"GeneDx"[submitter] AND "COL5A2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 237777	NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)	COL5A2 (N1454K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213130	NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)	COL5A2 (R1453Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 577649	NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)	COL5A2 (R1453W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 675290	NM_000393.5(COL5A2):c.4354-137T>C	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217083	NM_000393.5(COL5A2):c.4354-175G>C	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194005	NM_000393.5(COL5A2):c.4354-300A>T	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200689	NM_000393.5(COL5A2):c.4353+304C>T	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672310	NM_000393.5(COL5A2):c.4353+101A>G	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670990	NM_000393.5(COL5A2):c.4353+70A>G	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257761	NM_000393.5(COL5A2):c.4353+69C>T	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390344	NM_000393.5(COL5A2):c.4353+8C>G	COL5A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 423963	NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met)	COL5A2 (I1444M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213129	NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)	COL5A2 (R1442Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 450419	NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)	COL5A2 (R1440S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 264388	NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)	COL5A2 (I1439T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1205422	NM_000393.5(COL5A2):c.4303G>A (p.Ala1435Thr)	COL5A2 (A1435T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037755	NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)	COL5A2 (D1432G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213128	NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)	COL5A2 (D1432V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 2576814	NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)	COL5A2 (D1414G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213127	NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)	COL5A2 (D1414N)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 1311291	NM_000393.5(COL5A2):c.4235T>C (p.Met1412Thr)	COL5A2 (M1412T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213085	NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 213084	NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1998219	NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)	COL5A2 (R1391L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 449639	NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)	COL5A2 (R1391H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1194762	NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1211021	NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala)	COL5A2 (T1382A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 392327	NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser)	COL5A2 (P1380S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 213126	NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg)	COL5A2 (Q1378R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512950	NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 136956	NM_000393.5(COL5A2):c.4114-11T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 513670	NM_000393.5(COL5A2):c.4114-18_4114-17del	COL5A2	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 391514	NM_000393.5(COL5A2):c.4114-17A>G	COL5A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 389828	NM_000393.5(COL5A2):c.4114-20A>G	COL5A2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 672287	NM_000393.5(COL5A2):c.4114-212G>A	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681217	NM_000393.5(COL5A2):c.4113+282G>A	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670989	NM_000393.5(COL5A2):c.4113+223G>T	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673586	NM_000393.5(COL5A2):c.4113+90del	COL5A2	Deletion (intron variant)	not provided	GBenign
Select item 256004	NM_000393.5(COL5A2):c.4113+47C>T	COL5A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 514666	NM_000393.5(COL5A2):c.4113+16del	COL5A2	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 420270	NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile)	COL5A2 (L1364I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310077	NM_000393.5(COL5A2):c.4087G>A (p.Gly1363Ser)	COL5A2 (G1363S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 573793	NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)	COL5A2 (Y1362C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1303311	NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu)	COL5A2 (P1359L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 213160	NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu)	COL5A2 (D1356E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213125	NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)	COL5A2 (D1356G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 213124	NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys)	COL5A2 (N1340K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213123	NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp)	COL5A2 (G1309D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 673595	NM_000393.5(COL5A2):c.3926-25G>C	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214715	NM_000393.5(COL5A2):c.3926-139T>C	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186947	NM_000393.5(COL5A2):c.3926-149C>T	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290847	NM_000393.5(COL5A2):c.3926-216T>G	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681289	NM_000393.5(COL5A2):c.3925+279A>G	COL5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673988	NM_000393.5(COL5A2):c.3925+37G>T	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677642	NM_000393.5(COL5A2):c.3925+34G>A	COL5A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 408280	NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)	COL5A2 (Q1307E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 237776	NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)	COL5A2 (A1305T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 3364883	NM_000393.5(COL5A2):c.3873C>G (p.His1291Gln)	COL5A2 (H1291Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040352	NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn)	COL5A2 (D1286N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 508973	NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 519679	NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)	COL5A2 (R1283H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136955	NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 636584	NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)	COL5A2 (I1279V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2412877	NM_000393.5(COL5A2):c.3823C>G (p.Leu1275Val)	COL5A2 (L1275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180305	NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)	COL5A2 (D1265G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2429507	NM_000393.5(COL5A2):c.3755C>T (p.Thr1252Ile)	COL5A2 (T1252I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306120	NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile)	COL5A2 (M1244I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1305634	NM_000393.5(COL5A2):c.3731T>A (p.Met1244Lys)	COL5A2 (M1244K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213083	NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)	COL5A2 (S1243N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 136954	NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 213159	NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)	COL5A2 (H1239R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1305577	NM_000393.5(COL5A2):c.3713G>A (p.Gly1238Glu)	COL5A2 (G1238E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392146	NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1806712	NM_000393.5(COL5A2):c.3691G>A (p.Ala1231Thr)	COL5A2 (A1231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136953	NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)	COL5A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136952	NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)	COL5A2 (T1230R)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign

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