGFB2 (M33R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 656106	NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys)	TGFB2 (R34C)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 423492	NM_003238.6(TGFB2):c.101G>A (p.Arg34His)	TGFB2 (R34H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1782854	NM_003238.6(TGFB2):c.106A>C (p.Arg36=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3058800	NM_003238.6(TGFB2):c.108G>A (p.Arg36=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	TGFB2-related condition	GLikely benign
Select item 3018013	NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)	TGFB2 (I37M)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 2884421	NM_003238.6(TGFB2):c.111C>T (p.Ile37=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 1562756	NM_003238.6(TGFB2):c.111C>A (p.Ile37=)	TGFB2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 4	GLikely benign
Select item 1976865	NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)	TGFB2 (E38Q)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 1727962	NM_003238.6(TGFB2):c.112G>A (p.Glu38Lys)	TGFB2 (E38K)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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