ClinVar for Gene (Select 1289) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356601	NM_000093.5(COL5A1):c.5168T>C (p.Val1723Ala)	COL5A1, LOC101448202 (V1723A)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3352271	NM_000093.5(COL5A1):c.3205-7T>G	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3350273	NM_000093.5(COL5A1):c.*9G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	COL5A1-related disorder	GLikely benign
Select item 3347886	NM_000093.5(COL5A1):c.4939C>G (p.Pro1647Ala)	COL5A1, LOC101448202 (P1647A)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3346638	NM_000093.5(COL5A1):c.4711G>C (p.Glu1571Gln)	COL5A1, LOC101448202 (E1571Q)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3346477	NM_000093.5(COL5A1):c.3723_3724insTTGAG (p.Thr1242fs)	COL5A1 (T1242fs)	Insertion (frameshift variant)	COL5A1-related disorder	GLikely pathogenic
Select item 3345030	NM_000093.5(COL5A1):c.827A>G (p.Glu276Gly)	COL5A1 (E276G)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3344333	NM_000093.5(COL5A1):c.2101A>G (p.Met701Val)	COL5A1 (M701V)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3344195	NM_000093.5(COL5A1):c.4339-3C>T	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3342599	NM_000093.5(COL5A1):c.250A>C (p.Ser84Arg)	COL5A1 (S84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342415	NM_000093.5(COL5A1):c.3328C>T (p.Gln1110Ter)	COL5A1 (Q1110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340331	NM_000093.5(COL5A1):c.757C>T (p.Gln253Ter)	COL5A1 (Q253*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339672	NM_000093.5(COL5A1):c.*6G>A	COL5A1, LOC101448202	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3338865	NM_000093.5(COL5A1):c.4148del (p.Pro1383fs)	COL5A1 (P1383fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3338864	NM_000093.5(COL5A1):c.379C>T (p.Gln127Ter)	COL5A1 (Q127*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338117	NM_000093.5(COL5A1):c.2089-7_2089dup	COL5A1	Duplication (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3336861	NM_000093.5(COL5A1):c.3116G>A (p.Gly1039Asp)	COL5A1 (G1039D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268759	NM_000093.5(COL5A1):c.2798del (p.Lys933fs)	COL5A1 (K933fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3268757	NM_000093.5(COL5A1):c.600C>T (p.Asp200=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268756	NM_000093.5(COL5A1):c.3131C>T (p.Ala1044Val)	COL5A1 (A1044V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268755	NM_000093.5(COL5A1):c.3514G>C (p.Asp1172His)	COL5A1 (D1172H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268754	NM_000093.5(COL5A1):c.1564C>T (p.Leu522=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268753	NM_000093.5(COL5A1):c.3481A>T (p.Ile1161Phe)	COL5A1 (I1161F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268751	NM_000093.5(COL5A1):c.2529A>G (p.Glu843=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268750	NM_000093.5(COL5A1):c.1242G>A (p.Glu414=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268749	NM_000093.5(COL5A1):c.2829C>T (p.Gly943=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268748	NM_000093.5(COL5A1):c.3687G>A (p.Leu1229=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268747	NM_000093.5(COL5A1):c.1719+3A>G	COL5A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268746	NM_000093.5(COL5A1):c.738C>A (p.Thr246=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3268743	NM_000093.5(COL5A1):c.5083T>C (p.Trp1695Arg)	COL5A1, LOC101448202 (W1695R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3268742	NM_000093.5(COL5A1):c.4656C>T (p.Gly1552=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3256562	NM_000093.5(COL5A1):c.2899-1G>A	COL5A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 3253167	NM_000093.5(COL5A1):c.2662C>T (p.Pro888Ser)	COL5A1 (P888S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252368	NM_000093.5(COL5A1):c.1417C>G (p.Pro473Ala)	COL5A1 (P473A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252015	NM_000093.5(COL5A1):c.4434dup (p.Lys1479fs)	COL5A1 (K1479fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 3251286	NM_000093.5(COL5A1):c.4830_4831dup (p.Ile1611fs)	COL5A1, LOC101448202 (I1611fs)	Microsatellite (frameshift variant)	Ehlers-Danlos syndrome	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
