ClinVar for MedGen (Select 854083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365795	NM_000093.5(COL5A1):c.*2501T>C	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GBenign
Select item 365794	NM_000093.5(COL5A1):c.*2485G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365793	NM_000093.5(COL5A1):c.*2429T>C	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GLikely benign
Select item 365792	NM_000093.5(COL5A1):c.*2410C>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365791	NM_000093.5(COL5A1):c.*2395G>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GBenign
Select item 365790	NM_000093.5(COL5A1):c.*2294A>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365789	NM_000093.5(COL5A1):c.*2252T>C	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365788	NM_000093.5(COL5A1):c.*2175G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365787	NM_000093.5(COL5A1):c.*2090C>T	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365786	NM_000093.5(COL5A1):c.*1922G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365785	NM_000093.5(COL5A1):c.*1887G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365784	NM_000093.5(COL5A1):c.*1848C>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365783	NM_000093.5(COL5A1):c.*1849ACAA[3]	COL5A1, LOC101448202	Microsatellite (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365782	NM_000093.5(COL5A1):c.*1845A>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365781	NM_000093.5(COL5A1):c.*1807G>C	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365780	NM_000093.5(COL5A1):c.*1806C>T	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365779	NM_000093.5(COL5A1):c.*1788G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365778	NM_000093.5(COL5A1):c.*1787G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365777	NM_000093.5(COL5A1):c.*1734G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365776	NM_000093.5(COL5A1):c.*1653dup	COL5A1, LOC101448202	Duplication (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365775	NM_000093.5(COL5A1):c.*1642G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365774	NM_000093.5(COL5A1):c.*1637C>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365773	NM_000093.5(COL5A1):c.*1562A>G	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365772	NM_000093.5(COL5A1):c.*1443G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365771	NM_000093.5(COL5A1):c.*1343A>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365770	NM_000093.5(COL5A1):c.*1260G>A	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365769	NM_000093.5(COL5A1):c.*1125A>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +1 more	GBenign
Select item 365768	NM_000093.5(COL5A1):c.*1086ATCT[1]	COL5A1, LOC101448202	Microsatellite (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GBenign
Select item 365767	NM_000093.5(COL5A1):c.1047_1049dup	COL5A1, LOC101448202	Duplication (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365766	NM_000093.5(COL5A1):c.*948C>G	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365765	NM_000093.5(COL5A1):c.*894T>C	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GBenign
Select item 365764	NM_000093.5(COL5A1):c.870_873dup	COL5A1, LOC101448202	Duplication (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GBenign
Select item 365763	NM_000093.5(COL5A1):c.867_868insATAGG	COL5A1, LOC101448202	Insertion (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365762	NM_000093.5(COL5A1):c.866_867insTAG	LOC101448202, COL5A1	Insertion (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365761	NM_000093.5(COL5A1):c.*865dup	COL5A1, LOC101448202	Duplication (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365760	NM_000093.5(COL5A1):c.*733C>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign
Select item 365759	NM_000093.5(COL5A1):c.*724C>T	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365758	NM_000093.5(COL5A1):c.*727dup	COL5A1, LOC101448202	Duplication (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365757	NM_000093.5(COL5A1):c.*700G>C	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365756	NM_000093.5(COL5A1):c.*660G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365755	NM_000093.5(COL5A1):c.*629A>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365754	NM_000093.5(COL5A1):c.*608G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365753	NM_000093.5(COL5A1):c.*596A>G	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365752	NM_000093.5(COL5A1):c.*589G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365751	NM_000093.5(COL5A1):c.*424A>G	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365750	NM_000093.5(COL5A1):c.*311C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GBenign/Likely benign
Select item 365749	NM_000093.5(COL5A1):c.*302C>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365748	NM_000093.5(COL5A1):c.*283G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GBenign/Likely benign
Select item 365747	NM_000093.5(COL5A1):c.*269C>T	LOC101448202, COL5A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 365746	NM_000093.5(COL5A1):c.*267C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 365745	NM_000093.5(COL5A1):c.*235C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365744	NM_000093.5(COL5A1):c.*190G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GLikely benign
Select item 365743	NM_000093.5(COL5A1):c.*173C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365742	NM_000093.5(COL5A1):c.*145G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +1 more	GBenign/Likely benign
Select item 365741	NM_000093.5(COL5A1):c.*83C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 365740	NM_000093.5(COL5A1):c.*68C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365739	NM_000093.5(COL5A1):c.*58C>T	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type +2 more	GBenign/Likely benign
