1290[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 146486	GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1	ANKAR, ASDURF +19 more	Copy number loss	See cases	GPathogenic
Select item 529340	NC_000002.12:g.(?_188974470)_(189580480_?)del	MIR1245A, LOC129935240 +11 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 333093	NM_000393.5(COL5A2):c.*2131T>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 333094	NM_000393.5(COL5A2):c.*2062G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333095	NM_000393.5(COL5A2):c.*1970T>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333096	NM_000393.5(COL5A2):c.*1961T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333097	NM_000393.5(COL5A2):c.*1960A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 333098	NM_000393.5(COL5A2):c.*1904C>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 333099	NM_000393.5(COL5A2):c.*1894C>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333100	NM_000393.5(COL5A2):c.*1852T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333101	NM_000393.5(COL5A2):c.*1764G>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GConflicting classifications of pathogenicity
Select item 333102	NM_000393.5(COL5A2):c.*1669G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 333103	NM_000393.5(COL5A2):c.*1668C>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333104	NM_000393.5(COL5A2):c.*1465G>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333105	NM_000393.5(COL5A2):c.*1460A>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333106	NM_000393.5(COL5A2):c.*1402T>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333107	NM_000393.5(COL5A2):c.*1400A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333108	NM_000393.5(COL5A2):c.*1379A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 898140	NM_000393.5(COL5A2):c.*1331C>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 333109	NM_000393.5(COL5A2):c.*1165G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 333110	NM_000393.5(COL5A2):c.*1076G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 1678465	NM_000393.5(COL5A2):c.*939G>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 333111	NM_000393.5(COL5A2):c.*904A>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 333112	NM_000393.5(COL5A2):c.*848T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 333113	NM_000393.5(COL5A2):c.*798A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333114	NM_000393.5(COL5A2):c.*716A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333115	NM_000393.5(COL5A2):c.*694TA[1]	COL5A2	Microsatellite (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333116	NM_000393.5(COL5A2):c.*639G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +1 more	GBenign/Likely benign
Select item 333117	NM_000393.5(COL5A2):c.*590dup	COL5A2	Duplication (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +1 more	GUncertain significance
Select item 333118	NM_000393.5(COL5A2):c.589_590del	COL5A2	Deletion (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 333119	NM_000393.5(COL5A2):c.*561T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 899248	NM_000393.5(COL5A2):c.*525A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 333120	NM_000393.5(COL5A2):c.*515C>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 899249	NM_000393.5(COL5A2):c.*476T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 333121	NM_000393.5(COL5A2):c.*446G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 899250	NM_000393.5(COL5A2):c.*436A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 333122	NM_000393.5(COL5A2):c.*423C>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333123	NM_000393.5(COL5A2):c.*401A>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333124	NM_000393.5(COL5A2):c.*392T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333125	NM_000393.5(COL5A2):c.*391A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333126	NM_000393.5(COL5A2):c.*298G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333127	NM_000393.5(COL5A2):c.*211T>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 333128	NM_000393.5(COL5A2):c.*126A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 333129	NM_000393.5(COL5A2):c.*46C>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 459646	Single allele	COL5A2	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 255994	NM_000393.5(COL5A2):c.*19G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign
Select item 1662494	NM_000393.5(COL5A2):c.4497G>A (p.Val1499=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213087	NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)	COL5A2 (V1499L)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 1740974	NM_000393.5(COL5A2):c.4491T>C (p.Cys1497=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1740926	NM_000393.5(COL5A2):c.4485A>T (p.Pro1495=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2838703	NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)	COL5A2 (I1493T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2846271	NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)	COL5A2 (E1492D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 408282	NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)	COL5A2 (V1491I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 237778	NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1212833	NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)	COL5A2 (G1490S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300985	NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 1740786	NM_000393.5(COL5A2):c.4464A>G (p.Glu1488=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3366511	NM_000393.5(COL5A2):c.4456G>C (p.Asp1486His)	COL5A2 (D1486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1139272	NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1053096	NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro)	COL5A2 (T1485P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213132	NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)	COL5A2 (G1484D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 213086	NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)	COL5A2 (G1484S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1548103	NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 136959	NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 377738	NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 213131	NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu)	COL5A2 (V1480L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134192	NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2626093	NM_000393.5(COL5A2):c.4428T>C (p.Asp1476=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1346998	NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly)	COL5A2 (D1476G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1740504	NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)	COL5A2 (I1475T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 264167	NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val)	COL5A2 (I1475V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1804519	NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)	COL5A2 (I1474M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1402421	NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val)	COL5A2 (I1474V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1809745	NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)	COL5A2 (P1473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652046	NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 946904	NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)	COL5A2 (R1471H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1036239	NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)	COL5A2 (R1471C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 264358	NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)	COL5A2 (A1470V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1398634	NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr)	COL5A2 (A1470T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 519691	NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)	COL5A2 (N1468D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2910051	NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)	COL5A2 (Q1467R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2862588	NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 136958	NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity
Select item 136957	NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1037135	NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly)	COL5A2 (E1463G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 513408	NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 1935315	NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)	COL5A2 (T1460I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 493306	NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1059133	NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)	COL5A2 (V1457M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 669366	NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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