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 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3236351	NM_000093.5(COL5A1):c.1020C>A (p.Tyr340Ter)	COL5A1 (Y340*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 3236018	NM_000093.5(COL5A1):c.1773G>A (p.Gln591=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3230323	NM_000093.5(COL5A1):c.849C>A (p.Pro283=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230322	NM_000093.5(COL5A1):c.660C>T (p.Asp220=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230321	NM_000093.5(COL5A1):c.645G>A (p.Glu215=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230320	NM_000093.5(COL5A1):c.557A>G (p.Lys186Arg)	COL5A1 (K186R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3230317	NM_000093.5(COL5A1):c.45G>C (p.Pro15=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3230315	NM_000093.5(COL5A1):c.432G>C (p.Thr144=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230314	NM_000093.5(COL5A1):c.4188C>A (p.Gly1396=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230313	NM_000093.5(COL5A1):c.4158G>C (p.Ser1386=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230311	NM_000093.5(COL5A1):c.3618G>A (p.Gln1206=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230310	NM_000093.5(COL5A1):c.3024G>T (p.Thr1008=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230309	NM_000093.5(COL5A1):c.2565C>G (p.Pro855=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230308	NM_000093.5(COL5A1):c.2344C>T (p.Pro782Ser)	COL5A1 (P782S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230307	NM_000093.5(COL5A1):c.228A>G (p.Arg76=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230306	NM_000093.5(COL5A1):c.1800T>C (p.Pro600=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230305	NM_000093.5(COL5A1):c.1632C>T (p.Ser544=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230304	NM_000093.5(COL5A1):c.1530T>C (p.Asp510=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230303	NM_000093.5(COL5A1):c.1425C>A (p.Gly475=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3230302	NM_000093.5(COL5A1):c.1350C>A (p.Gly450=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075816	NM_000093.5(COL5A1):c.3688C>T (p.Gln1230Ter)	COL5A1 (Q1230*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GLikely pathogenic
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 3068687	NM_000093.5(COL5A1):c.3325C>T (p.Pro1109Ser)	COL5A1 (P1109S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 3068643	NM_000093.5(COL5A1):c.2785A>T (p.Lys929Ter)	COL5A1 (K929*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type	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 3067711	NM_000093.5(COL5A1):c.4002C>T (p.Pro1334=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3066249	NM_000093.5(COL5A1):c.1494G>A (p.Arg498=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 3066240	NM_000093.5(COL5A1):c.3475-6C>G	COL5A1	Single nucleotide variant (intron 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 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061226	NM_000093.5(COL5A1):c.2203C>T (p.Gln735Ter)	COL5A1 (Q735*)	Single nucleotide variant (nonsense)	COL5A1-related disorder	GLikely pathogenic
Select item 3061045	NM_000093.5(COL5A1):c.1041C>A (p.Tyr347Ter)	COL5A1 (Y347*)	Single nucleotide variant (nonsense)	COL5A1-related disorder	GPathogenic
Select item 3058540	NM_000093.5(COL5A1):c.83T>G (p.Leu28Arg)	COL5A1 (L28R)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3054827	NM_000093.5(COL5A1):c.3015G>A (p.Thr1005=)	COL5A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3054682	NM_000093.5(COL5A1):c.3154C>T (p.Pro1052Ser)	COL5A1 (P1052S)	Single nucleotide variant (missense variant)	COL5A1-related disorder	GUncertain significance
Select item 3054217	NM_000093.5(COL5A1):c.2187+10C>G	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	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 3052036	NM_000093.5(COL5A1):c.2845-10C>T	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3047113	NM_000093.5(COL5A1):c.2232+6T>C	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
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 3030677	NM_000093.5(COL5A1):c.2647-22T>C	COL5A1	Single nucleotide variant (intron variant)	COL5A1-related disorder	GLikely benign
Select item 3026631	NM_000093.5(COL5A1):c.2331+3G>A	COL5A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3023201	NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)	COL5A1 (E1118V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance

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