7056[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 337849	NM_000361.3(THBD):c.*2143C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337850	NM_000361.3(THBD):c.*2129C>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337851	NM_000361.3(THBD):c.*1993T>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 337852	NM_000361.3(THBD):c.*1918G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 337853	NM_000361.3(THBD):c.*1869G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 898179	NM_000361.3(THBD):c.*1845G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337854	NM_000361.3(THBD):c.*1770T>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337855	NM_000361.3(THBD):c.*1689C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337856	NM_000361.3(THBD):c.*1562G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 899280	NM_000361.3(THBD):c.*1519G>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899281	NM_000361.3(THBD):c.*1505C>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337857	NM_000361.3(THBD):c.*1469C>T	THBD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337858	NM_000361.3(THBD):c.*1315C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 899282	NM_000361.3(THBD):c.*1271G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337859	NM_000361.3(THBD):c.*1239G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337860	NM_000361.3(THBD):c.*1171C>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337861	NM_000361.3(THBD):c.*1153A>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 895191	NM_000361.3(THBD):c.*1104A>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 895192	NM_000361.3(THBD):c.*1011C>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337862	NM_000361.3(THBD):c.*1001A>C	THBD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 337863	NM_000361.3(THBD):c.*943dup	THBD	Duplication (3 prime UTR variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 337864	NM_000361.3(THBD):c.*793A>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 895193	NM_000361.3(THBD):c.*775G>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337865	NM_000361.3(THBD):c.*759A>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337866	NM_000361.3(THBD):c.*663C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337867	NM_000361.3(THBD):c.*562G>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337868	NM_000361.3(THBD):c.*520C>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 896605	NM_000361.3(THBD):c.*511T>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 896606	NM_000361.3(THBD):c.*509C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337869	NM_000361.3(THBD):c.*508dup	THBD	Duplication (3 prime UTR variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 337870	NM_000361.3(THBD):c.*497G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337871	NM_000361.3(THBD):c.*351A>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 337872	NM_000361.3(THBD):c.*338C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337873	NM_000361.3(THBD):c.*325T>C	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GLikely benign
Select item 337874	NM_000361.3(THBD):c.*321G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 337875	NM_000361.3(THBD):c.*277G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 898232	NM_000361.3(THBD):c.*230T>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 898233	NM_000361.3(THBD):c.*169G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337876	NM_000361.3(THBD):c.*158G>A	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GLikely benign
Select item 337877	NM_000361.3(THBD):c.*87T>G	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly +1 more	GBenign
Select item 337878	NM_000361.3(THBD):c.*47C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 337879	NM_000361.3(THBD):c.*41T>C	THBD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899342	NM_000361.3(THBD):c.*27C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 337880	NM_000361.3(THBD):c.*26C>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GBenign
Select item 899343	NM_000361.3(THBD):c.*1G>T	THBD	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 438664	NM_000361.3(THBD):c.1712C>T (p.Thr571Met)	THBD (T571M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 2882517	NM_000361.3(THBD):c.1710G>A (p.Arg570=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310038	NM_000361.3(THBD):c.1705G>C (p.Glu569Gln)	THBD (E569Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166044	NM_000361.3(THBD):c.1704C>T (p.Thr568=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 899344	NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)	THBD (R567Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1370926	NM_000361.3(THBD):c.1697T>G (p.Val566Gly)	THBD (V566G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844169	NM_000361.3(THBD):c.1696G>T (p.Val566Leu)	THBD (V566L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842952	NM_000361.3(THBD):c.1696del (p.Val566fs)	THBD (V566fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2857711	NM_000361.3(THBD):c.1694A>G (p.His565Arg)	THBD (H565R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12716	NM_000361.3(THBD):c.1688dup (p.Gln564fs)	THBD (Q564fs)	Duplication (frameshift variant)	Thrombomodulin-related bleeding disorder	GPathogenic
Select item 3325852	NM_000361.3(THBD):c.1685T>C (p.Val562Ala)	THBD (V562A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683531	NM_000361.3(THBD):c.1678G>A (p.Glu560Lys)	THBD (E560K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163744	NM_000361.3(THBD):c.1678G>C (p.Glu560Gln)	THBD (E560Q)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 899345	NM_000361.3(THBD):c.1674C>G (p.Ser558=)	THBD	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 2102328	NM_000361.3(THBD):c.1669C>T (p.Pro557Ser)	THBD (P557S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919205	NM_000361.3(THBD):c.1665G>A (p.Ala555=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653589	NM_000361.3(THBD):c.1659G>A (p.Lys553=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384716	NM_000361.3(THBD):c.1655A>G (p.Tyr552Cys)	THBD (Y552C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787310	NM_000361.3(THBD):c.1643C>A (p.Ala548Asp)	THBD (A548D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978463	NM_000361.3(THBD):c.1637C>T (p.Ala546Val)	THBD (A546V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897651	NM_000361.3(THBD):c.1633G>A (p.Ala545Thr)	THBD (A545T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971783	NM_000361.3(THBD):c.1620C>G (p.Arg540=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646314	NM_000361.3(THBD):c.1617G>C (p.Leu539=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575646	NM_000361.3(THBD):c.1617G>A (p.Leu539=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466387	NM_000361.3(THBD):c.1614C>A (p.His538Gln)	THBD (H538Q)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 627252	NM_000361.3(THBD):c.1611C>A (p.Cys537Ter)	THBD (C537*)	Single nucleotide variant (nonsense)	Abnormal bleeding	GLikely pathogenic
Select item 1163745	NM_000361.3(THBD):c.1606C>T (p.Leu536Phe)	THBD (L536F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018165	NM_000361.3(THBD):c.1605C>T (p.Leu535=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2683532	NM_000361.3(THBD):c.1601C>T (p.Ala534Val)	THBD (A534V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720769	NM_000361.3(THBD):c.1601C>A (p.Ala534Glu)	THBD (A534E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3176942	NM_000361.3(THBD):c.1594C>T (p.Leu532Phe)	THBD (L532F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423381	NM_000361.3(THBD):c.1592C>T (p.Ala531Val)	THBD (A531V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2830512	NM_000361.3(THBD):c.1588G>A (p.Val530Met)	THBD (V530M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578707	NM_000361.3(THBD):c.1587G>C (p.Val529=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125473	NM_000361.3(THBD):c.1584G>A (p.Leu528=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095353	NM_000361.3(THBD):c.1582C>T (p.Leu528=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 899346	NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)	THBD (L526P)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	GUncertain significance
Select item 1514607	NM_000361.3(THBD):c.1557A>G (p.Ile519Met)	THBD (I519M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397754	NM_000361.3(THBD):c.1556T>C (p.Ile519Thr)	THBD (I519T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1650615	NM_000361.3(THBD):c.1548C>T (p.Gly516=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464704	NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)	THBD (G516R)	Single nucleotide variant (missense variant)	Thrombomodulin-related bleeding disorder +2 more	GUncertain significance
Select item 2781503	NM_000361.3(THBD):c.1545G>T (p.Ser515=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983065	NM_000361.3(THBD):c.1537G>C (p.Val513Leu)	THBD (V513L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375088	NM_000361.3(THBD):c.1536C>G (p.Leu512=)	THBD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 337881	NM_000361.3(THBD):c.1528G>A (p.Val510Met)	THBD (V510M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012477	NM_000361.3(THBD):c.1527C>A (p.Ala509=)	THBD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2500612	NM_000361.3(THBD):c.1523C>A (p.Pro508Gln)	THBD (P508Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684336	NM_000361.3(THBD):c.1523C>T (p.Pro508Leu)	THBD (P508L)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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