Select item 365738	NM_000093.5(COL5A1):c.*55G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365737	NM_000093.5(COL5A1):c.*42C>G	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +1 more	GConflicting classifications of pathogenicity
Select item 365736	NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +3 more	GConflicting classifications of pathogenicity
Select item 365735	NM_000093.5(COL5A1):c.5371-12C>T	COL5A1, LOC101448202	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365734	NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)	COL5A1, LOC101448202 (R1765C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 365733	NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)	COL5A1, LOC101448202 (A1755T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +3 more	GConflicting classifications of pathogenicity
Select item 365732	NM_000093.5(COL5A1):c.4955-13C>T	LOC101448202, COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome type 7A +1 more	GConflicting classifications of pathogenicity
Select item 365731	NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)	COL5A1, LOC101448202 (E1599Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 365730	NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=)	LOC101448202, COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 365729	NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +3 more	GConflicting classifications of pathogenicity
Select item 365728	NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)	COL5A1 (P1457L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +4 more	GConflicting classifications of pathogenicity
Select item 365727	NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 365726	NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)	COL5A1 (A1398T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +2 more	GConflicting classifications of pathogenicity
Select item 365725	NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)	COL5A1 (E1313D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GConflicting classifications of pathogenicity
Select item 365724	NM_000093.5(COL5A1):c.3906+15G>C	COL5A1	Single nucleotide variant (intron variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign
Select item 365723	NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 365722	NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +2 more	GConflicting classifications of pathogenicity
Select item 365721	NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)	COL5A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 365720	NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365719	NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +5 more	GConflicting classifications of pathogenicity
Select item 365718	NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 365717	NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)	COL5A1 (N852S)	Single nucleotide variant (missense variant)	COL5A1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 365716	NM_000093.5(COL5A1):c.2331+15C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 365715	NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)	COL5A1 (A728T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +5 more	GConflicting classifications of pathogenicity
Select item 365714	NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser)	COL5A1 (R663S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365713	NM_000093.5(COL5A1):c.1830T>C (p.Gly610=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365712	NM_000093.5(COL5A1):c.1734C>T (p.Ser578=)	COL5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365711	NM_000093.5(COL5A1):c.1332+4dup	COL5A1	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 365710	NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)	COL5A1 (T424A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365709	NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)	COL5A1 (E284K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +6 more	GConflicting classifications of pathogenicity
Select item 365708	NM_000093.5(COL5A1):c.787-9C>T	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 365707	NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)	COL5A1 (A247T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 365706	NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys)	COL5A1 (T144K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +1 more	GConflicting classifications of pathogenicity
Select item 365705	NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly)	COL5A1 (E122G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 365704	NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe)	COL5A1 (L13F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome type 7A +4 more	GConflicting classifications of pathogenicity
Select item 365703	NM_000093.5(COL5A1):c.-110A>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 365702	NM_000093.5(COL5A1):c.-139G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365701	NM_000093.5(COL5A1):c.-247T>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 365700	NM_000093.5(COL5A1):c.-276AGG[7]	COL5A1	Microsatellite (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365699	NM_000093.5(COL5A1):c.-287G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365698	NM_000093.5(COL5A1):c.-357G>T	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome type 7A	GUncertain significance
Select item 365697	NM_000093.5(COL5A1):c.-364G>C	COL5A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 365696	NM_000093.5(COL5A1):c.-382C>G	COL5A1	Single nucleotide variant (5 prime UTR variant)	Fibromuscular dysplasia, multifocal +4 more	GBenign/Likely benign

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