Related gene-specific medical variations for Gene (Select 1289) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 780

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245114	NC_000009.11:g.(?_137617195)_(137619147_?)del	COL5A1	Deletion	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 3245112	NC_000009.11:g.(?_137721802)_(137734149_?)dup	COL5A1	Duplication	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3245111	NC_000009.11:g.(?_137591735)_(137646192_?)dup	COL5A1	Duplication	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3245110	NC_000009.11:g.(?_137582738)_(137674586_?)dup	COL5A1	Duplication	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3245109	NC_000009.11:g.(?_137713923)_(137717770_?)del	COL5A1	Deletion	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3245108	NC_000009.11:g.(?_137534034)_(137534162_?)del	COL5A1	Deletion	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3230319	NM_000093.5(COL5A1):c.5171G>C (p.Gly1724Ala)	COL5A1, LOC101448202 (G1724A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230318	NM_000093.5(COL5A1):c.4713G>C (p.Glu1571Asp)	COL5A1, LOC101448202 (E1571D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230316	NM_000093.5(COL5A1):c.4523C>G (p.Pro1508Arg)	COL5A1, LOC101448202 (P1508R)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3068722	NM_000093.5(COL5A1):c.74T>C (p.Leu25Pro)	COL5A1 (L25P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3068024	NM_000093.5(COL5A1):c.3883C>T (p.Leu1295Phe)	COL5A1 (L1295F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3063907	NM_000093.5(COL5A1):c.5371-14T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3052475	NM_000093.5(COL5A1):c.5371-5C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	COL5A1-related disorder	GUncertain significance
Select item 3043155	NM_000093.5(COL5A1):c.5136+77G>T	COL5A1, LOC101448202 (R1694L)	Single nucleotide variant (missense variant +1 more)	COL5A1-related disorder	GLikely benign
Select item 3037923	NM_000093.5(COL5A1):c.5136+120G>A	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	COL5A1-related disorder	GLikely benign
Select item 3025175	NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022050	NM_000093.5(COL5A1):c.4554+20T>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 3021674	NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)	COL5A1, LOC101448202 (D1641N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3016454	NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2998755	NM_000093.5(COL5A1):c.5068-14C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2993133	NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)	COL5A1, LOC101448202 (E1698G)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2984474	NM_000093.5(COL5A1):c.4955-20T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2983370	NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)	COL5A1, LOC101448202 (I1611F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2980885	NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2967940	NM_000093.5(COL5A1):c.5370+16C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2966843	NM_000093.5(COL5A1):c.4609-12CT[3]	COL5A1, LOC101448202	Microsatellite (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2963497	NM_000093.5(COL5A1):c.5137-12_5137-11del	COL5A1, LOC101448202	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2961000	NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2959940	NM_000093.5(COL5A1):c.5136+15G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2957813	NM_000093.5(COL5A1):c.4938C>T (p.His1646=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2915008	NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)	COL5A1, LOC101448202 (E1688K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2913158	NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2912486	NM_000093.5(COL5A1):c.4644+20G>C	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2911734	NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)	COL5A1, LOC101448202 (H1484Y)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2905199	NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)	COL5A1, LOC101448202 (S1614A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2903128	NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)	COL5A1, LOC101448202 (M1774V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2902386	NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)	COL5A1, LOC101448202 (M1625T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2901611	NM_000093.5(COL5A1):c.5371-6C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2900402	NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly)	COL5A1, LOC101448202 (E1773G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2883793	NM_000093.5(COL5A1):c.4699-14G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2882949	NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2868982	NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)	COL5A1, LOC101448202 (E1517G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2866889	NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)	COL5A1, LOC101448202 (S1548W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2863976	NM_000093.5(COL5A1):c.4645-17C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2862544	NM_000093.5(COL5A1):c.4554+20T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2861639	NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2861262	NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)	COL5A1, LOC101448202 (P1565fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2861148	NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2857822	NM_000093.5(COL5A1):c.4698+6dup	COL5A1, LOC101448202	Duplication (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2857200	NM_000093.5(COL5A1):c.5068-14C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2852173	NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2851957	NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)	COL5A1, LOC101448202 (W1655R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2850887	NM_000093.5(COL5A1):c.5371-15C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2846917	NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala)	COL5A1, LOC101448202 (G1832A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2839817	NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2836975	NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)	COL5A1, LOC101448202 (I1578M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2834252	NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2833306	NM_000093.5(COL5A1):c.4955-1G>C	COL5A1, LOC101448202	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 2831275	NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro)	COL5A1, LOC101448202 (R1783P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2831253	NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)	COL5A1, LOC101448202 (N1672S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2830771	NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2823627	NM_000093.5(COL5A1):c.4698+9C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2823253	NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)	COL5A1, LOC101448202 (R1585G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2819787	NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)	COL5A1, LOC101448202 (V1810L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2814128	NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)	COL5A1, LOC101448202 (G1534fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2804874	NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2802713	NM_000093.5(COL5A1):c.4447-18G>A	LOC101448202, COL5A1	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2795098	NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)	COL5A1, LOC101448202 (P1493L)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2794230	NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)	COL5A1, LOC101448202 (D1771Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2793571	NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)	COL5A1, LOC101448202 (A1823E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2787203	NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2771460	NM_000093.5(COL5A1):c.4645-12C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2766134	NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)	COL5A1, LOC101448202 (E1808fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2761701	NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2761561	NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)	COL5A1, LOC101448202 (M1774fs)	Microsatellite (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2756244	NM_000093.5(COL5A1):c.5067+5G>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2755211	NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)	COL5A1, LOC101448202 (Y1747*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2753539	NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2752966	NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2743347	NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)	COL5A1, LOC101448202 (W1695*)	Single nucleotide variant (nonsense +1 more)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2742488	NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe)	COL5A1, LOC101448202 (S1702F)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2740759	NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2738847	NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)	LOC101448202, COL5A1 (P1508L)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GBenign
Select item 2737913	NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 2735373	NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)	COL5A1, LOC101448202 (C1639Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 2730750	NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)	COL5A1, LOC101448202 (P1696S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2723546	NM_000093.5(COL5A1):c.4698+6T>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2723391	NM_000093.5(COL5A1):c.4554+16C>A	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2723157	NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2721938	NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)	COL5A1, LOC101448202 (E1719K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2721783	NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg)	COL5A1, LOC101448202 (G1832R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2721764	NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)	COL5A1, LOC101448202 (G1838D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2720847	NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2720357	NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)	COL5A1, LOC101448202 (Y1654*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 2720136	NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2718219	NM_000093.5(COL5A1):c.4608+19C>G	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2718192	NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)	COL5A1, LOC101448202 (S1769F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2711526	NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2699415	NM_000093.5(COL5A1):c.4447-17T>C	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2683664	NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)	COL5A1, LOC101448202 (G1607fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

<< First< Prev

Page of 8